Relevant bibliographies by topics / Polymorphism of gene

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  1. Journal articles
  2. Dissertations / Theses
  3. Books
  4. Book chapters
  5. Conference papers
  6. Reports

Academic literature on the topic 'Polymorphism of gene'

Author: Grafiati
Published: 28 May 2022
Last updated: 31 July 2025

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Journal articles on the topic "Polymorphism of gene"

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Dimitrijević, Sanja, Biljana Jekić, Suzana Cvijetičanin, et al. "KCC2 rs2297201 Gene Polymorphism Might be a Predictive Genetic Marker of Febrile Seizure." ASN Neuro 14 (April 12, 2022): 1–8. https://doi.org/10.1177/17590914221093257.

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Introduction:Febrile seizures (FS) are the most common neurological disease in childhood. The etiology of FS is the subjectof numerous studies including studies regarding genetic predisposition.Aim:The aim of the study was to analyze the asso-ciation ofTRPV1rs222747 andKCC2rs2297201 gene polymorphisms with the occurrence of FS.Materials and Methods:The study included 112 patients diagnosed with FS classified as simple febrile seizures (SFS) or complex febrile seizures (CFS).We analyzed selected polymorphisms ofKCC2andTRPV1genes using the Real-time PCR method.Results:The CT and TTgenotypes of t
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Pradhan, Devina, Tarang Mehta, Arpita Srivastava, et al. "Evaluation of the Importance of Genetic Polymorphisms in Genes Expressing Cancer-Metabolizing Enzymes (Cyp1a1 and Gstm1) in Oral Submucous Fibrosis." Journal of Pharmacy and Bioallied Sciences 16, Suppl 3 (2024): S2785—S2787. http://dx.doi.org/10.4103/jpbs.jpbs_413_24.

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ABSTRACT Background: Genetic polymorphisms are common and contribute significantly to human illnesses. Aim: This study was carried out to evaluate the importance of genetic variations in the genes expressing cancer-metabolizing enzymes (CYP1A1 and GSTM1) in individuals experiencing oral submucous fibrosis (OSMF). Methods and Materials: Based on the clinical and histological characteristics of OSMF, 40 patients were chosen for the study; 10 of these patients had considerable polymorphism and malignant transformation; therefore, they were placed in a different group. After receiving written agre
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Guldiken, Baburhan, Tammam Sipahi, Remziye Tekinarslan, et al. "Calcitonin Gene Related Peptide Gene Polymorphism in Migraine Patients." Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques 40, no. 5 (2013): 722–25. http://dx.doi.org/10.1017/s0317167100014980.

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Abstract:Objective:Calcitonin gene related peptide (CGRP), which has a vasodilator effect, is held responsible for neurogenic inflammation and vasodilatation of the cranial vessels in migraine pathophysiology. In this study, we investigated the association between alpha CGRP gene polymorphism (CALCA T-692C) and migraine.Material and Methods:One hundred and thirty-four female migraineurs and 96 healthy female cases were enrolled in the study. The patient group was further subdivided into migraine with and without aura groups. The CALCA T-692C gene polymorphism was identified using polymerase ch
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Laine, Marja L., Bruno G. Loos, and W. Crielaard. "Gene Polymorphisms in Chronic Periodontitis." International Journal of Dentistry 2010 (2010): 1–22. http://dx.doi.org/10.1155/2010/324719.

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We aimed to conduct a review of the literature for gene polymorphisms associated with chronic periodontitis (CP) susceptibility. A comprehensive search of the literature in English was performed using the keywords: periodontitis, periodontal disease, combined with the words genes, mutation, or polymorphism. Candidate gene polymorphism studies with a case-control design and reported genotype frequencies in CP patients were searched and reviewed. There is growing evidence that polymorphisms in theIL1, IL6, IL10, vitamin D receptor, andCD14genes may be associated with CP in certain populations. H
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Čítek, J., L. Hanusová, M. Brzáková, L. Večerek, L. Panicke, and L. Lískovcová. "Associations between gene polymorphisms, breeding values, and glucose tolerance test parameters in German Holstein sires." Czech Journal of Animal Science 63, No. 5 (2018): 167–73. http://dx.doi.org/10.17221/8/2017-cjas.

