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Journal articles on the topic 'Human gene polymorphisms'

Author: Grafiati

Published: 3 June 2025

Last updated: 31 July 2025

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1

Liu, Li-Herng Eric, Wesley Gladwell, and Christina T. Teng. "Detection of exon polymorphisms in the human lactoferrin gene." Biochemistry and Cell Biology 80, no. 1 (2002): 17–22. http://dx.doi.org/10.1139/o01-207.

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We previously demonstrated that lactoferrin gene polymorphisms occur in cancer cells of patients with leukemia and breast cancer. In this study, we established a non-radioactive polymerase chain reactionsingle strand conformation polymorphism (PCRSSCP) analysis, one of the most sensitive and simplest methods to detect polymorphisms and mutations of the human lactoferrin gene. We optimized the PCR conditions for nine different DNA templates and 16 pairs of exon primers for SSCP analysis. The DNA templates used in the analyses were prepared from a cosmid clone (CT61) that contains the human l

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Fitriyani, Hilda, Delyuzar, and Hidayat. "Identification of CYP1A1 Gene Polymorphism in Squamous Cell Carcinoma and Cervical Adenocarcinoma." Majalah Patologi Indonesia 29, no. 2 (2020): 65–70. http://dx.doi.org/10.55816/mpi.v29i2.410.

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BackgroundCervical cancer is the third most common cancer in women with risk factor of smoking, high parity, long term use of oralcontaception that are associated with chemical carcinogenesis. Chemical carcinogenesis require biotransfor-mation of lipophilicsubstrates to hydrophilic metabolites, therefore facilitating their secretion from the human body. Cytochrome P450 (CYP) is one ofgenes that have important role in this process. Benzo[α]pyrene and estrogen have a common biotransformation process which ismetabolized by CYP, particularly CYP1A1. The objectives to identify the frequency and dis

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Conne, B., M. Berczy, and D. Belin. "Detection of Polymorphisms in the Human Urokinase-type Plasminogen Activator Gene." Thrombosis and Haemostasis 77, no. 03 (1997): 434–35. http://dx.doi.org/10.1055/s-0038-1655983.

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SummaryExpressed polymorphisms in the genes encoding components of the fibrinolytic cascade could have implications for the predisposition to thrombolytic disorders and/or for tumor metastasis. The occurrence of published two amino acid sequences at position 194 of the human urokinase-type plasminogen activator prompted us to search by SSCP for frequent polymorphisms in several exons of the gene. Surprisingly, only one sequence was detected in codon 194 (>200 alleles). Two polymorphisms were observed in this study: the most frequent one, a C to T change near the beginning of exon 8, is prob

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Qatatsheh, Ala A., Rula Amr, Murad A. Al-Holy, Amin N. Olaimat, and R. Ibrahim. "Identification of Single Nucleotide Polymorphisms in Selenium-Glutathione Peroxidase (GPX1) Gene." Current Research in Nutrition and Food Science Journal 7, no. 3 (2019): 819–27. http://dx.doi.org/10.12944/crnfsj.7.3.21.

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Human genetic variation is quite common with single nucleotide polymorphisms (SNPs) accounting for the majority of the variants. In the present study, primers for amplification of the appropriate part of the human GPX1 gene by polymerase chain reaction (PCR) were designed. The aim of this study was to develop a restriction fragment length polymorphism (RFLP) assay to detect and characterize GPX1 polymorphism in the coding region and validate the assays by sequencing. This study demonstrated that the RFLP method, which can be rapid, is reliable and valid as a tool for identifying the different

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Sufiawati, Irna, Risti Saptarini, and Eriska Riyanti. "HUBUNGAN POLIMORFISME GEN RESEPTOR ESTROGEN ALFA DENGAN JUMLAH SEL T CD4+ PADA ANAK TERINFEKSI HIV." ODONTO : Dental Journal 4, no. 2 (2017): 94. http://dx.doi.org/10.30659/odj.4.2.94-100.

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Background: Estrogen plays a key role in human physiological processes. Polymorphisms of estrogen receptors have been implicated in the development of numerous diseases. The aim of this study was to evaluate the frequency of ERα gene Pvull and Xbal polymorphisms and assessing their association with CD4+ T-cell counts in HIV-infected children on highly active antiretroviral therapy.Methods: CD4+ T cell counts were determined using the FACS count system. ERα PvuII and XbaI polymorphisms were analyzed by PCR-RFLP.Results: This study enrolled 34 HIV-infected children on HAART. The frequencies of t

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Protas, Valeria, Gayane Pogossyan, Konstantin Li, and Michael Danilenko. "Vitamin D receptor gene polymorphisms characteristic." Bulletin of the Karaganda University. “Biology, medicine, geography Series” 104, no. 4 (2021): 60–70. http://dx.doi.org/10.31489/2021bmg4/60-70.

