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Journal articles on the topic 'Genotypes and Pakistani population'

Author: Grafiati

Published: 3 June 2025

Last updated: 1 August 2025

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1

Waheed, Yasir, Talha Bin-Rahat, Sher Zaman Safi, and Ishtiaq Qadri. "Epidemiological patterns and risk factors associated with hepatitis B virus in Pakistani population." Asian Biomedicine 4, no. 4 (2010): 547–54. http://dx.doi.org/10.2478/abm-2010-0069.

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Abstract Hepatitis B virus prevalence is increasing in Pakistani population. National level estimates regarding the prevalence are missing. People are unaware of the risk factors involved in HBV transmission. The objective of the study was to review the prevalence, genotypes, and risk factors associated with HBV transmission in Pakistani Population. Literature search was done by using keyword HBV prevalence, genotypes and risk factors from Pakistani population at Pubmed, PakMediNet and Google scholar. Six different studies showed that the percentage prevalence of HBV in general population was

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Gogorcena, Y., and D. E. Parfitt. "RAPD MARKER DIVERSITY AMONG PAKISTANI APRICOTS." HortScience 27, no. 6 (1992): 573e—573. http://dx.doi.org/10.21273/hortsci.27.6.573e.

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A number of 10 base primers were screened to identify RAPD polymorphisms among a population of semi wild apricot genotypes that had been collected by Maxine Thompson in 1988. 30 families collected from trees at 6 locations were analyzed. DNA from leaf tissue of 180 plants, ca. 6 genotypes per family, were isolated and tested against 20 primers. Seven primers were identified that produced consistent results with relatively few (thus, scoreable) and consistent bands. DNA was isolated using the cTAB method and the effects of additional CsCl centrifugation isolation were tested. No differences wer

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Ahmad, Mushtaq, and Aftab Ali Shah. "Predictive role of single nucleotide polymorphism (rs11614913) in the development of breast cancer in Pakistani population." Personalized Medicine 17, no. 3 (2020): 213–27. http://dx.doi.org/10.2217/pme-2019-0086.

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Aim: miRNAs play an important role in breast cancer (BC). Variations in miRNAs influence their maturation, expression and consequently regulation of their target genes. Materials & methods: In this study, single nucleotide polymorphism rs11614913 was genotyped in BC patients (n = 300) and 230 controls by employing tetra primer amplification refractory mutation system PCR and Sanger sequencing (Macrogen Korea). Results: A significant difference was observed in the genotypes through co-dominant ( χ2.#x00A0;= 42.03; p < 0.0001), additive (odds ratio [OR] = 0.6441 [0.4887–0.8490, 95% confid

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Mehmood, Asim, Peter M. Dracatos, Linta Maqsood, et al. "Genetic Variability and Population Structure of Pakistani Potato Genotypes Using Retrotransposon-Based Markers." Agriculture 13, no. 1 (2023): 185. http://dx.doi.org/10.3390/agriculture13010185.

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Molecular germplasm characterization is essential for gathering information on favorable attributes and varietal improvement. The current study evaluated the genetic divergence and population structure of 80 potato genotypes collected from Punjab, Pakistan, using polymorphic retrotransposon-DNA-based markers (iPBS). A total of 11 iPBS primers generated 787 alleles with a mean value of 8.9 alleles per primer, of which ~95% were polymorphic across the 80 genotypes. Different variation attributes, such as mean expected heterozygosity (H = 0.21), mean unbiased expected heterozygosity (µHe = 0.22),

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Salahud Din, Sadia. "Frequency of Epstein–Barr Virus Genotypes in Pakistani Trangender SexWorkers." Open Forum Infectious Diseases 4, suppl_1 (2017): S313. http://dx.doi.org/10.1093/ofid/ofx163.732.

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Abstract Background Transgender community large association with sex work has put them at a greater risk of contracting sexually transmitted infections (STIs).The aim of this study was to investigate the prevalence of Epstein–Barr Virus (EBV) genotypes in transgender sex workers (TSWs) of twin-cities of Pakistan. The high prevalence of EBV-2 genotype in sex workers has been previously reported. EBV genotypes were investigated in transgender sex workers to find out EBV-2 occurrence in Pakistani population. Methods A total of 86 transgender (Hijras) sex workers were randomly included in this stu

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dos Santos, Carlucio Rocha, Caleb Guedes Miranda dos Santos, Dinair Couto-Lima, et al. "Evaluation of Yellow Fever Virus Infection in Aedes aegypti Mosquitoes from Pakistan with Distinct Knockdown Resistance Genotypes." Insects 16, no. 1 (2024): 33. https://doi.org/10.3390/insects16010033.

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Background: Yellow fever (YF) is an acute hemorrhagic disease endemic to Africa and Latin America; however, no cases have been reported in Asian regions with high Aedes aegypti infestation. Factors such as environmental conditions and genetic variations in the yellow fever virus (YFV) strains and mosquito populations may explain this absence. Mosquito populations have undergone strong selective pressure owing to the excessive use of insecticides. This pressure has led to the spread of alterations, such as knockdown-resistant mutations (kdr), which, while conferring resistance to pyrethroids, a

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Faiz, Mariam, Amna Younus, and Abida Yasmeen. "Genetic Diversity and Distribution of Vitamin D Receptor (VDR) Genotypes in Breast Cancer Cases from Pakistan." Asian Pacific Journal of Cancer Biology 6, no. 4 (2021): 243–48. http://dx.doi.org/10.31557/apjcb.2021.6.4.243-248.

