Nima Nikbin Kavishahi , Seyed Mostafa Shiryazdi , Farimah Shamsi , Ali Dadbinpour , Mahta Mazaheri
{"title":"伊朗人群中 TERT 基因多态性（rs2736100 和 rs2736109）与乳腺癌风险之间的关系：病例对照研究","authors":"Nima Nikbin Kavishahi , Seyed Mostafa Shiryazdi , Farimah Shamsi , Ali Dadbinpour , Mahta Mazaheri","doi":"10.1016/j.genrep.2024.102088","DOIUrl":null,"url":null,"abstract":"<div><h3>Background</h3><div>The level of hormones and genetic predispositions increase the risk of breast cancer. Genetic variations in the genes of the telomere pathway, which can influence the activity of telomerase, may be decisive for the development of breast cancer. Due to a lack of studies on <em>TERT</em> gene polymorphisms (rs2736100 and rs2736109) in the Iranian population, in this study we investigated the association of these polymorphisms with breast cancer in the Iranian population.</div></div><div><h3>Patients & methods</h3><div>A total of 300 individuals participated in this research, which included 150 breast cancer patients and 150 healthy controls. Participants' blood samples were collected before the beginning of treatment. The RFLP-PCR procedure was used for the genotyping of <em>TERT</em> gene rs2736109 and rs2736100 polymorphisms.</div></div><div><h3>Results</h3><div>There are statistically significant differences in the age of menarche and the age of menopause (<em>P</em>-value <0.05). For rs2736100, the frequency of TT genotype in the case and control groups was 22.7 % and 16.7 %, respectively. However, these differences were not statistically significant (<em>P</em>-value >0.05). For rs2736109, the frequency of the AA genotype was lower in the case group (12.0 % vs. 19.3 %). These differences reach a statistically significant level (P-value = 0.012). Individuals carrying AA genotype have a lower risk of suffering from breast cancer (odds ratio = 0.403, 95 % CI: 0.196–0.827).</div></div><div><h3>Conclusion</h3><div>Our findings suggest that the rs27326109 polymorphism in the TERT gene is associated with a decreased risk of breast cancer. Also this study reveals that age of menarche and age of menopause are associated with risk of this disease.</div></div>","PeriodicalId":12673,"journal":{"name":"Gene Reports","volume":"37 ","pages":"Article 102088"},"PeriodicalIF":1.0000,"publicationDate":"2024-11-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Association between TERT gene polymorphisms (rs2736100 and rs2736109) and breast cancer risk in the Iranian population: A case-control study\",\"authors\":\"Nima Nikbin Kavishahi , Seyed Mostafa Shiryazdi , Farimah Shamsi , Ali Dadbinpour , Mahta Mazaheri\",\"doi\":\"10.1016/j.genrep.2024.102088\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<div><h3>Background</h3><div>The level of hormones and genetic predispositions increase the risk of breast cancer. Genetic variations in the genes of the telomere pathway, which can influence the activity of telomerase, may be decisive for the development of breast cancer. Due to a lack of studies on <em>TERT</em> gene polymorphisms (rs2736100 and rs2736109) in the Iranian population, in this study we investigated the association of these polymorphisms with breast cancer in the Iranian population.</div></div><div><h3>Patients & methods</h3><div>A total of 300 individuals participated in this research, which included 150 breast cancer patients and 150 healthy controls. Participants' blood samples were collected before the beginning of treatment. The RFLP-PCR procedure was used for the genotyping of <em>TERT</em> gene rs2736109 and rs2736100 polymorphisms.</div></div><div><h3>Results</h3><div>There are statistically significant differences in the age of menarche and the age of menopause (<em>P</em>-value <0.05). For rs2736100, the frequency of TT genotype in the case and control groups was 22.7 % and 16.7 %, respectively. However, these differences were not statistically significant (<em>P</em>-value >0.05). For rs2736109, the frequency of the AA genotype was lower in the case group (12.0 % vs. 19.3 %). These differences reach a statistically significant level (P-value = 0.012). Individuals carrying AA genotype have a lower risk of suffering from breast cancer (odds ratio = 0.403, 95 % CI: 0.196–0.827).</div></div><div><h3>Conclusion</h3><div>Our findings suggest that the rs27326109 polymorphism in the TERT gene is associated with a decreased risk of breast cancer. Also this study reveals that age of menarche and age of menopause are associated with risk of this disease.