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The article presents the characteristics of the main vitamin D receptor (VDR) gene polymorphisms: rs2228570 (FokI), rs731236 (TaqI), rs1544410 (BsmI) and rs7975232 (ApaI). The role of the vitamin D hormonally active form (1,25(OH)2D3, calcitriol) as a transcription factor regulating gene expression in target cells by binding to the vitamin D receptor protein is described. The immunomodulatory and mediating effect of VDRs on the biological functions of the human body has been noted. A description of the vitamin D receptor gene and its polymorphic character have been provided. The analysis of th

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Miyairi, Isao, and John P. DeVincenzo. "Human Genetic Factors and Respiratory Syncytial Virus Disease Severity." Clinical Microbiology Reviews 21, no. 4 (2008): 686–703. http://dx.doi.org/10.1128/cmr.00017-08.

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SUMMARY To explain the wide spectrum of disease severity caused by respiratory syncytial virus (RSV) and because of the limitations of animal models to fully parallel human RSV disease, study of genetic influences on human RSV disease severity has begun. Candidate gene approaches have demonstrated associations of severe RSV in healthy infants with genetic polymorphisms that may alter the innate ability of humans to control RSV (surfactants, Toll-like receptor 4, cell surface adhesion molecules, and others) and those that may control differences in proinflammatory responses or enhanced immunopa

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Novaković, Ivana, Nela Maksimović, Slobodan Cvetković, and Dragana Cvetković. "Gene Polymorphisms as Markers of Disease Susceptibility." Journal of Medical Biochemistry 29, no. 3 (2010): 135–38. http://dx.doi.org/10.2478/v10011-010-0022-y.

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Gene Polymorphisms as Markers of Disease SusceptibilityThe most widespread diseases of modern man have a polygenic basis, including genetic predisposition and factors in the external environment. Such is the case with cardiovascular disease, malignancy, diabetes and so on. It should be borne in mind that risk factors usually include disorders that are themselves multifactorial, which further indicates the complexity of pathophysiological mechanisms. In the investigation of genetic factors in polygenic diseases studies are underway to determine the association with specific gene polymorphisms.

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Ostadsharif, Maryam, Y. Badri Ebrahimi, Farzad R. Khorasgani, and Shahin Eghbalsaied. "Gene Polymorphisms of Human FTO and Obesity in Part of Iranian Population." Recent Advances in Biology and Medicine 5 (2019): 1. http://dx.doi.org/10.18639/rabm.2019.881123.

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As obesity is a multifactorial characteristic, identifying genetic risk factors can help to prevent obesity prevalence. In 2007, FTO (fat mass and obesity associated) gene was identified according to genome-wide association study. Several studies revealed that FTO polymorphisms are responsible for the risk of obesity. The primary objective of our study was assessment of FTO rs9939609 and rs9926289 polymorphisms as risk factors of obesity in part of the Iranian population. In our case–control study, 62 patients with obesity and 75 controls were selected according to their BMI (obese: BMI ≥ 30 k

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Wu, Fang, Wanjiang Zhang, Le Zhang, et al. "NRAMP1, VDR, HLA-DRB1, and HLA-DQB1 Gene Polymorphisms in Susceptibility to Tuberculosis among the Chinese Kazakh Population: A Case-Control Study." BioMed Research International 2013 (2013): 1–8. http://dx.doi.org/10.1155/2013/484535.

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Background. To explore the potential role of natural-resistance-associated macrophage protein 1 (NRAMP1) gene, vitamin D receptor (VDR) gene, (human leukocyte antigen, (HLA-DRB1) HLA) -DRB1 gene, and HLA-DQB1 gene polymorphisms in susceptibility to tuberculosis (TB) in the Chinese Kazakh population.Methods. A case-control study was performed on the Chinese Kazak population. Genetic polymorphisms of NRAMP1 gene (3′UTR) and VDR gene (TaqI and FokI) were analysed using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and sequencing analysis in TB patients and healthy

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Ji, Yuan, Eric M. Snyder, Brooke L. Fridley, et al. "Human phenylethanolamineN-methyltransferase genetic polymorphisms and exercise-induced epinephrine release." Physiological Genomics 33, no. 3 (2008): 323–32. http://dx.doi.org/10.1152/physiolgenomics.00248.2007.

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Phenylethanolamine N-methyltransferase (PNMT) catalyzes the synthesis of epinephrine from norepinephrine. We previously identified and functionally characterized common sequence variation in the PNMT gene. In the present study, we set out to determine whether common PNMT genetic polymorphisms might be associated with individual variation in circulating epinephrine levels during exercise in 74 Caucasian American subjects. Circulating epinephrine levels were measured in each subject at baseline and during two different levels of exercise, ∼40% and ∼75% of peak workload. The PNMT gene was reseque

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Esterbauer, Harald, Emanuel Hell, Franz Krempler, and Wolfgang Patsch. "Allele-specific Differences in Apolipoprotein C-III mRNA Expression in Human Liver." Clinical Chemistry 45, no. 3 (1999): 331–39. http://dx.doi.org/10.1093/clinchem/45.3.331.