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The association between several gene polymorphisms, the estimated breeding values for milk performance traits, and glucose metabolism measured by the glucose tolerance test (GTT) in German Holstein sires were evaluated. Polymorphisms in DGAT1, GH1, GHR, FASN, and OLR1 genes were not associated with the GTT. A significant relationship was obtained for the DGAT1 AA/GC polymorphism and estimated breeding values for milk performance (milk yield, fat and protein yield, fat and protein percentage). The polymorphism in GHR was significantly associated with estimated breeding values for fat yield, and
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Baranova, N. I., L. A. Ashchina, O. A. Kulieva, and A. I. Bolgova. "The association of cytokine gene polymorphisms with the development and course of COVID-19." Journal Infectology 17, no. 1 (2025): 36–45. https://doi.org/10.22625/2072-6732-2025-17-1-36-45.

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Objective: to study polymorphic variants of IL-2 (T330G), IL-10 (A592C), IL-6 (rs180795), INF a/b receptor (rs9984273), INFL4 (rs368234815), INFL3 (rs12979860), INF-γ (rs2430561) genes in COVID-19 patients to determine the risk of development and severity of the disease.Materials and methods: genetic analysis of the studied gene polymorphisms was performed in 172 patients with COVID-19 (group 1 – with mild, group 2 – with moderate and group 3 – with severe and extremely severe degrees of severity). The control group consisted of 40 healthy donors. Statistical processing of the obtained results
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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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Sorokina, E. Yu, N. N. Denisova, and E. E. Keshabyants. "Frequency of occurrence of genetic polymorphisms associated with sports success in elite athletes in team sports." Sports medicine: research and practice 11, no. 1 (2021): 5–10. http://dx.doi.org/10.47529/2223-2524.2021.1.11.

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Objective: to evaluate the frequency of occurrence of polymorphisms rs1815739 (ACTN3 gene), rs2016520 (PPARD gene), rs1042713 (ADRB2 gene), rs1799945 (HFE gene) in athletes of high­performance sports.Materials and methods: genotyping was performed using allele­specific amplification with real­time detection of the results and using TaqMan probes.Results: a higher frequency of alleles associated with endurance was found: the t allele of the rs1815739 polymorphism (ACTN3 gene), the g allele of the rs2016520 polymorphism (PPARD gene), the g allele of the rs1042713 polymorphism (ADRB2 gene), and t
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Özturan Şirin, Ayçıl, and Yasemin Akdevelioğlu. "The relationship of energy-restricted diet with FTO and MC4R gene polymorphism in patients with polycystic ovary syndrome." Cukurova Medical Journal 49, no. 3 (2024): 580–91. http://dx.doi.org/10.17826/cumj.1447513.

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Purpose: The aim of this study was to determine whether the effects of an energy-restricted diet on overweight/obese patients with PCOS on body composition and biochemical parameters in groups with MC4R rs17782313 and FTO rs9939609 polymorphisms differ from those without gene polymorphism. Materials and Methods: A total of 48 women aged 18-45 were accepted. An 8-week diet intervention was applied, and anthropometric measurements, biochemical parameters and food consumption of the patients were determined before and after the intervention. In addition, FTO gene rs9939609 and MC4R gene rs1778231
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Anisenkova, A., Y. Kovalev, A. Kuchinskii, et al. "Structural features of DNAin women with ischemic heart disease." "Arterial’naya Gipertenziya" ("Arterial Hypertension") 14, no. 1 (2008): 53–58. http://dx.doi.org/10.18705/1607-419x-2008-14-1-53-58.

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Clinical aspects, risk factors, results of selective coronary angiography, features of DNA-polymorphism (I/D polymorphism of gene ACE, isoalleles polymorphism gene APOE, SsTI polymorphism gene АРОСЗ, С677Т polymorphism of gene MTHFR, 4a/4b, G894T and T786C polymorphisms eNOs) in 89 women with a various degree of a coronary obstruction. In patients with sings of coronary artery atherosclerosis, familial history i heart disease was observed in most cases (greater degree on a line of mother). The obtained data show the reliable role of allele T, genotype CT gene MTHFRand gene-gene interaction of
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Dissertations / Theses on the topic "Polymorphism of gene"

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Tellier, Aurélien. "A theory of polymorphism in gene-for-gene interactions." Thesis, University of East Anglia, 2007. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.439932.

