全基因组初步筛查发现印度人群中与冠状动脉疾病相关的新变异。
Preliminary genome wide screening identifies new variants associated with coronary artery disease in Indian population.
作者信息
Bhat Keshavamurthy Ganapathy, Guleria Vivek Singh, J Ratheesh Kumar, Rastogi Garima, Sharma Varun, Sharma Anuka
机构信息
Department of Cardiology, Army Hospital (R&R) New Delhi-110010, India.
NMC Genetics India Pvt. Ltd. Gurugram 122001, Haryana, India.
出版信息
Am J Transl Res. 2022 Jul 15;14(7):5124-5131. eCollection 2022.
AIM
Coronary artery disease (CAD) is a major health problem in developed and developing nations. Development of CAD involves a complex interaction between genetics and lifestyle factors. Individuals with high-risk genetic predisposition along with poor lifestyle are more inclined to the development of CAD. Advancement in genotyping technologies and increase in genome wide studies has provided a platform to identify new risk factors associated with CAD and associated complexities.
METHODOLOGY
In this study we performed genome wide screening in 76 well-defined CAD cases and 77 control samples in Indian population. Interestingly, new variants are identified in three genes , VLDLR, IFITM2 and C2CD4C.
RESULTS
The odds ratios observed for variant rs1869592 (), rs1059091 () and rs7247159 () were 2.6 (1.4-4.8 95% CI), 1.9 (95% CI 1.2-3.1) and 2.1 (1.2-3.7 95% CI), respectively with significant value <0.01. These variants that are associated with pathogenesis of CAD were not previously reported in literature. Moreover, we anticipate that these variants will be further validated using a larger sample size.
目的
冠状动脉疾病（CAD）在发达国家和发展中国家都是一个主要的健康问题。CAD的发展涉及遗传因素和生活方式因素之间的复杂相互作用。具有高风险遗传易感性且生活方式不良的个体更易患CAD。基因分型技术的进步和全基因组研究的增加为识别与CAD及其相关复杂性相关的新风险因素提供了一个平台。
方法
在本研究中，我们对印度人群中的76例明确诊断的CAD病例和77例对照样本进行了全基因组筛查。有趣的是，在三个基因VLDLR、IFITM2和C2CD4C中发现了新的变异。
结果
观察到变异rs1869592（）、rs1059091（）和rs7247159（）的优势比分别为2.6（1.4 - 4.8，95%置信区间）、1.9（95%置信区间1.2 - 3.1）和2.1（1.2 - 3.7，95%置信区间），显著p值<0.01。这些与CAD发病机制相关的变异此前在文献中未被报道。此外，我们预计这些变异将使用更大的样本量进一步验证。
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