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Background: Breast carcinoma is one of the most commonly diagnosed invasive malignancies in females. In Pakistan, it is more commonly detected in women at a young age as compared to the West. Among all women, the risk of developing breast cancer is equal irrespective of their ethnic or racial basis. The aim of the study was to determine vitamin D receptor gene polymorphisms (FokI and TaqI) and allele frequency distribution in Pakistani women with newly diagnosed breast cancer. This study also aimed to find and compare genetic diversity of VDR polymorphisms among breast cancer cases in differen

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Cheema, Asma Naseer, Attya Bhatti, Xingbin Wang, et al. "APOEGene Polymorphism and Risk of Coronary Stenosis in Pakistani Population." BioMed Research International 2015 (2015): 1–5. http://dx.doi.org/10.1155/2015/587465.

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Genetic variation in lipid regulatory genes, particularlyAPOE, significantly influences the risk of coronary artery disease (CAD). This study aimed to assess the association betweenAPOEpolymorphism and angiographically assessed coronary stenosis in Pakistani population. A total of 695 subjects (22.3% female, mean age =54±11years) presenting with chest pain were enrolled after obtaining written informed consent. CAD stenosis/extent was assessed by angiography. Patients were classified as having severe stenosis (≥70%), moderate stenosis (30–69%), and mild stenosis (<30%). CAD patients with ≥7

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Rizvi, Zainab, Nakhshab Choudhry, Aamir Jamal Gondal, and Nighat Yasmin. "Association of Surfactant Protein D Single Nucleotide Polymorphisms rs721917, rs2243639, rs3088308 with Recurrent Aphthous Stomatitis in Pakistani Population." Genes 14, no. 5 (2023): 1119. http://dx.doi.org/10.3390/genes14051119.

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Recurrent aphthous stomatitis (RAS) is a benign ulcerative condition, defined by the recurrent formation of non-contagious mucosal ulcers. Surfactant protein D (SP-D) is secreted frequently at surfaces exposed directly to body fluids. This study aims to investigate the association of SP-D single nucleotide polymorphisms (SNPs) with the onset of RAS. Blood samples from 212 subjects (106 cases/controls each) were collected during 2019 and genotyped for SP-D SNPs (rs721917, rs2243639, rs3088308) by polymerase chain reaction and restriction fragment length polymorphism followed by 12% polyacrylami

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Nawaz, Syed Kashif, Asima Rani, Memoona Yousaf, Aasma Noreen, and Muhammad Arshad. "Genetic etiology of coronary artery disease considering NOS 3 gene variant rs1799983." Vascular 23, no. 3 (2014): 270–76. http://dx.doi.org/10.1177/1708538114544783.

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Reduced production of nitric oxide due to rs1799983 single nucleotide polymorphism in nitric oxide synthase 3 gene (NOS3) may enhance the risk of coronary artery disease. The association of rs1799983 polymorphism with coronary artery disease was investigated in the local population of Pakistan. Study consisted of 376 individuals, out of which 198 were coronary artery disease patients and 178 were normal healthy individuals. Allele-specific polymerase chain reaction (PCR) based strategy was used for the detection of different genotypes of rs1799983 polymorphism. PCR amplification results were o

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Khalid, Madiha, Hashim Raza, Terri M. Driessen, et al. "Genetic Risk of Autism Spectrum Disorder in a Pakistani Population." Genes 11, no. 10 (2020): 1206. http://dx.doi.org/10.3390/genes11101206.

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Autism spectrum disorder (ASD) is a group of complex multifactorial neurodevelopmental and neuropsychiatric disorders in children characterized by impairment of communication and social interaction. Several genes with associated single nucleotide polymorphisms (SNPs) have been identified for ASD in different genetic association studies, meta-analyses, and genome-wide association studies (GWAS). However, associations between different SNPs and ASD vary from population to population. Four SNPs in genes CNTNAP2, EIF4E, ATP2B2, CACNA1C, and SNP rs4307059 (which is found between CDH9 and CDH10 gene

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Ijaz, Hina, Faheem Hadi, Sajjad Ur Rehman, et al. "Association Of ADAM33 SNP (RS528557) Gene Polymorphism With COPD In Pakistani Population." Pakistan BioMedical Journal 5, no. 1 (2022): 285–89. http://dx.doi.org/10.54393/pbmj.v5i1.289.

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Chronic obstructive pulmonary disease (COPD) is a major health Problem worldwide. It is currently the fourth leading cause of death with the highest morbidity and mortality throughout the world. ADAM33 has been implicated in the etiology of asthma, another obstructive pulmonary disease. Research shows that its genetic polymorphism may play a pivotal role in COPD pathophysiology; however, data is still inconclusive and no research has been done on it in Pakistan. A total of 102 subjects (51 cases + 51 controls) were recruited. Blood samples were drawn for deoxyribonucleic acid (DNA) isolation f

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Akram, Muhammad, Muhammad Farooq Sabar, Iqbal Bano, Muhammad Usman Ghani та Mariam Shahid. "SINGLE NUCLEOTIDE POLYMORPHISMS OF TRANSFORMING GROWTH FACTOR-Β1 GENE AS POTENTIAL ASTHMA SUSCEPTIBLE VARIANTS IN PUNJABI POPULATION OF PAKISTAN". Journal of Ayub Medical College Abbottabad 34, № 4(SUPPL 1) (2022): 944–48. http://dx.doi.org/10.55519/jamc-04-s4-10495.