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Atan, Deniz. "Cytokine gene polymorphism in non-infectious uveitis." Thesis, University of Bristol, 2008. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.492470.

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Non-infectious uveitis is a blinding intraocular inflammatory disorder with an autoimmune pathogenesis. Like other autoimmune diseases, uveitis has multifactorial and polygenic aetiology. The results of this study have shown that polymorphisms of the ILIO and TNF genes influence the susceptibility and seventy of uveitis. These polymorphisms were either known to correlate with altered transcription levels, or linked with other polymorphisms positioned within regulatory conserved non-coding sequences. Thus the identification of specific genetic variants that confer susceptibility or resistance t
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Sankaran, David. "Cytokine gene polymorphism and kidney transplant outcome." Thesis, University of Manchester, 1999. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.488310.

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The pro-inflammatory cytokine TNF -a. and the immunoregulatory cytokine IL-IO have been implicated in acute rejection of kidney allografts. Similarly, the pro-fibrotic cytokine TGF-IJ 1 has been reported to be involved in the development of chronic rejection. It has also been shown that polymorphisms in the TNFA gene promoter (position -308) and in the TGF-IJI gene (at codon 25) correlate with differential production of these cytokines in vitro. Gene polymorphisms in the IL-IO promoter were also identified previously. However, their function had not been determined. Therefore, the initial part
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Pandya, Bhavna Kalpesh. "Thiopurine s-methyl transferase gene polymorphism : Clinical correlations." Thesis, University of Manchester, 2010. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.529233.

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Tomeson, D. "Nucleotide excision repair gene polymorphism and skin cancer." Thesis, University of Edinburgh, 2001. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.662988.

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The most important environmental risk factor for skin cancer is sunlight exposure. The genetic component is seen in the inherited genodermatoses, such as Xeroderma Pigmentosum (XP), where there is a 1000-fold increased risk of skin cancer. Nucleotide excision repair (NER), the pathway responsible for removal of UV-induced DNA damage, is defective in XP patients. The XPB and XPD helicases are essential components of the NER pathway. Frequent polymorphisms have been reported in NER genes and polymorphisms in ERCC2, ERCC1 and XPF have been investigated for association with various types of cancer
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Moskaliuk, I. I., and O. I. Fediv. "Thyrotoxicosis and irritable bowel syndrome: SERT-gene polymorphism." Thesis, БДМУ, 2017. http://dspace.bsmu.edu.ua:8080/xmlui/handle/123456789/17104.

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Liu, Shuk Ming. "Single nucleotide polymorphism in human microsomal glutathione s-transferase gene and colorectal cancer /." View Abstract or Full-Text, 2003. http://library.ust.hk/cgi/db/thesis.pl?BIOL%202003%20LIU.

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Thesis (M. Phil.)--Hong Kong University of Science and Technology, 2003.<br>Includes bibliographical references (leaves 95-105). Also available in electronic version. Access restricted to campus users.
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Raunio, T. (Taina). "Gene polymorphism and systemic inflammatory response in chronic periodontitis." Doctoral thesis, University of Oulu, 2009. http://urn.fi/urn:isbn:9789514292361.

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Abstract In this study, associations between periodontitis expression, serum levels of inflammatory markers and genetic factors were investigated. The periodontal status of 56 subjects with chronic periodontitis, 28 control subjects and 80 subjects with type I diabetes mellitus (DM) was examined. In addition, a reference group (n=178) with genetic but not with periodontal health data was included. The single nucleotide polymorphisms of CD14 -260, IL-6 -174, TNF-α -308, IL-10 -1082, IL-1A -889, IL-1B +3954, and TLR4 +896 were determined using PCR with RFLP or allele-specific primers, and compar
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Wiener, Christopher Charles. "Intraspecific 16S ribosomal RNA gene polymorphism in Staphylococcus epidermidis." Thesis, National Library of Canada = Bibliothèque nationale du Canada, 1999. http://www.collectionscanada.ca/obj/s4/f2/dsk2/ftp01/MQ39895.pdf.