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Abstract Background: Sequence variations at the apolipoprotein (apo)C-III gene locus have been associated with increased plasma triglycerides. In particular, the S2 allele of an SstI polymorphism in the 3′ untranslated region has been associated with hypertriglyceridemia in many populations. The aim of this study was to determine whether the variant S2 allele is related to increased mRNA expression in vivo. Methods: We measured allele-specific apoC-III expression in liver biopsies of five obese subjects, using restriction isotyping and a primer extension method, both based on the SstI polymorp

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Ibrahim, Maryam Sabri, Halah Dawood Salman, Aya Raed Alheany, and Shakir Hammad Al-Alwany. "Association between IL1R1 rs2234650 Polymorphism in Patients with Acute Lymphoblastic Leukemia Infected with HHV-6A." Al-Rafidain Journal of Medical Sciences ( ISSN 2789-3219 ) 8, no. 2 (2025): 16–21. https://doi.org/10.54133/ajms.v8i2.1705.

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Background: Everyone contracts the common infection known as human herpesvirus 6 (HHV-6). Particularly associated with encephalitis, human herpesvirus 6B (HHV-6B) poses a risk of morbidity and death to recipients of allogeneic hematopoietic stem cell transplants. IL-1β and interleukin-1α (IL-1α) are critical for enhancing infection resistance. Objective: To ascertain whether HHV-6A and the IL1R1 rs2234650 gene polymorphism are related and could be risk factors for Iraqi infants developing acute lymphoblastic leukemia (ALL). Methods: This case-control study included 150 blood samples from 100 p

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Itani, Hana A., Xuebo Liu, J. Howard Pratt, and Curt D. Sigmund. "Functional Characterization of Polymorphisms in the Kidney Enhancer of the Human Renin Gene." Endocrinology 148, no. 3 (2007): 1424–30. http://dx.doi.org/10.1210/en.2006-1381.

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The renin gene is regulated by an enhancer located 2.6 kb upstream of the transcription start site in the mouse and 11 kb upstream in humans. Despite extensive sequence conservation, the mouse renin enhancer is transcriptionally more active than the human renin enhancer. We report that the mechanism accounting for this is a result of sequence variation in the promoter proximal half-site of a retinoic-acid response element present in the enhancer. This sequence difference also prompted us to search for naturally occurring polymorphisms in the renin enhancer among normal and hypertensive human s

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R., Vasudevan, Ismail P., Jaafar N.I., et al. "Analysis of Human Bradykinin Receptor Gene and Endothelial Nitric Oxide Synthase Gene Polymorphisms in End-Stage Renal Disease Among Malaysians." Balkan Journal of Medical Genetics 17, no. 1 (2014): 37–40. http://dx.doi.org/10.2478/bjmg-2014-0023.

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Abstract The aim of this study was to determine the association of the c.894G>T; p.Glu298Asp polymorphism and the variable number tandem repeat (VNTR) polymorphism of the endothelial nitric oxide synthase (eNOS) gene and c.181C>T polymorphism of the bradykinin type 2 receptor gene (B2R) in Malaysian end-stage renal disease (ESRD) subjects. A total of 150 ESRD patients were recruited from the National Kidney Foundation’s (NKF)dialysis centers in Malaysia and compared with 150 normal healthy individuals. Genomic DNA was extracted from buccal cells of all the subjects. The polymerase chain

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Concannon, P., R. A. Gatti, and L. E. Hood. "Human T cell receptor V beta gene polymorphism." Journal of Experimental Medicine 165, no. 4 (1987): 1130–40. http://dx.doi.org/10.1084/jem.165.4.1130.

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Southern blot hybridizations with human T cell receptor V beta gene probes were used to determine the sizes of the various V beta gene subfamilies. An analysis of DNA samples from 100 unrelated individuals identified a single individual who lacked one V beta gene segment. A second individual had an apparently different repertoire of V beta gene segments in one subfamily, as assayed by hybridization, possibly due to a gene conversion event. An analysis with four restriction enzymes of DNA from 30 consanguineous donors detected restriction fragment length polymorphisms associated with 12 of 14 V

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Hay, CW, KA Robertson, SL Yong, AR Thompson, GH Growe, and RT MacGillivray. "Use of a BamHI polymorphism in the factor IX gene for the determination of hemophilia B carrier status." Blood 67, no. 5 (1986): 1508–11. http://dx.doi.org/10.1182/blood.v67.5.1508.bloodjournal6751508.

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A BamHI polymorphism has been identified in the human factor IX gene. This polymorphism, which occurs in approximately 6% of X chromosomes, has been used to determine the carrier status of a female in a family with a history of hemophilia B. This family was uninformative for the previously reported TaqI and Xmnl polymorphisms in the factor IX gene.