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Background: Candidate gene approach based on case-control model is a valuable strategy to determined disease related genetic variants. Two single nucleotide polymorphisms rs1800469 and rs2241715 in TGF-β1gene have been reported to affect the asthmatic status in different populations. The main focus of this research was to find any relationship between these SNPs and asthma in Pakistani population. Methods Using case-control model, a total of 108 individuals including 52 asthma patients and 56 healthy controls were screened to find asthma susceptibility of variants rs1800469 and rs2241715. Thes

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Maqsood, Jaweria, Amena Rahim, Muhammad Afzal, Muhammad Imran Bajwa, Bilal Karim, and Tayba Saleh Hashmi. "ASSOCIATION OF Nrf2 GENE POLYMORPHISM WITH POLYCYSTIC OVARY SYNDROME —A CASE-CONTROL STUDY." Pakistan Journal of Physiology 18, no. 3 (2022): 15–18. http://dx.doi.org/10.69656/pjp.v18i3.1467.

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Background: Polycystic Ovary Syndrome (PCOS) is considered as one of the most common endocrine disorder in women of reproductive age. Exact cause of PCOS is still unknown. However, evidence for genetic basis has been reported. Reactive oxygen species and antioxidants have been documented as key factors involved in ovarian physiological metabolism. Nrf2 is a key transcription factor that regulates the expression of antioxidant proteins, therefore provides protection against oxidative stress. Objective of this study was to find the association of Nrf2 (rs6721961) gene polymorphism with pathogene

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Ahmed, Sagheer, Nadeem Altaf, Mahnoor Ejaz, et al. "Genetic variations in the drug metabolizing enzyme, CYP2E1, among various ethnic populations of Pakistan." PeerJ 8 (August 19, 2020): e9721. http://dx.doi.org/10.7717/peerj.9721.

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Genetic polymorphism in cytochrome P450 (CYP) monooxygenase genes is an important source of interindividual variability of drug response. CYP enzyme activities may change as a result of such polymorphisms which then, may affect drug metabolism. This would result in a change in the severity and frequency of adverse effects in addition to the non-responder phenomenon. CYP2E1, a member of CYP superfamily, affects the metabolism of several clinically important drugs such as halothane, paracetamol, etc. Genetic variation in CYP2E1 is known to cause significant inter-individual differences in drug r

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Nadeem, Shehwar, Tahir Maqbool, Javed Anver Qureshi, et al. "Apolipoprotein E Gene Variation in Pakistani Subjects with Type 2 Diabetes with and without Cardiovascular Complications." Medicina 60, no. 6 (2024): 961. http://dx.doi.org/10.3390/medicina60060961.

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Background: Apolipoprotein E (APOE) gene polymorphism has been implicated in the pathogenesis of various metabolic disorders, including type 2 diabetes mellitus (T2DM). Type 2 diabetes mellitus (T2DM) is a major public health concern worldwide, including in Pakistan. Cardiovascular problems linked with T2DM have a significant impact on individuals and society. The goal of this study is to investigate the relationship between Apolipoprotein E (ApoE) genotypes, dyslipidemia, and cardiovascular complications such as ischemic heart disease (IHD) and stroke. Methods: This study was carried out on 2

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GOHAR, M., IU REHMAN, J. AHMAD, et al. "PREVALENCE OF HEPATITIS B VIRUS AND GENOTYPES IN THE REGION OF KHYBER PAKHTUNKHWA PAKISTAN." Bulletin of Biological and Allied Sciences Research 2023, no. 1 (2023): 53. http://dx.doi.org/10.54112/bbasr.v2023i1.53.

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About 3% of Pakistani population is the carrier of hepatitis B virus, and infection is growing at a steady rate. The current study reviews the situation of HBV in the KP population. Approximately 85 studies related to the prevalence of HBV and its genotypes in this region were searched using various databases. The mean and standard deviation based on collected data indicates an HBV prevalence of 110.09%±3.71 in general population, 2.51% ± 0.01 in healthy blood donors, 1.74% ± 0.01 in health care workers, 3.40% ±0.00 in healthy children, 1.27% ± 0.00 in pregnant women, 22.40% in drug abusers. T

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Irfan, M., M. Ismail, M. Azhar Beg, A. Shabbir, A. Rashid Kayani, and G. Kaukab Raja. "Association of the MTHFR C677T (rs1801133) polymorphism with idiopathic male infertility in a local Pakistani population." Balkan Journal of Medical Genetics 19, no. 1 (2016): 51–62. http://dx.doi.org/10.1515/bjmg-2016-0007.

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AbstractThe present study determined an association between idiopathic sperm disorders in a local Pakistani infertile male population and the MTHFR C677T polymorphism. After ruling out non genetic factors, a total of 437 idiopathic infertile men including 57 azoospermic, 66 oligospermic, 44 asthenozoospermic, 29 teratozoospermic, 20 oligoasthenospermic and 221 infertile normospermic men were recruited. Furthermore, 218 normospermic fertile men, who had two children (or more) were included as controls. The polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) technique w

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Yusuf, Noaman, Waleed Iqbal, Afsheen Bashir, et al. "Association of Fat, Mass and Obesity (FTO) Gene Polymorphism with Diabetes and Prediabetes in Pakistani Population." Molecular Medicine Communications 3, no. 01 (2023): 11–20. http://dx.doi.org/10.55627/mmc.003.01.0307.