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Muhammed, H., Андрій Миколайович Лобода, Андрей Николаевич Лобода, and Andrii Mykolaiovych Loboda. "Gene polymorphism in patients with type 1 diabetes mellitus." Thesis, Sumy State University, 2017. http://essuir.sumdu.edu.ua/handle/123456789/60769.

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Type 1 diabetes mellitus (T1DM) is a common medical and social problem, which frequency increased during last decade. Annual incidence varies from 0.61 cases per 100,000 population in China to 41.4 cases per 100,000 population in Finland. A general amount ill child in Ukraine in 2016 is approximately 8,500. T1DM is a disease with heterogeneous etiology, influenced by environmental factors and prevalent autoimmune susceptibility. Predisposition of the autoimmune pancreatic β-cell destruction has been associated with genetic variations on different chromosomes.
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Books on the topic "Polymorphism of gene"

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Masatoshi, Nei, ed. Humanpolymorphic genes. Oxford University Press, 1988.

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Koen, Vandenbroeck, ed. Cytokine gene polymorphisms in multifactorial conditions. CRC Taylor & Francis, 2006.

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Roychoudhury, Arun K. Human polymorphic genes: World distribution. Oxford University Press, 1988.

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Farhan, Ayar Jawi. T cell receptor gene polymorphism and usage in rheumatoid arthritis. University of Manchester, 1997.

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Ellegren, Hans. Genome analysis with microsatellite markers. Dept. of Animal Breeding and Genetics, Swedish University of Agricultural Sciences, 1993.

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George, Stamatoyannopoulos, and Nienhuis Arthur W, eds. Experimental approaches for the study of hemoglobin switching: Proceedings of the Fourth Conference on Hemoglobin Switching, October 1-3, 1984. A.R. Liss, 1985.

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Liu, Zhanjiang. Next generation sequencing and whole genome selection in aquaculture. Wiley-Blackwell, 2011.

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Green, Elaine. Apolipoproteins E and (a) gene polymorphisms and susceptibility to coronary heart disease. University of Birmingham, 1994.

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J, Henry Robert, ed. Plant genotyping II: SNP technology. CABI, 2008.

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de, Vienne D., ed. Molecular markers in plant genetics and biotechnology. Science Publishers, 2003.

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Book chapters on the topic "Polymorphism of gene"

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Crute, Ian R. "Gene-for-gene recognition in plant—pathogen interactions." In Infection, Polymorphism and Evolution. Springer Netherlands, 1997. http://dx.doi.org/10.1007/978-94-009-0077-6_8.

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Hamon, Martial, and Carole Amant. "Gene Polymorphism and Restenosis." In Arterial Remodeling: A Critical Factor in Restenosis. Springer US, 1997. http://dx.doi.org/10.1007/978-1-4615-6079-1_26.

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Rich, Alexander. "Conformational Polymorphism in DNA." In Evolutionary Tinkering in Gene Expression. Springer US, 1989. http://dx.doi.org/10.1007/978-1-4684-5664-6_1.

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Cui, Songkui, Abdelbagi M. A. Ghanim, and Satoko Yoshida. "Identification of Closely Related Polymorphisms with Striga Resistance Using Next Generation Sequencing." In Mutation Breeding and Efficiency Enhancing Technologies for Resistance to Striga in Cereals. Springer Berlin Heidelberg, 2023. http://dx.doi.org/10.1007/978-3-662-68181-7_9.

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AbstractMolecular markers are powerful tools to enhance speed of breeding. Recent advances of sequencing technology allow us to identify most polymorphisms in a genome. Whole genome resequencing of an F2 segregating population can identify those polymorphisms that co-segregate with a mutant phenotype, which theoretically include the gene responsible for Striga resistance gained through mutagenesis. This protocol explains the isolation of high-quality genomic DNA for sequencing and step-by-step procedures for single nucleotide polymorphism (SNP) identification from bulked F2 sequences.
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Cook, L. M., and R. S. Callow. "Gene interplay models for polymorphism." In Genetic and Evolutionary Diversity. Garland Science, 2023. http://dx.doi.org/10.1201/9781003421887-15.