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Beutler, E., C. West, and T. Gelbart. "Polymorphisms in the human glucocerebrosidase gene." Genomics 12, no. 4 (1992): 795–800. http://dx.doi.org/10.1016/0888-7543(92)90311-f.

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Hay, CW, KA Robertson, SL Yong, AR Thompson, GH Growe, and RT MacGillivray. "Use of a BamHI polymorphism in the factor IX gene for the determination of hemophilia B carrier status." Blood 67, no. 5 (1986): 1508–11. http://dx.doi.org/10.1182/blood.v67.5.1508.1508.

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Abstract A BamHI polymorphism has been identified in the human factor IX gene. This polymorphism, which occurs in approximately 6% of X chromosomes, has been used to determine the carrier status of a female in a family with a history of hemophilia B. This family was uninformative for the previously reported TaqI and Xmnl polymorphisms in the factor IX gene.

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Kodydková, Jana, L. Vávrová, M. Kocík, and A. Žák. "Human Catalase, Its Polymorphisms, Regulation and Changes of Its Activity in Different Diseases." Folia Biologica 60, no. 4 (2014): 153–67. http://dx.doi.org/10.14712/fb2014060040153.

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Catalase (CAT) is a well-studied enzyme that plays an important role in protecting cells against the toxic effects of hydrogen peroxide. In human, it has been implicated in different physiological and pathological conditions. This review summarizes the information available on the function and role of CAT polymorphisms in pathogenesis of various pathophysiological states as well as on the regulation of CAT gene expression. Numerous studies have described the CAT polymorphisms and their link with various diseases. Changes in the CAT levels were reported in many different diseases and polymorphi

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Najafi, Zahra, Mohammad Khalaj-Kondori, Mohammad Ali Hosseinpour Feizi, and Shamsi Abbasaliizadeh. "Haplotype Effect of Two Human Leukocyte Antigen-G Polymorphisms of rs1736933 and rs2735022 on the Recurrent Pregnancy Loss." Journal of Qazvin University of Medical Sciences 24, no. 5 (2020): 398–409. http://dx.doi.org/10.32598/jqums.24.5.2.

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Background: Recurrent Pregnancy Loss (RPL) is a multifactorial disease that affects 1-3% of couples. Since Human Leukocyte Antigen-G (HLA-G) gene is involved in fetal maternal immune tolerance, mutations in the HLA-G gene can affect the success rate of pregnancy. Objective: The present study aims to investigate the haplotype effect of rs1736933 and rs2735022 polymorphisms found in the HLA-G gene on the RPL. Methods In this case-control study, participants were 100 women with RPL and 80 women with normal fertility in northwestern Iran. The HLA-G gene promoter was amplified by Polymerase Chain R

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Minina, Varvara I., Vladimir G. Druzhinin, Anna A. Lunina, et al. "ASSOCIATION OF DNA REPAIR GENE POLYMORPHISM WITH CHROMOSOMAL ABERRATIONS IN THE HUMAN LYMPHOCYTES." Ecological genetics 9, no. 2 (2011): 74–79. http://dx.doi.org/10.17816/ecogen9274-79.

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Analysis of association between several DNA repair gene polymorphisms and the level of chromosomal aberrations (CAs) in lymphocytes was performed in two groups of teenagers: a group of 256 donors exposed to indoor radon and a control group of 94 donors. In the group of children with living conditions exposing them to high doses of radon (> 200 Bq/m3 ), the level of CAs shows a significant increase in the carrier of genotypes: hOGG1 Cys/Cys, hOGG1 Ser/Cys, ADPRT Ala/Ala and ADPRT Val/Ala. Furthermore there were no significant associations between level of CA and Arg194Trp, Arg280His, Arg399G

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Slim, Rola, Florence Torremocha, Thierry Moreau, et al. "Loss-of-Function Polymorphism of the Human Kallikrein Gene with Reduced Urinary Kallikrein Activity." Journal of the American Society of Nephrology 13, no. 4 (2002): 968–76. http://dx.doi.org/10.1681/asn.v134968.

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ABSTRACT. Kallikrein is synthesized in the distal tubules and produces kinins, which are involved in the regulation of vascular tone in the kidney. Urinary kallikrein activity has been reported to be partly inherited and to be reduced in essential hypertension. In a systematic search for molecular variants of the human kallikrein gene, nine single-nucleotide polymorphisms were identified. Five of those polymorphisms, including two nonsynonymous substitutions in exon 3, i.e., Arg53His (allelic frequency in Caucasian subjects, 0.03) and Gln121Glu (allelic frequency, 0.33), were studied in a norm

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Tee, Yi-Torng, Shun-Fa Yang, Po-Hui Wang, et al. "G801A Polymorphism of Human Stromal Cell–Derived Factor 1 Gene Raises No Susceptibility to Neoplastic Lesions of Uterine Cervix." International Journal of Gynecologic Cancer 22, no. 8 (2012): 1297–302. http://dx.doi.org/10.1097/igc.0b013e318265d334.