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Obesity and Type 2 Diabetes Mellitus (T2DM) have become the most prevalent public health issue around the world. The etiology of obesity and T2DM is multifactorial; with genes like Fat, Mass and Obesity-associated or FTO gene add to the complexity of the disease and diagnosis. Pakistan has recently been reported the highest prevalence of T2DM in the world. Since Pakistanis have a unique genetic disposition to T2DM due to the influence of genetic variations like rs9939609 in the FTO gene, as it is likely to be quantifiably different against the global genetic backdrop. A total of 300 participan

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Brangsch, Hanka, Muhammad Saqib, Awais ur Rehman Sial, Falk Melzer, Jörg Linde, and Mandy Carolina Elschner. "Sequencing-Based Genotyping of Pakistani Burkholderia mallei Strains: A Useful Way for Investigating Glanders Outbreaks." Pathogens 11, no. 6 (2022): 614. http://dx.doi.org/10.3390/pathogens11060614.

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Burkholderia (B.) mallei is a host-adapted equine pathogen that causes glanders, a re-emerging zoonotic disease, which is endemic in Pakistan and other developing countries and seriously impacts the global equine movement. Due to globalization, the geographical restriction of diseases vanishes and the lack of awareness of and experience with eradicated diseases in industrialized countries also promotes the re-introduction of infections in these regions. Owing to the high equine population, the Pakistani province Punjab is a potential hotspot where several glanders outbreaks have been seen over

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Ullah, Nazeef. "Cytochrome P450 2C19*2 Genetic Polymorphism in Patients with Acute Coronary Syndrome." Pakistan Heart Journal 56, Supplement_2 (2023): S14. http://dx.doi.org/10.47144/phj.v56isupplement_2.2686.

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Objectives: The study aimed to investigate the association between CP2C19*2 loss of function polymorphism and acute coronary syndrome (ACS) patients receiving Clopidogrel. It compared genotype frequencies of heterozygous GA, homozygous GG, and homozygous AA between ACS patients and healthy controls. The study assessed the statistical significance of the association in the Pakistani cohort. It contributed to understanding the role of genetic polymorphisms in response to Clopidogrel therapy in ACS patients and provided insights into the need for pharmacogenomics testing for patients with CAD, pa

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Khan, Fatima, Maria Zahid, Amanullah Lail, and Najeeb Ur Rehman. "Hepatitis B-Virus Genotype D is Prevalent in a Multi-Ethnic Population of Karachi, Pakistan." Microbiological & Immunological Communications 1, no. 01 (2022): 45–53. http://dx.doi.org/10.55627/mic.001.01.0190.

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The Hepatitis B virus (HBV) remains a major cause of chronic hepatitis and hepatocellular carcinoma (HCC) globally. HBV is broadly classified into ten genotypes (A-J). Each genotype is distinctive due to its geographical distribution, response to certain treatments, and association with disease severity. The investigation of HBV genotypes is worthwhile as it will help predict patient prognosis and ensure effective treatment. Therefore, this study aimed to determine the prevalent HBV genotypes in the multiethnic population of Karachi, Pakistan. A total of 206 patients were enrolled in the study

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Ijaz, Muhammad, Zunaira Shahzad, and Taseer Ahmad. "Cytochrome CYP2B6 Gene Polymorphism and Urinary Adverse Effects in Pakistani Breast Cancer Patients taking Cyclophosphamide." Precision Medicine Communications 2, no. 1 (2022): 09–18. http://dx.doi.org/10.55627/pmc.002.01.0052.

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The use of cyclophosphamide is associated with renal and urinary adverse effects in some patients. Whether CYP2B6 gene polymorphism has anything to do with it is not very well known in the context of the Pakistani population. In this investigation, we studied the possible association between the single nucleotide polymorphism in cytochrome P450 2B6 and urinary adverse effects in a Pakistani cohort of breast cancer patients receiving cyclophosphamide as a part of therapy. In this cohort study, gene polymorphism of the CYP2B6 gene (CYP2B6 *6) of 51 histologically verified breast cancer patients

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AHMAD, N., A. REHMAN, S. GULNAZ, et al. "APPRAISAL OF BREAD WHEAT GERMPLASM FOR QUALITY ATTRIBUTES AND THEIR RELATIONSHIP WITH GRAIN YIELD." SABRAO Journal of Breeding and Genetics 52, no. 2 (2023): 388–98. http://dx.doi.org/10.54910/sabrao2023.55.2.11.

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The increasing global population demands potential high-yielding wheat genotypes, even under changing climatic conditions. Wheat Research Institute (WRI), Faisalabad, designed a two-year study during 2018–2020, following augmented block design, to assess the association between yield and quality parameters in 245 bread wheat genotypes, including 10 checks. Separating all genotypes into four sets was according to their origin, i.e., local landraces, exotic material from CIMMYT (International Maize and Wheat Improvement Center), Pakistani accessions, and miscellaneous. A sufficient amount of gen

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Ullah, Inam, Abida Arshad, Usman Waheed, Noor e. Saba, Zahida Qasim, and Muhammad Arshad. "Genotyping of Platelet Alloantigens by DNA Sequencing in Pakistani Population." Journal of Islamabad Medical & Dental College 12, no. 2 (2023): 71–81. http://dx.doi.org/10.35787/jimdc.v12i2.981.

