与家族性乳腺癌相关的 和 基因多态性在巴基斯坦开伯尔-普赫图赫瓦省患者中的研究。
Association of and genes polymorphisms with familial breast cancer in patients of Khyber Pakhtunkhwa, Pakistan.
机构信息
Department of Pharmacy University of Peshawar, Pakistan.
Department of Pharmacy Abasyn University, Peshawar, Pakistan.
出版信息
Afr Health Sci. 2022 Sep;22(3):145-154. doi: 10.4314/ahs.v22i3.17.
BACKGROUND
Genetic studies play a significant role in understanding the underlying risk factors of breast cancer. Polymorphism in the tumor suppressor gene TP 53, CDH1 and ATM genes are found to increase susceptibility for breast cancer globally.
OBJECTIVE
This study aimed to identify/analyze the contribution of genetic polymorphisms in the breast cancer candidate genes ATM, TP53 and CDH1 that may be associated with familial breast cancer risk in the Khyber Pakhtunkhwa population.
SUBJECTS AND METHODS
In the present case-control study, Whole Exome Sequencing (WES) of the 100 breast cancer patients and 100 ethnic controls were performed for the selected genes in the target population.
RESULTS
Of the studied variants rs3743674 of the CDH1 gene (crude P=0.014 and adjusted p=0.000) evident significant association with breast cancer in Pakistani Pashtun population. Whereas TP53rs1042522 (crude P=0.251 and adjusted P=0.851) and ATM rs659243 (crude p=0.256 and adjusted p=0.975) showed no or negative association with breast cancer in study population.
CONCLUSION
The present study demonstrates that CDH1rs3743674 polymorphism is associated with elevated breast cancer risk in the Pashtun ethic population of Khyber Pakhtunkhwa.
背景
遗传研究在理解乳腺癌的潜在风险因素方面起着重要作用。肿瘤抑制基因 TP53、CDH1 和 ATM 基因的多态性被发现会增加全球乳腺癌的易感性。
目的
本研究旨在确定/分析候选基因 ATM、TP53 和 CDH1 中的遗传多态性对开伯尔-普赫图赫瓦人群中家族性乳腺癌风险的贡献。
受试者和方法
在本病例对照研究中，对目标人群中选定基因的 100 名乳腺癌患者和 100 名种族对照进行了全外显子组测序（WES）。
结果
研究中发现 CDH1 基因的 rs3743674 变体（粗 P=0.014，调整后 p=0.000）与巴基斯坦普什图族人群的乳腺癌明显相关。而 TP53rs1042522（粗 P=0.251，调整后 P=0.851）和 ATM rs659243（粗 p=0.256，调整后 p=0.975）在研究人群中与乳腺癌无关联或负相关。
结论
本研究表明，CDH1rs3743674 多态性与开伯尔-普赫图赫瓦普什图族人群乳腺癌风险升高有关。
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