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ObjectiveThis study aimed to investigate the association of stromal cell–derived factor 1 (SDF-1) gene polymorphisms with the neoplastic lesions of uterine cervix in Mid-Taiwan women.Materials and MethodsFour hundred ninety-eight blood samples were collected from 161 patients with neoplasia of uterine cervix, including 76 cancer patients, 61 patients with high-grade dysplasia, and 24 with low-grade dysplasia, and 337 healthy controls who lived in Mid-Taiwan. Polymorphism of the SDF-1 gene was examined using polymerase chain reaction–restriction fragment length polymorphism.ResultsFor SDF-1 gen

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Shiohara, M., WS el-Deiry, M. Wada, et al. "Absence of WAF1 mutations in a variety of human malignancies." Blood 84, no. 11 (1994): 3781–84. http://dx.doi.org/10.1182/blood.v84.11.3781.bloodjournal84113781.

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A newly cloned gene named wild-type p53-activated fragment 1 (WAF1; also known as p21, Pic-1, Cip-1, or SDI1) is directly regulated by p53 and can itself suppress tumor cell growth in culture. Induction of expression of WAF1 may be an important means by which cells with DNA injury arrest their growth to repair DNA or undergo apoptosis. Based on the hypothesis that mutations of this gene may play a role in carcinogenesis, we have studied 351 DNAs from 14 kinds of malignancies, as well as 36 human transformed cell lines, for alterations of WAF1 gene by single-strand conformation polymorphism ana

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Zuchuang, Wu, and Lv Pengfei. "Human Genetic Polymorphisms Contributing to Coronavirus Disease 2019 Susceptibility: A Bibliometric Analysis via CiteSpace." Journal of Biomaterials and Tissue Engineering 13, no. 5 (2023): 638–45. http://dx.doi.org/10.1166/jbt.2023.3302.

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A growing number of related research papers have been published in recent months about COVID-19 as a global pandemic. Research directions and hot topics can be identified by bibliometric analysis of these publications. Using the Web of Science database, we scanned the global literature about COVID-19 from 2020 to 2022.A search using keywords such as “COVID-19” and “genetic polymorphisms” led to relevant publications. A bibliometric analysis of these articles was conducted using CiteSpace. We identified 438 publications on COVID-19 with genetic polymorphisms. In terms of citation counts, Nature

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Cetina-Cetz, Irvin Rodrigo, Laura Conde-Ferráez, Jesús Gilberto Goméz-Carballo, Guadalupe Ayora-Talavera, and María del Refugio González-Losa. "Human papillomavirus 13 L1 gene polimorphism: first report." Revista Biomédica 33, no. 3 (2022): 96–104. http://dx.doi.org/10.32776/revbiomed.v33i3.1033.

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Introduction. Human papillomavirus 13 (HPV-13) belonging to Alphapapillomavirus-10 species, is an oral mucosotropic virus phylogenetically related to others human papillomavirus (6, 11, 44, 55 and 74). It causes Multifocal Epithelial Hyperplasia, an uncommon benign oral disease reported mainly amongst ethnic groups from America. Objective. To describe the genetic variability of the HPV-13 L1 gene. Material and Methods. A retrospective study including 50 oral samples from patients with Multifocal Epithelial Hyperplasia, and 25 samples from asymptomatic carriers of HPV-13, all subjects living in

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Pastinen, Tomi, Robert Sladek, Scott Gurd, et al. "A survey of genetic and epigenetic variation affecting human gene expression." Physiological Genomics 16, no. 2 (2004): 184–93. http://dx.doi.org/10.1152/physiolgenomics.00163.2003.

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The identification of human sequence polymorphisms that regulate gene expression is key to understanding human genetic diseases. We report a survey of human genes that demonstrate allelic differences in gene expression, reflecting the presence of putative allele-specific cis-acting factors of either genetic or epigenetic nature. The expression of allelic transcripts in heterozygous samples is assessed directly by relative quantitation of intragenic marker alleles in messenger or heteronuclear RNA derived from cells or tissues. This survey used 193 single-nucleotide polymorphisms (SNPs) from 12

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Fidler, Andrew E., Kees van Oers, Piet J. Drent, Sylvia Kuhn, Jakob C. Mueller, and Bart Kempenaers. "Drd4 gene polymorphisms are associated with personality variation in a passerine bird." Proceedings of the Royal Society B: Biological Sciences 274, no. 1619 (2007): 1685–91. http://dx.doi.org/10.1098/rspb.2007.0337.

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Polymorphisms in several neurotransmitter-associated genes have been associated with variation in human personality traits. Among the more promising of such associations is that between the human dopamine receptor D4 gene ( Drd4 ) variants and novelty-seeking behaviour. However, genetic epistasis, genotype–environment interactions and confounding environmental factors all act to obscure genotype–personality relationships. Such problems can be addressed by measuring personality under standardized conditions and by selection experiments, with both approaches only feasible with non-human animals.