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Introduction: Single-nucleotide polymorphism (SNP) in human platelet antigens (HPAs) glycoproteins leads to alloimmunizations and platelet disorders such as posttransfusion purpura, neonatal alloimmune thrombocytopenia, and refractoriness to platelet transfusion. To study the prevalence in a particular ethnic group, genomic DNA is used to genotype HPAs. Detection of these polymorphisms is imperative to identify the risk of alloimmunization and the provision of HPAs. Current study was planned to determine the frequency of HPAs in the Pakistani population of blood donors. Methodology: Geno

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Rehman, Bushra, Amena Rahim, Muhammad Afzal, Aqsa Tazarrat, Humaira Kashif, and Sadia Qayyum. "Association of Nrf2 gene polymorphism (rs6721961) with semen parameters in primary male infertility cases in Pakistani population." Pakistan Armed Forces Medical Journal 72, no. 2 (2022): 398–402. http://dx.doi.org/10.51253/pafmj.v72i2.7565.

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Objective: To determine an association of single nucleotide polymorphism of the NRF2 gene (RS6721961) with semen parameters of primary male infertility patients in the Pakistani population. Study Design: Comparative cross-sectional study. Place and Duration of Study: Department of Biochemistry, Islamic International Medical College, Rawalpindi, in collaboration with two private infertility clinics (American Infertility Center, Rawalpindi and Mother and Child International Hospital and Research Institute, Mirpur, AJK) from Oct 2020 to Sep 2021. Methodology: A total of 288 part

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Shaheen, Abida, Syed Mahboob Alam, Fahad Azam, et al. "Lack of impact of OCTN1 gene polymorphisms on clinical outcomes of gabapentinoids in Pakistani patients with neuropathic pain." PLOS ONE 17, no. 5 (2022): e0266559. http://dx.doi.org/10.1371/journal.pone.0266559.

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Background and objective Gabapentinoids are the first-line drugs for neuropathic pain. These drugs are the substrate of organic cation transporter (OCTN1) for renal excretion and absorption across the intestinal epithelium. Gabapentinoids exhibit wide interindividual variability in daily dosage and therapeutic efficacy which makes titration regimens prolonged for optimal efficacy. The present study aimed to investigate the possible influence of the single nucleotide polymorphism (SNP) of OCTN1 on therapeutic efficacy and safety of gabapentinoids in neuropathic pain patients of the Pakistani po

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Arshad, Kainat, Uzma Ishfaq, Muhammad Asif, et al. "Association of GSTTI, M1 and Polymorphism in GSTPI with Chronic Periodontal Disease in a Pakistani Population." Genes 14, no. 2 (2023): 455. http://dx.doi.org/10.3390/genes14020455.

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Objective: Chronic periodontal disease (CP) is a multifactorial infectious and inflammatory disease that occurs due to the challenge between the immune response of the host and specific periodontal bacteria, and that can lead to tooth loss due to damage inflicted to the supporting tissue. The current study investigates the genotypes of the GSTM1 and GSTT1 genes, along with the allelic frequency of the single nucleotide polymorphism [SNP; rs1695] in the GSTP1 gene and correlates them individually or in various combinations with the incidence of CP. Methods: A total of 203 clinically confirmed C

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Sajjad, Mohammad, Naqib Ullah Khan, Samrin Gul, et al. "Cyclical response of maize populations versus base population and standard genotypes across environments." Revista de la Facultad de Agronomía, Universidad del Zulia 38, no. 3 (2021): 608–30. http://dx.doi.org/10.47280/revfacagron(luz).v38.n3.08.

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Recurrent selection is a cyclical breeding procedure in which selection is made generation after generation, with a reunion of selected plants to produce a new population for the next cycle of selection. Maize (Zea mays L.) base population 'PSEV3' was developed by using selfed progeny recurrent selection in spring and summer crop seasons during 2014 to 2016. During Summer 2017, two improved maize populations [PSEV3-(S1)-C1 and PSEV3-(S2)-C2], original genotype (PSEV3-C0) and three check varieties (two OPV - open-pollinated varieties - Azam and Jalal, and HV - hybrid variety - Kiramat) were ass

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Tabassum, Sobia, Sadaf Mushtaq, M. Naveed Anwar, et al. "Genetic Association of FTO rs9939609 Polymorphism with Hypertension in Pakistani Population." Pakistan Journal of Medical and Health Sciences 15, no. 11 (2021): 2985–88. http://dx.doi.org/10.53350/pjmhs2115112985.

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Background: Hypertension is a medical condition that often occurs parallel to diabetes and obesity. Previously, the role of fat mass and obesity associated (FTO) gene rs9939609 polymorphism (c.46-23525T>A) with obesity has been reported while prevalence and etiological differences exist among different regions and ethnic groups. Aim: To investigate the association of FTO rs9939609 SNP with hypertension in Pakistani population. Study design: Cross-sectional study. Place and duration of study: Institute of Biomedical and Genetic Engineering (IBGE), Islamabad, Pakistan from 1st January 2019 to

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Jalil, Syed Fazal, Attya Bhatti, F. Yesim Demirci, et al. "Replication of European Rheumatoid Arthritis Loci in a Pakistani Population." Journal of Rheumatology 40, no. 4 (2013): 401–7. http://dx.doi.org/10.3899/jrheum.121050.

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Objective.Genetic studies have identified several rheumatoid arthritis (RA) susceptibility loci in European-derived populations. The same biological pathways may be involved in determining the RA risk in different population groups. We sought to replicate the association of 33 single-nucleotide polymorphisms (SNP) from 31 RA susceptibility loci confirmed among Europeans in a unique Pakistani population.Methods.We genotyped 33 SNP in a sample of 366 Pakistanis that comprised related and unrelated cases and controls. Genotyping was performed using TaqMan assays and the results were analyzed with

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Khokhar, Ambreen Masroor, Saeed Khan, Maria Zahid, et al. "Analysis of the HBV small S gene partial sequences and its implications for detection, prevention and treatment in Pakistani patients." Molecular Medicine Communications 1, no. 1 (2021): 69–81. http://dx.doi.org/10.55627/mmc.001.01.0022.