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Vinall, Lynne E., Wendy S. Pratt, and Dallas M. Swallow. "Detection of Mucin Gene Polymorphism." In Glycoprotein Methods and Protocols. Humana Press, 2000. http://dx.doi.org/10.1385/1-59259-048-9:337.

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Akhtar, Kulsum, Ishrat Parveiz Bhat, Syed Sameer Aga, Syed Douhath Yousuf, and Syed Mudassar. "Cytokine Gene Polymorphisms and Their Role in Autoimmune Diseases." In Genetic Polymorphism and Disease. CRC Press, 2022. http://dx.doi.org/10.1201/9781003246244-23.

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Trowsdale, John. "Polymorphism in the HLA-D Region." In Regulation of Immune Gene Expression. Humana Press, 1986. http://dx.doi.org/10.1007/978-1-4612-5014-2_5.

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Mondal, Muhammad Shafiul Alam, and Yearul Kabir. "Host Immune Gene Polymorphism and Cancer." In Handbook of Cancer and Immunology. Springer International Publishing, 2022. http://dx.doi.org/10.1007/978-3-030-80962-1_48-1.

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Ferns, G. A. A., S. C. Shelley, A. Rees, J. Stocks, and D. J. Galton. "An Apoprotein AII Gene Polymorphism and Hyperlipidaemia." In Human Apolipoprotein Mutants. Springer US, 1986. http://dx.doi.org/10.1007/978-1-4615-9474-1_16.

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Conference papers on the topic "Polymorphism of gene"

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Karasev, E. P., E. E. Andronov, E. P. Chizevskaya, and N. A. Provorov. "Comparative analysis of nucleotide polymorphism of chromosomal and symbiotic genes in symbionts of eastern and medical goat’s rue from a population of the North Caucasus." In 2nd International Scientific Conference "Plants and Microbes: the Future of Biotechnology". PLAMIC2020 Organizing committee, 2020. http://dx.doi.org/10.28983/plamic2020.112.

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The analysis of the nucleotide polymorphism in two goatfish rhizobia biovars showed that the diversity of all gene groups corresponds to the diversity of the host plant, and the general polymorphism of chromosomal genes is higher than the symbiotic gene polymorphysm in both biovars.
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Chan, Vivian, V. W. S. Liu, A. C. K. Wong, and T. K. Chan. "DNA POLYMORPHISMS IN OR LINKED TO THE FACTOR VIII GENE IN CHINESE." In XIth International Congress on Thrombosis and Haemostasis. Schattauer GmbH, 1987. http://dx.doi.org/10.1055/s-0038-1644049.

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78 unrelated X chromosomes from Southern Chinese (56 normal and 22 haemophiliac) were studied. DNA was restricted by Bel I, Bgl I or Taq I and hybridized to 3' factor VIII:C cDNA probe (5 kb, Chiron) or St 14.1 probe(3 kb, Oberle &amp;Mandel) by standard techniques. The intragenic Bel I polymorphic site was positive in 82%, while Bgl I polymorphic site was positive in all. Thus, 29.5%(2 x×0.82 × 0.18) of Chinese females carried the Bel I polymorphism. Asto the Taq I polymorphism in the closely linked DXS52 DNA segment, the incidences for the various alleles were :System I - allele (3) 10.2%, (
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Kuzmina, L. P., A. G. Khotuleva, and M. M. Kolyaskina. "GENETIC POLYMORPHISM OF CYTOKINES FOR OCCUPATIONAL BRONCHO OBSTRUCTIVE DISEASES DEVELOPMENT RISK AND PROGNOSIS ASSESSMENT." In The 17th «OCCUPATION and HEALTH» Russian National Congress with International Participation (OHRNC-2023). FSBSI «IRIOH», 2023. http://dx.doi.org/10.31089/978-5-6042929-1-4-2023-1-265-268.