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Citterio, Lorena, Simona Delli Carpini, Sara Lupoli, et al. "Klotho Gene in Human Salt-Sensitive Hypertension." Clinical Journal of the American Society of Nephrology 15, no. 3 (2020): 375–83. http://dx.doi.org/10.2215/cjn.08620719.

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Background and objectivesHypertension is a common aging-related disorder. Salt intake is one of the main environmental factors contributing to the development of hypertension. Transgenic mice with one-half Klotho deficiency displayed a spontaneous BP increase and salt-sensitive hypertension in response to high sodium intake. Usually circulating levels of α-Klotho decrease with age, and this reduction may be stronger in patients with several aging-related diseases. This study aimed at exploring the association of Klotho with salt sensitivity in humans.Design, setting, participants, & measur

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Font, M. P., Z. Chen, J. C. Bories, et al. "The V gamma locus of the human T cell receptor gamma gene. Repertoire polymorphism of the first variable gene segment subgroup." Journal of Experimental Medicine 168, no. 4 (1988): 1383–94. http://dx.doi.org/10.1084/jem.168.4.1383.

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Southern blot analysis using a genomic probe of the human TCR-gamma chain first variable gene subgroup (V gamma I) was performed on DNA samples from both parents of 36 healthy Caucasian families. Two types of polymorphisms were found in these 72 unrelated DNA samples: three repertoire polymorphisms and two restriction fragment length polymorphisms (RFLP). In all cases, Mendelian inheritance of these polymorphisms was demonstrated. The most frequent repertoire polymorphism consists in the lack of the V gamma 4 and V gamma 5 segments. In 16% of chromosomes, the Eco RI and Taq I restriction fragm

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Binaei, Saeed, Sahar M. Rashed та Michael L. Christensen. "β2-Adrenoreceptor Polymorphisms in Asthmatic Patients". Journal of Pediatric Pharmacology and Therapeutics 8, № 1 (2003): 22–28. http://dx.doi.org/10.5863/1551-6776-8.1.22.

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β2-adrenergic receptors (β2AR) are GTP-binding protein (G-protein) coupled receptors widely distributed in human tissue. Inhaled β2-agonist drugs exert their primary effect on the β2AR of bronchial smooth muscles, causing relaxation and bronchial dilatation. Polymorphisms in the β2AR gene have been identified, which may affect responsiveness to β2-agonists and disease severity in asthmatics. Nine single nucleotide polymorphisms (SNPs) within the coding region and eight SNPs within in the 5′ upstream region of the β2AR gene have been identified. The two most studied polymorphisms are mutations

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Afshar-Kharghan, Vahid, Carrol Sun, Hui Zhang та ін. "Polymorphism of the α2A-Adrenergic Receptor Gene and Epinephrine-Induced Platelet Aggregation." Blood 104, № 11 (2004): 1568. http://dx.doi.org/10.1182/blood.v104.11.1568.1568.

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Abstract The α2A-adrenergic receptor mediates important physiologic responses, such as regulation of blood pressure, control of sympathetic autonomic responses, as well as the platelet response to epinephrine. The gene encoding the α2A-adrenergic receptor is polymorphic. One of the polymorphisms, known as the Dra I polymorphism, is located in the 3′ untranslated region of this gene. The Dra I polymorphism of the α2A-adrenergic receptor is associated with a higher incidence of systemic arterial hypertension among African-Americans. Although the presence of this polymorphism was known by Souther

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Holt, R. J., C. Vandiedonck, S. A. Willis-Owen, et al. "A functional AT/G polymorphism in the 5′-untranslated region of SETDB2 in the IgE locus on human chromosome 13q14." Genes & Immunity 16, no. 7 (2015): 488–94. http://dx.doi.org/10.1038/gene.2015.36.

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Abstract The immunoglobulin E (IgE)-associated locus on human chromosome 13q14 influencing asthma-related traits contains the genes PHF11 and SETDB2. SETDB2 is located in the same linkage disequilibrium region as PHF11 and polymorphisms within SETDB2 have been shown to associate with total serum IgE levels. In this report, we sequenced the 15 exons of SETDB2 and identified a single previously ungenotyped mutation (AT/G, rs386770867) in the 5′-untranslated region of the gene. The polymorphism was found to be significantly associated with serum IgE levels in our asthma cohort (P=0.0012). Electro

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Ito, Soichiro, Takeshi Hirota, Miyu Yanai, et al. "Effects of Genetic Polymorphisms of Cathepsin A on Metabolism of Tenofovir Alafenamide." Genes 12, no. 12 (2021): 2026. http://dx.doi.org/10.3390/genes12122026.