</div></div>\",\"PeriodicalId\":12673,\"journal\":{\"name\":\"Gene Reports\",\"volume\":\"37 \",\"pages\":\"Article 102088\"},\"PeriodicalIF\":1.0000,\"publicationDate\":\"2024-11-15\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Gene Reports\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://www.sciencedirect.com/science/article/pii/S2452014424002115\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q4\",\"JCRName\":\"GENETICS & HEREDITY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Gene Reports","FirstCategoryId":"1085","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S2452014424002115","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"GENETICS & HEREDITY","Score":null,"Total":0}
Association between TERT gene polymorphisms (rs2736100 and rs2736109) and breast cancer risk in the Iranian population: A case-control study
Background
The level of hormones and genetic predispositions increase the risk of breast cancer. Genetic variations in the genes of the telomere pathway, which can influence the activity of telomerase, may be decisive for the development of breast cancer. Due to a lack of studies on TERT gene polymorphisms (rs2736100 and rs2736109) in the Iranian population, in this study we investigated the association of these polymorphisms with breast cancer in the Iranian population.
Patients & methods
A total of 300 individuals participated in this research, which included 150 breast cancer patients and 150 healthy controls. Participants' blood samples were collected before the beginning of treatment. The RFLP-PCR procedure was used for the genotyping of TERT gene rs2736109 and rs2736100 polymorphisms.
Results
There are statistically significant differences in the age of menarche and the age of menopause (P-value <0.05). For rs2736100, the frequency of TT genotype in the case and control groups was 22.7 % and 16.7 %, respectively. However, these differences were not statistically significant (P-value >0.05). For rs2736109, the frequency of the AA genotype was lower in the case group (12.0 % vs. 19.3 %). These differences reach a statistically significant level (P-value = 0.012). Individuals carrying AA genotype have a lower risk of suffering from breast cancer (odds ratio = 0.403, 95 % CI: 0.196–0.827).
Conclusion
Our findings suggest that the rs27326109 polymorphism in the TERT gene is associated with a decreased risk of breast cancer. Also this study reveals that age of menarche and age of menopause are associated with risk of this disease.
Gene ReportsBiochemistry, Genetics and Molecular Biology-Genetics
CiteScore
3.30
自引率
7.70%
发文量
246
审稿时长
49 days
期刊介绍：
Gene Reports publishes papers that focus on the regulation, expression, function and evolution of genes in all biological contexts, including all prokaryotic and eukaryotic organisms, as well as viruses. Gene Reports strives to be a very diverse journal and topics in all fields will be considered for publication. Although not limited to the following, some general topics include: DNA Organization, Replication & Evolution -Focus on genomic DNA (chromosomal organization, comparative genomics, DNA replication, DNA repair, mobile DNA, mitochondrial DNA, chloroplast DNA). Expression & Function - Focus on functional RNAs (microRNAs, tRNAs, rRNAs, mRNA splicing, alternative polyadenylation) Regulation - Focus on processes that mediate gene-read out (epigenetics, chromatin, histone code, transcription, translation, protein degradation). Cell Signaling - Focus on mechanisms that control information flow into the nucleus to control gene expression (kinase and phosphatase pathways controlled by extra-cellular ligands, Wnt, Notch, TGFbeta/BMPs, FGFs, IGFs etc.) Profiling of gene expression and genetic variation - Focus on high throughput approaches (e.g., DeepSeq, ChIP-Seq, Affymetrix microarrays, proteomics) that define gene regulatory circuitry, molecular pathways and protein/protein networks. Genetics - Focus on development in model organisms (e.g., mouse, frog, fruit fly, worm), human genetic variation, population genetics, as well as agricultural and veterinary genetics. Molecular Pathology & Regenerative Medicine - Focus on the deregulation of molecular processes in human diseases and mechanisms supporting regeneration of tissues through pluripotent or multipotent stem cells.
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