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One of the significant systems in the pathogenesis of lung diseases is the system of cytokines. Genetic polymorphism of cytokines can be associated with different levels of cytokine production when exposed to a stimulus of the same intensity in response to antigenic irritation, or tissue damage, which can determine individual sensitivity to chemicals. The purpose of this study was to evaluate the presence of associations of single nucleotide polymorphisms of cytokine genes with the development and severity of occupational bronchoobstructive diseases, taking into account the specifics of occupa
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Graham, J. B., D. B. Lubahn, J. D. Kirshtein, et al. "THE “MALMO“ EPITOPE OF FACTOR IX: PHENOTYPIC EXPRESSION OF THE “VIKING“ GENE." In XIth International Congress on Thrombosis and Haemostasis. Schattauer GmbH, 1987. http://dx.doi.org/10.1055/s-0038-1643566.

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The epitope of a mouse monoclonal AB (9.9) which detects a Factor IX (F.IX) polymorphism in the plasma of normal persons (PNAS 82:3839, 1985) has been related to not more than 6 AA residues of F.IX by recombinant DNA technology. The same 6 residues define Smith’s polymorphic epitope (Am. J. Human Genet. 37:688, 1985 and in press). This region of F.IX contains the alanine:threonine dimorphism at residue 148 first suggested by McGraw et al. (PNAS 82: 2847, 1985) and established by Winship and Brownlee with synthetic DNA oligomers (Lancet in press). Using synthetic DNA probes, we have found that
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Fabri, Júlia Campos, Maria Julia Filgueiras Granato, Maria Clara Lopes Rezende, Maria Luiza Franco de Oliveira, and Leandro de Souza Cruz. "The impact of genetic polymorphism in pain mechanisms." In XIII Congresso Paulista de Neurologia. Zeppelini Editorial e Comunicação, 2021. http://dx.doi.org/10.5327/1516-3180.708.

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Background:Variations in genes codifying target structures in the nociceptive pathway can result in pain attenuation or increase.Objective:Investigate the genetic polymorphism influence in the individual pain threshold. Methods: Search on PubMed with the terms “genetic”, “pain” and its synonyms published in the last 10 years. Results:The subjective and individual mechanisms of pain aren’t completely understood, but genetic susceptibility is one of the hypothesis to explain these differences.The KCNK18 gene influences the synaptic transmission by producing potassium channel protein that equaliz
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"EVALUATING THE IMPACT OF OMEGA-3 FATTY ACID SUPPLEMENTATION ON LIPID PROFILES IN ADULTS WITH PPARG POLYMORPHISMS." In XI МЕЖДУНАРОДНАЯ КОНФЕРЕНЦИЯ МОЛОДЫХ УЧЕНЫХ: БИОИНФОРМАТИКОВ, БИОТЕХНОЛОГОВ, БИОФИЗИКОВ, ВИРУСОЛОГОВ, МОЛЕКУЛЯРНЫХ БИОЛОГОВ И СПЕЦИАЛИСТОВ ФУНДАМЕНТАЛЬНОЙ МЕДИЦИНЫ. IPC NSU, 2024. https://doi.org/10.25205/978-5-4437-1691-6-94.

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Research shows that PPARG gene polymorphisms influence lipid metabolism and cardiovascular risk, and omega-3 fatty acids modulate these effects. A study of 102 patients (LDL 70–190 mg/dL) assessed the effects of 2000 mg Omega-3 daily for 90 days. In patients with the PPARG polymorphism, the Omega-3 group had a 15.4 % reduction in LDL cholesterol levels compared with 2.6 % in the placebo group (p &lt; 0.01). Triglyceride levels decreased by 21.3 % (p &lt; 0.01).
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KHRABROVA, Lyudmila A., Sergey I. SOROKIN, Nina V. BLOKHINA, and Tatyana V. KALASHNIKOVA. "Myostatin Gene Polymorphism in Local Horse Breeds." In XVIII International Scientific and Practical Conference "Modern Trends in Agricultural Production in the World Economy". Sibac, 2020. http://dx.doi.org/10.32743/kuz.agri.2020.27-33.

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Caetano, Geovanna Cota, Julia Assis Rodrigues, Patrícia Aguiar Bellini, Clécio Ênio Murta de Lucena, Renata Toscano Simões, and Valéria Cristina Sandrim. "EVALUATION OF CYP2D6 POLYMORPHISM IN PATIENTS WITH BREAST CANCER AND TAMOXIFEN USERS OF TWO BREAST SERVICES OF BELO HORIZONTE." In Brazilian Breast Cancer Symposium 2022. Mastology, 2022. http://dx.doi.org/10.29289/259453942022v32s2031.