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Cathepsin A (CatA) is important as a drug-metabolizing enzyme responsible for the activation of prodrugs, such as the anti-human immunodeficiency virus drug Tenofovir Alafenamide (TAF). The present study was undertaken to clarify the presence of polymorphisms of the CatA gene in healthy Japanese subjects and the influence of gene polymorphism on the expression level of CatA protein and the drug-metabolizing activity. Single-strand conformation polymorphism method was used to analyze genetic polymorphisms in healthy Japanese subjects. Nine genetic polymorphisms were identified in the CatA gene.

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Moreno, M. U., A. Fortuño, G. San José, et al. "NEW POLYMORPHISMS IN THE HUMAN P22PHOX GENE." Journal of Hypertension 22, Suppl. 2 (2004): S6. http://dx.doi.org/10.1097/00004872-200406002-00012.

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Fisher, E. A., P. M. Coates, and J. A. Cortner. "Gene Polymorphisms and Variability of Human Apolipoproteins." Annual Review of Nutrition 9, no. 1 (1989): 139–60. http://dx.doi.org/10.1146/annurev.nu.09.070189.001035.

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Otterness, Diane, Carol Szumlanski, Lynne Lennard, et al. "Human thiopurine methyltransferase pharmacogenetics: Gene sequence polymorphisms*." Clinical Pharmacology & Therapeutics 62, no. 1 (1997): 60–73. http://dx.doi.org/10.1016/s0009-9236(97)90152-1.

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Kainulainen, K., J. Rosenbloom, and L. Peltonen. "Two polymorphisms for the human elastin gene." Nucleic Acids Research 18, no. 10 (1990): 3114. http://dx.doi.org/10.1093/nar/18.10.3114-a.

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Inui, Akio. "Neuropeptide gene polymorphisms and human behavioural disorders." Nature Reviews Drug Discovery 2, no. 12 (2003): 986–98. http://dx.doi.org/10.1038/nrd1252.

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Okajima, K., W. A. Paznekas, T. Burstyn, and E. W. Jabs. "Polymorphisms in the Human SNAIL (SNAI1) gene." Molecular and Cellular Probes 15, no. 1 (2001): 53–55. http://dx.doi.org/10.1006/mcpr.2000.0332.

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Makowska-Kaczmarska, Marzena, Anna Okoń, and Elżbieta Olszewska. "Role of polymorphism of the interleukin-1B gene and other genetic polymorphisms in the aetiology of root resorption in patients receiving orthodontic treatment." Forum Ortodontyczne 13, no. 1 (2017): 36–42. http://dx.doi.org/10.5604/01.3001.0010.2604.

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Aim. The aim of the work was to present the latest directions in the research on gene polymorphisms in the global population and to discuss their potential role in the pathogenesis of root resorption during orthodontic treatment. Material and methods. A review of the literature in Polish and English from the years 1990–2015 was conducted using PubMed/MEDLINE databases and the results of studies kept in the database of the National Centre for Biotechnology Information were used. Key words used: genetics of root resorption, genetic polymorphism, interleukin-1B. Results. 19 articles were analysed

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Weiner, Marc, Charles Peloquin, William Burman, et al. "Effects of Tuberculosis, Race, and Human Gene SLCO1B1 Polymorphisms on Rifampin Concentrations." Antimicrobial Agents and Chemotherapy 54, no. 10 (2010): 4192–200. http://dx.doi.org/10.1128/aac.00353-10.

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ABSTRACT Rifampin has concentration-dependent activity against Mycobacterium tuberculosis. However, marked intersubject variation of rifampin concentrations occurs. In this study, we evaluated rifampin pharmacokinetics in relation to tuberculosis, geographic region, race, and single nucleotide polymorphisms of the human transporter genes SLCO1B1, SLCO1B3, and MDR1. Seventy-two adults with pulmonary tuberculosis from Africa, North America, and Spain were evaluated during multidrug intensive-phase therapy, and their results were compared to those from 16 healthy controls from North America. Rifa

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Kumagai, Hiroshi, Takuro Tobina, Noriko Ichinoseki-Sekine, et al. "Role of selected polymorphisms in determining muscle fiber composition in Japanese men and women." Journal of Applied Physiology 124, no. 5 (2018): 1377–84. http://dx.doi.org/10.1152/japplphysiol.00953.2017.

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Genetic polymorphisms and sex differences are suggested to affect muscle fiber composition; however, no study has investigated the effects of genetic polymorphisms on muscle fiber composition with respect to sex differences. Therefore, the present study examined the effects of genetic polymorphisms on muscle fiber composition with respect to sex differences in the Japanese population. The present study included 211 healthy Japanese individuals (102 men and 109 women). Muscle biopsies were obtained from the vastus lateralis to determine the proportion of myosin heavy chain (MHC) isoforms (MHC-I

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Harkavenko, М. О., and K. V. Tarasenko. "ROLE OF DETOXIFICATION ENZYME GENE POLYMORPHISM IN ANESTHESIOLOGY PRACTICE." Актуальні проблеми сучасної медицини: Вісник Української медичної стоматологічної академії 25, no. 2 (2025): 292–99. https://doi.org/10.31718/2077-1096.25.2.292.