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Hepatitis B virus (HBV) causes significant morbidity and mortality throughout the world, especially in developing countries. In Pakistan, the HBV infection rate is one of the highest in the world and about one third of infected population is co-infected with hepatitis C virus (HCV) and hepatitis D virus (HDV). In the present study, we isolated HBV from 49 HBV mono-infected and 25 HBV/HCV co-infected Pakistani patients and classified them based on the partial sequences of S gene. We further investigated mutations in these sequences that might result in the failure of hepatitis B surface antigen

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Ali, Yasir, Suleman Khan, Yangchao Chen, et al. "Association of AFF3 Gene Polymorphism rs10865035 with Rheumatoid Arthritis: A Population-Based Case-Control Study on a Pakistani Cohort." Genetics Research 2021 (May 15, 2021): 1–5. http://dx.doi.org/10.1155/2021/5544198.

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Rheumatoid arthritis (RA) is one of the complex diseases with the involvement of the genetic as well as environmental factors in its onset and severity. Different genome-wide association and candidate gene studies have shown the role of several genetic variants in multiple loci/genes with ethnical and geographical variations. This study was designed to detect the association of a single-nucleotide polymorphism (SNP) rs10865035 in the AFF3 gene with the genetic background of rheumatoid arthritis (RA) in the Pakistani cohort. A total of 703 individuals, including 409 RA patients and 294 healthy

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Arshad, Najma, Syed Kashif Nawaz, Riffat Iqbal, et al. "Association between Genetic Polymorphism and Risk of von Willebrand Disease in Pakistan." BioMed Research International 2017 (2017): 1–5. http://dx.doi.org/10.1155/2017/1070471.

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von Willebrand disease (VWD) is an inherited, genetically and clinically heterogeneous hemorrhagic disorder. The most common cause of this disease is mutation in the gene that encodes protein von Willebrand factor (VWF) which is responsible for blood clotting. The current study was designed to investigate the role of genetic polymorphisms with the onset of VWD in population of Pakistan. Three exonic variants (c.3445T>C; c.4975C>T; c.7603C>T) from VWF gene were used for the genotyping purpose. The current study employed a case-control association design involving 43 VWD patients and 10

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Amin, Muhammad Noor ul, Umme Habiba, Shahid Rashid, et al. "Validation of CDKN2A Variant rs10757278 in Pakistani Cardiomyopathy Patients." Pakistan Heart Journal 58, no. 2 (2025): 197–206. https://doi.org/10.47144/phj.v58i2.3137.

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Objectives: This study aimed to evaluate the association of the rs10757278 single nucleotide polymorphism (SNP) with cardiomyopathy, particularly its role in genetic susceptibility to ischemic dilated cardiomyopathy (IDCM). Methodology: A case-control study was conducted including 200 participants—100 cardiomyopathy patients and 100 healthy controls. Clinical and echocardiographic parameters were systematically recorded. Genotyping for rs10757278 was performed using tetra-primer ARMS-PCR. Allele and genotype frequencies were analyzed with odds ratios, and Hardy-Weinberg equilibrium was assesse

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Waqar, Muhammad, Habib Ur Rehman, Muhammad Wasim, et al. "Molecular detection of the Hepatitis C virus genotypes circulating among both sexes of Khyber Pakhtunkhwa, Pakistan." Asian Journal of Medical Sciences 5, no. 3 (2014): 72–76. http://dx.doi.org/10.3126/ajms.v5i3.9449.

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Background: Hepatitis C Virus (HCV) is the major cause of viral hepatitis. A few studies revealed that HCV genotypes; 3a, 3b, 1a and 1b are the most common genotypes found in the general population of Khyber Pakhtunkhwa. Aims and Objective: The current is designed to find out the prevalence of HCV genotypes among both sexes of Khyber Pakhtunkhwa. Study Methods: The present study was carried out in various area of Khyber Pakhtunkhwa during the period of July, 2012 to July, 2013. All the HCV positive samples were genotyped. The statistical analysis of the data was done by using Statistix 9.0 sof

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Ximenes, Rosana Christine Cavalcanti, Bashir Ahmed, Vahid Nikoui, Khuseyn Egamnazarov, and Muhammad Imran Khan. "Polymorphisms in CYP2C8 gene in Pakistani population and their frequencies in various ethnic groups." Molecular Medicine Communications 1, no. 1 (2021): 03–16. http://dx.doi.org/10.55627/mmc.001.01.0016.

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Cytochrome P4502C8 represents 7% of the hepatic cytochrome system and metabolizes around 5% of drugs in phase I processes. It also plays a significant role in the metabolism of endogenous compounds. More than 20 single nucleotide polymorphisms (SNPs) have been reported, mainly in exon 3, 5, and 8. Some of the SNP’s lead to decreased enzyme activity and may have impact on drug metabolism. This research study aims to determine the frequencies of the most common SNPs of the CYP2C8 gene (CYP2C8*2, *3, *4) in the Pakistani population. A cross-sectional study consisting of 391 healthy humans was con

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Hamza, H. M. U., M. W. Hassan, M. Jamil, and L. Ali. "VARIETAL SCREENING OF ONION (ALLIUM CEPA) GENOTYPES AGAINST ONION THRIPS (THRIPS TABACI) UNDER AGRO ECOLOGICAL CONDITIONS OF BAHAWALPUR, PAKISTAN." Pakistan Journal of Agriculture, Agricultural Engineering and Veterinary Sciences 40, no. 1 (2024): 45–51. http://dx.doi.org/10.47432/2024.40.1.6.