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Objective: This study aimed to assess the CYP2D6*4 polymorphism and the association of this polymorphism with the evolution of breast cancer since the reduction of the CYP2D6 activity due to polymorphisms of the gene that encodes the enzyme or the use of inhibitory drugs has been linked to reduced levels of endoxifen (EDF) and worse prognosis in women treated with tamoxifen (TAM). The treatment is multidisciplinary; TAM is an established and important therapeutic modality. This drug is metabolized by the CYP2D6 enzyme into its active metabolites, 4-hydroxytamoxifen (HTF), and EDF. Methods: The
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Иргашев, Дильмурад Саатович. "THE PREVALENCE OF THE ILE462VAL POLYMORPHISM OF THE CYP1A1 GENE AMONG MEN WITH INFERTILITY IN THE UZBEK POPULATION." In Psychology, Sports science and Medicine (Психология. Спорт. Здравоохранение): сборник статей международной научной конференции (Санкт-Петербург, Октябрь 2022). Crossref, 2022. http://dx.doi.org/10.37539/221030.2022.50.28.006.

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Существенным фактором, формирования мужского бесплодия с позиций доказательной медицины, являются нарушения в системе генов детоксикации ксенобиотиков. Проведен анализ роли полиморфизма Ile462Val гена CYP1A1 в формировании мужского бесплодия. Полученные результаты исследования косвенно указывают на дисрегуляторное влияние неблагоприятного аллельного варианта данного полиморфизма на экспрессию цитохрома CYP1A1. An essential factor in the formation of male infertility from the standpoint of evidence-based medicine are disorders in the system of xenobiotic detoxification genes. The role of the Il
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Prokhorova, E. E., and R. R. Usmanova. "GENETIC POLYMORPHISM OF SNAILS SUCCINEA PUTRIS (GASTROPODA, PULMONATA)." In V International Scientific Conference CONCEPTUAL AND APPLIED ASPECTS OF INVERTEBRATE SCIENTIFIC RESEARCH AND BIOLOGICAL EDUCATION. Tomsk State University Press, 2020. http://dx.doi.org/10.17223/978-5-94621-931-0-2020-33.

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Genotypic diversity of snails Succinea putris L. (Linnaeus, 1758) collected in the north-west of Russia and in the Republic of Belarus was analysed. Homology between the nucleotide sequences of snails from different population made up 100% by the nucleotide sequence of ITS1-5.8S-ITS2 region of rDNA. Genetic variability based on mitochondrial markers was insignificant. Average genetic distances between samples made up 0,009 for СOI gene loci and 0.008 for CytB gene loci. Was found ten haplotypes of the mitochondrial gene CytB and nine haplotypes of the mitochondrial gene СOI. Perhaps the geneti
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Reports on the topic "Polymorphism of gene"

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Torrungruang, Kitti, Soranun Chantarangsu, and Thanyachai Sura. Association between vitamin D receptor gene polymorphisms and chronic periodontitis in Thais. Chulalongkorn University, 2015. https://doi.org/10.58837/chula.res.2015.18.

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Polymorphisms of the vitamin D receptor (VDR) gene have been implicated in the susceptibility to infections and bone-related diseases. However, their relationship with periodontal disease remains unclear. This cross-sectional study investigated whether the susceptibility to chronic periodontitis in a Thai population is associated with VDR polymorphisms. Genomic DNA was obtained from 1,460 subjects, aged 39-65 years. Genotyping of VDR polymorphisms (FokI, BsmI, ApaI, and TaqI) was performed using real-time polymerase chain reaction. Subjects were categorized into three groups; no/mild, moderate
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ZHENG, Jiansheng, and Tang ZHU. Polymorphism of fucosyltransferase 3 (FUT3) gene is associated with inflammatory bowel disease (IBD) — a systematic review and Meta-analysis. INPLASY - International Platform of Registered Systematic Review and Meta-analysis Protocols, 2022. http://dx.doi.org/10.37766/inplasy2022.3.0001.