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Objective: To analyze scientific publications that reflect current understanding of gene polymorphisms of detoxification enzymes and their role in anesthesiological practice. Materials and methods. This work is a literature review focused on analyzing data regarding the influence of gene polymorphisms in detoxification enzymes on the course of anesthesia, patient responses to anesthetics, and the potential complications arising in anesthesiology. To achieve the aim of the study, scientific sources from open-access databases such as PubMed, Scopus, and Web of Science were used. Resluts. The met

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Botto, M., K. Y. Fong, A. K. So, C. Koch, and M. J. Walport. "Molecular basis of polymorphisms of human complement component C3." Journal of Experimental Medicine 172, no. 4 (1990): 1011–17. http://dx.doi.org/10.1084/jem.172.4.1011.

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C3 exhibits two common allotypic variants that may be separated by gel electrophoresis and are called C3 fast (C3 F) and C3 slow (C3 S). C3 F, the less common variant, occurs at appreciable frequencies only in Caucasoid populations (gene frequency = 0.20). An increased prevalence of the C3 F allele has been reported in patients with partial lipodystrophy, IgA nephropathy, and Indian childhood hepatic cirrhosis. Studies of the genomic organization of the human C3 gene led to the identification of a single change (C to G) between C3 S and C3 F at nucleotide 364 in exon 3. This leads, at the tran

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Karimian, Mohammad, and Abasalt Hosseinzadeh Colagar. "Association of C677T transition of the human methylenetetrahydrofolate reductase (MTHFR) gene with male infertility." Reproduction, Fertility and Development 28, no. 6 (2016): 785. http://dx.doi.org/10.1071/rd14186.

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The human methylenetetrahydrofolate reductase (MTHFR) gene encodes one of the key enzymes in folate metabolism. This gene is located on chromosome 1 (1p36.3), which has 12 exons. The aim of the present study was to investigate the possible association of the two (C677T and A1298C) polymorphisms of this gene with male infertility. In a case-control study, 250 blood samples were collected from IVF centres in Sari and Babol (Iran): 118 samples were from oligospermic men and 132 were from controls. Two single nucleotide polymorphisms of the MTHFR genotype were detected using polymerase chain react

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Verheijen, F. M., M. Sprong, J. M. E. Kloosterman, G. Blaauw, J. H. H. Thijssen, and M. A. Blankenstein. "TP53 Mutations in Human Meningiomas." International Journal of Biological Markers 17, no. 1 (2002): 42–48. http://dx.doi.org/10.1177/172460080201700105.

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Overexpression of p53 has been reported to play a role in the development of neoplasms of the central nervous system. Meningiomas are generally benign intracranial tumors originating from the meninges. Overexpression of the p53 protein in meningiomas and an association with histological type and recurrence has been reported. Mutation of the TP53 gene leads to a more stable p53 protein in quantities high enough for detection by immunohistochemistry. In the search for these mutations the core domain of the TP53 gene of meningiomas has been analyzed. Only a very low incidence of mutations was rep

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Zhang, Rong, Wei Yang, Ying Chun Li, et al. "The OPN Gene Polymorphism Confers the Susceptibility and Response to Ara-C Based Chemotherapy in Chinese AML Patients." Cellular Physiology and Biochemistry 35, no. 1 (2015): 175–83. http://dx.doi.org/10.1159/000369685.

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Aim: To investigate the possible association between the Osteopontin (OPN) gene polymorphisms and the susceptibility and chemotherapy response of acute myeloid leukemia patients. Methods: A total of 381 patients with de nova AML and 430 healthy controls were enrolled. All patients received Ara-C-based standard induction chemotherapy regimens, and the treatment response was evaluated. Several polymorphisms in the human OPN encoding gene have been identified. The OPN) gene polymorphisms at 3 loci, namely, -156 GG>G, -443 C>T and -66T>G were determined. Results: We identified that the -4

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Tejasvi, ML Avinash, Gopal Maragathavalli, Putcha Uday Kumar, M. Ramakrishna, Vijaya Raghavan, and Anulekha Avinash CK. "Impact of ERCC2 Gene Polymorphisms on OSCC Susceptibility and Clinical Characteristics." Global Medical Genetics 07, no. 04 (2020): 121–27. http://dx.doi.org/10.1055/s-0041-1722952.

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Abstract Background DNA repair systems play an important role in maintaining the integrity of the human genome. Deficiency in the repair capacity due to either mutations or inherited polymorphisms in DNA repair genes may contribute to variations in the DNA repair capacity and subsequently susceptibility to cancer. Objectives This study aimed to investigate the association between Excision repair cross-complementation groups 2 (ERCC2) single nucleotide polymorphisms (SNPs rs1799793 and rs13181) and the response to platinum-based chemotherapy among patients with oral squamous cell carcinoma (OSC

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