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A field study was conducted to investigate the relative resistance or susceptibility of different onion genotypes i.e., Amaloon, Dark red, Diana, Golden ORB, Phulkara, Red ORB and 88 against onion thrips, Thrips tabaci (Thysanoptera: Thripidae) under the agro-ecological conditions of Bahawalpur, Pakistan. The experiment was conducted at experimental area of The Islamia University of Bahawalpur. The research was performed in Randomized Complete Block Design with three replications. Results showed that genotype Dark red and genotype Diana were highly susceptible with 8.63 and 8.48 thrips per pla

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Nawaz, Syed Kashif, and Shahida Hasnain. "Effect of ACE polymorphisms on the association between noise and hypertension in a Pakistani population." Journal of the Renin-Angiotensin-Aldosterone System 12, no. 4 (2011): 516–20. http://dx.doi.org/10.1177/1470320310395799.

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Introduction: This study investigates the effect of angiotensin converting enzyme (ACE) polymorphisms on the association between noise and hypertension. Subjects and methods: A cross sectional study was conducted involving 385 male volunteers. In the control group 156 participants were exposed to a sound level of ≤80 dB; in the exposed group 229 individuals were exposed to a sound level ≥80 dB. Both groups were subdivided into categories on the basis of blood pressure. A polymerase chain reaction (PCR)-based strategy was used to differentiate the various genotypes of ACE ID and ACE G2350A. Ass

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Cheema, Asma Naseer, Dilek Pirim, Xingbin Wang, et al. "Association Study of Coronary Artery Disease-Associated Genome-Wide Significant SNPs with Coronary Stenosis in Pakistani Population." Disease Markers 2020 (June 27, 2020): 1–7. http://dx.doi.org/10.1155/2020/9738567.

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Genome-wide association studies (GWAS) of coronary artery disease (CAD) have revealed multiple genetic risk loci. We assessed the association of 47 genome-wide significant single-nucleotide polymorphisms (SNPs) at 43 CAD loci with coronary stenosis in a Pakistani sample comprising 663 clinically ascertained and angiographically confirmed cases. Genotypes were determined using the iPLEX Gold technology. All statistical analyses were performed using R software. Linkage disequilibrium (LD) between significant SNPs was determined using SNAP web portal, and functional annotation of SNPs was perform

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Ali Khan, M., F. Maghuly, E. G. Borroto-Fernandez, A. Pedryc, H. Katinger, and M. Laimer. "Genetic Diversity and Population Structure of Apricot (Prunus armeniaca L.) from Northern Pakistan using Simple Sequence Repeats." Silvae Genetica 57, no. 1-6 (2008): 157–64. http://dx.doi.org/10.1515/sg-2008-0024.

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Abstract A collection of 44 P. armeniaca accessions and three related species, from diverse geographic areas, covering the entire Northern hemisphere with emphasis on Pakistani apricots, was screened with 10 SSR primer pairs developed in apricot, to characterize the cultivars and establish their genetic relationship. Given the fact that the Central Asian region is considered a center of origin of apricot, particular attention was devoted to accessions from the Hunza region of Pakistan. The primers correctly amplified a repeatable polymorphic pattern, which unequivocally distinguished all genot

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Rafique, Mehwish, Ayesha Nasir, and Nida Saleem. "Genetic Variation in CYP2D6 and Adverse Effects in Cardiovascular Patients on Metoprolol Therapy." Precision Medicine Communications 4, no. 01 (2024): 41–49. https://doi.org/10.55627/pmc.004.001.0776.

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The CYP2D6 genetic variation seems to be important for several clinically used drugs including metoprolol. The frequency of adverse effects of metoprolol may vary depending upon the genotype of CYP2D6. However, how CYP2D6 genetic variation affects metoprolol's adverse effects is not well understood in the Pakistani population. In this study, we prospectively included Pakistani patients who started metoprolol treatment for cardiovascular indications. Decisions on inclusion and exclusion were made without awareness of the CYP2D6 genotype. Before intake of the first metoprolol dose, detailed medi

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Zarghuna Khan, Hareem, Zafar Sadiq, Imran Khan, and Muhammad Ali. "Treatment Response to Sertraline in the Pakistani Population and its Association with Cytochrome P450 2C19 Genotypes." Precision Medicine Communications 4, no. 01 (2024): 51–61. https://doi.org/10.55627/pmc.004.001.0777.

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Selective serotonin reuptake inhibitors (SSRIs) are metabolized differently depending on variations in the CYP2C19 gene. Clinical practitioners are using pharmacogenetic information based on the impact of CYP2C19 polymorphisms more frequently. Yet, the fundamental tenets connecting distinct metabolism to efficacy or adverse drug reactions are still poorly understood. This research was conducted in the hopes of establishing a link between genetic variants of the CYP2C19 gene and the therapeutic effect and adverse effects of the antidepressant Sertraline. The objective of this study was to deter

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Jan, Asif, Muhammad Saeed, Ramzi A. Mothana, et al. "Association of CYP2C9*2 Allele with Sulphonylurea-Induced Hypoglycaemia in Type 2 Diabetes Mellitus Patients: A Pharmacogenetic Study in Pakistani Pashtun Population." Biomedicines 11, no. 8 (2023): 2282. http://dx.doi.org/10.3390/biomedicines11082282.