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Review question / Objective: Polymorphism of fucosyltransferase 3 (FUT3) gene is associated with inflammatory bowel disease (IBD) — a systematic review and Meta-analysis. Condition being studied: This study collected relevant literatures and analyzed the relationship between the polymorphism of the FUT3 genes at rs3745635, rs3894326, and rs28362459 to the IBD with Meta-analysis, in order to further explore the possible mechanism of the polymorphism of the FUT3 gene and IBD.
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Iyshwarya, B. K., Ilibagiza Regine, and Ramakrishnan Veerabathiran. Association of MTHFR Gene Polymorphism in Diabetic Nephropathy. Peeref, 2022. http://dx.doi.org/10.54985/peeref.2207p7008018.

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Weller, Joel I., Derek M. Bickhart, Micha Ron, Eyal Seroussi, George Liu, and George R. Wiggans. Determination of actual polymorphisms responsible for economic trait variation in dairy cattle. United States Department of Agriculture, 2015. http://dx.doi.org/10.32747/2015.7600017.bard.

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The project’s general objectives were to determine specific polymorphisms at the DNA level responsible for observed quantitative trait loci (QTLs) and to estimate their effects, frequencies, and selection potential in the Holstein dairy cattle breed. The specific objectives were to (1) localize the causative polymorphisms to small chromosomal segments based on analysis of 52 U.S. Holstein bulls each with at least 100 sons with high-reliability genetic evaluations using the a posteriori granddaughter design; (2) sequence the complete genomes of at least 40 of those bulls to 20 coverage; (3) de
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Wongpiyabovorn, Jongkonnee, Nattiya Hirankarn, Yingyos Avihingsanon, Tewin Tencomnao, Yong Poovorawan, and Kriangsak Ruchusatsawat. The association between immunogenetics and genetic susceptibility of psoriasis in Thai population. Chulalongkorn University, 2006. https://doi.org/10.58837/chula.res.2006.27.

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Psoriasis is T-cell-mediated skin autoimmunity, required environmental triggers and genetic susceptibility factors to become manifested. Psoriasis is a chronic skin disease characterized by the abnormal hyperproliferation and differentiation of the epidermis, elongated and prominent blood vessels and a thick perivascular lymphocytic infiltrate. Vascular endothelial growth factor (VEGF) gene play important role in pathogenesis of various diseases with angiogenic basis such as breast cancer and autoimmune disease including psoriasis. Many studies analyzed the association of VEGF gene polymorphis
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Dimitrova, Ivona, Milena Bozhilova-Sakova, Maya Ignatova, and Nikolay Petrov. Polymorphism of FABP3 Gene in Some Merino and Local Sheep Breeds in Bulgaria. "Prof. Marin Drinov" Publishing House of Bulgarian Academy of Sciences, 2020. http://dx.doi.org/10.7546/crabs.2020.05.18.

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Hu, Yinan, Zhen Li, and Yanhong Ren. Association of FAM13A gene polymorphism and interstitial lung disease susceptibility: A meta-analysis. INPLASY - International Platform of Registered Systematic Review and Meta-analysis Protocols, 2023. http://dx.doi.org/10.37766/inplasy2023.2.0122.

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Xu, Sen, Jielei Zhou та Yunzhu Zhang. Quantitative assessment of the association between TNF-α gene polymorphism and angina risk. INPLASY - International Platform of Registered Systematic Review and Meta-analysis Protocols, 2024. http://dx.doi.org/10.37766/inplasy2024.7.0120.

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Li, Qian, Menglu Chen, Wen Li, Yihui Chai, Liancheng Guan, and Yunzhi Chen. Association of vitamin D receptor gene polymorphism with the risk of sepsis: a meta-analysis. INPLASY - International Platform of Registered Systematic Review and Meta-analysis Protocols, 2023. http://dx.doi.org/10.37766/inplasy2023.4.0045.

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Kadiyska, Tanya, Maria Glushkova, and Lyudmil Lazarov. Role of the PPARG Gene Polymorphism RS1801282 in Bulgarian Obese Adults in the Development of Prediabetes. "Prof. Marin Drinov" Publishing House of Bulgarian Academy of Sciences, 2018. http://dx.doi.org/10.7546/crabs.2018.11.14.

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