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

IF 1 Q4 GENETICS & HEREDITY

Gene Reports Pub Date : 2024-11-15 DOI:10.1016/j.genrep.2024.102088

Nima Nikbin Kavishahi , Seyed Mostafa Shiryazdi , Farimah Shamsi , Ali Dadbinpour , Mahta Mazaheri

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引用次数: 0

摘要

背景激素水平和遗传倾向会增加罹患乳腺癌的风险。端粒通路基因的遗传变异会影响端粒酶的活性，可能对乳腺癌的发生起决定性作用。由于缺乏对伊朗人群中 TERT 基因多态性（rs2736100 和 rs2736109）的研究，我们在本研究中调查了这些多态性与伊朗人群中乳腺癌的关系。参与者的血样在治疗开始前采集。采用 RFLP-PCR 程序对 TERT 基因 rs2736109 和 rs2736100 多态性进行基因分型。结果月经初潮年龄和绝经年龄差异有统计学意义（P 值为 0.05）。在 rs2736100 基因型中，病例组和对照组的 TT 基因型频率分别为 22.7% 和 16.7%。然而，这些差异在统计学上并不显著（P-value >0.05）。就 rs2736109 而言，病例组中 AA 基因型的频率较低（12.0% 对 19.3%）。这些差异具有统计学意义（P 值 = 0.012）。我们的研究结果表明，TERT 基因中的 rs27326109 多态性与乳腺癌风险的降低有关。这项研究还发现，初潮年龄和绝经年龄与罹患乳腺癌的风险有关。

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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.

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来源期刊

Gene Reports Biochemistry, 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.