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Polymorphism in cytochrome P450 (CYP) 2C9 enzyme is known to cause significant inter-individual differences in drug response and occurrence of adverse drug reactions. Different alleles of the CYP2C9 gene have been identified, but the notable alleles responsible for reduced enzyme activity are CYP2C9*2 and CYP2C9*3. No pharmacogenetic data are available on CYP2C9*2 and CYP2C9*3 alleles in the Pakistani population. In Pakistan, pharmacogenetics, which examines the relationship between genetic factors and drug response, are in the early stages of development. We, for the first time, investigated

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Khan, Muhammad Rameez, Zia-ur Rehman, Sidra Noreen Nazir, et al. "Genetic Divergence and Diversity in Himalayan Puccinia striiformis Populations from Bhutan, Nepal, and Pakistan." Phytopathology® 109, no. 10 (2019): 1793–800. http://dx.doi.org/10.1094/phyto-01-19-0031-r.

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The western Himalayan region in Pakistan has been shown to be the center of diversity of Puccinia striiformis; however, little is known about its genetic relations with the eastern part of the Himalayas. We studied the genetic structure of P. striiformis from Nepal (35 isolates) and Bhutan (31 isolates) in comparison with 81 Pakistani samples collected during 2015 and 2016, through microsatellite genotyping. Genetic analyses revealed a recombinant and highly diverse population structure in Pakistan, Bhutan, and Nepal. A high level of genotypic diversity (>0.90) was observed for the three co

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Malik, Saima Shakil, Gul Nawaz, and Nosheen Masood. "Genotypes of GSTM1 and GSTT1: Useful determinants for clinical outcome of bladder cancer in Pakistani population." Egyptian Journal of Medical Human Genetics 18, no. 1 (2017): 41–45. http://dx.doi.org/10.1016/j.ejmhg.2016.03.001.

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Akhter, Asma, Mahwish Javed, and Muhammad Imran. "Comparative Analysis of PCR and LIPA Method for HCV Genotypes Screening." BioScientific Review 01, no. 04 (2019): 29–38. http://dx.doi.org/10.32350/bsr.0104.04.

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Background: Hepatitis C virus (HCV) is a major health problem worldwide. About 6% of the population of Pakistan is suffering from HCV infection. HCV has a high mutation rate and consists of seven genotypes and sixty-seven subtypes. Genotype information of patients infected with HCV is significant for its treatment. Methods: In this study, 416 HCV serum samples were collected and HCV prevalence rate was studied in different districts of Punjab, Pakistan. Nested PCR and INNO LIPA HCV-II were used for HCV genotyping and their respective performance was evaluated. This study was conducted by the a

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Iqbal, Khurshid, Muhammad Imran, Shafi Ullah, Muhsin Jamal, and Yasir Waheed. "Correlation of Apolipoprotein B mRNA-editing Enzyme, Catalytic Polypeptide- like 3G Genetic Variant rs8177832 with HIV-1 Predisposition in Pakistani Population." Current HIV Research 16, no. 4 (2019): 297–301. http://dx.doi.org/10.2174/1570162x16666181018155827.

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Background: Human immunodeficiency virus (HIV) infection is a global health burden which ultimately results in acquired immune deficiency syndrome (AIDS). There are multiple host factors which are capable of limiting HIV-1 replication. One of the most important host factors which inhibit HIV-1 DNA synthesis is the apolipoprotein B mRNA-editing enzyme, catalytic polypeptide- like 3G (APOBEC3G). Any genetic variation of this important host factor may influence the host susceptibility to viral infection. Objective: The aim of the current study was to evaluate any correlation of APOBEC3G genetic v

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Khan, Muhammad Sohail, Bashir Rahman, Taqweem Ul Haq, et al. "Deciphering the Variants Located in the MIR196A2, MIR146A, and MIR423 with Type-2 Diabetes Mellitus in Pakistani Population." Genes 12, no. 5 (2021): 664. http://dx.doi.org/10.3390/genes12050664.

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MicroRNAs (miRNAs) are small non-coding RNA molecules that control the post-transcriptional gene expression. They play a pivotal role in the regulation of important physiological processes. Variations in miRNA genes coding for mature miRNA sequences have been implicated in several diseases. However, the association of variants in miRNAs genes with Type 2 Diabetes Mellitus (T2DM) in the Pakistani population is rarely reported. Therefore, the current study was designed to investigate the association of rs11614913 T/C (MIR196A2), rs2910164 G/C (MIR146A), and rs6505162 C/A (MIR423) in clinicopatho

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Maqbool, Hafsa, Tayyaba Saleem, Nadeem Sheikh, and Aqsa Ashfaq. "Genetic Analysis of CYP2C9 with Reference to Drug Response in Epilepsy Patients of Pakistan." Genetics Research 2022 (January 29, 2022): 1–6. http://dx.doi.org/10.1155/2022/1451007.

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Epilepsy is a major global issue. Epilepsy patients are treated with AED (antiepileptic drugs). Interindividual variability in drug response has been documented in several studies. The resistance to drug response may be attributed to genetic polymorphism. The current study was undertaken to investigate the CYP2C9 gene polymorphism associated with antiepileptic drug (AED) resistance in the Pakistani population. The current study included 337 individuals including 100 control subjects, 110 drug-resistant subjects, and 127 drug responders. Genomic DNA was isolated from blood, and amplification of

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