Multi analytical approach to find out the risk factors in terms of single nucleotide polymorphisms in patients with coronary artery disease in Indian Asian Population

Background Researches have revealed a connection between CAD (coronary artery disease) and genetics, with various biochemical tests established to evaluate its severity. The incorporation of bioinformatics has advanced biomedical research and improved data management efficiency. The current study's objective was to identify risk factors in terms of Single Nucleotide Polymorphisms, associated with CAD in an Indian Asian population, utilizing a combined approach Methods The present study was completed in two phases: First phase was a literature search for susceptible SNPs and Second comprised of a cross sectional study. In first phase, using bioinformatic techniques like PubMed parser and Natural Language Processing (NLP) and manual search, we tried to find out susceptible polymorphisms to CAD. In second step, Global Screening Array (GSA) (Illumina) was performed in extracted DNA samples of 97cases and 36 controls. Different biochemical tests like Hemogram, Lipids, Fasting Blood Sugar (FBS), LFT, KFT, Vitamin D and HbA1C were also done as per standard protocol. Results In literature search from 134 studies conducted across several continents and various populations with more a million cases and controls, we could retrieve a comprehensive dataset of 261 susceptible SNPs with pooled Odd’s ratio of 1.196. On observing 261susceptible SNPs in our GSA results, we could find 5 SNPs with significant p value including rs187238 of IL-18 gene at chromosome 11, rs731236 and rs2228570 of VDR gene at chromosome 12, rs11556218 of gene IL16 at chromosome 15 and rs5882 of CETP gene at chromosome 16. The earlier studies had reported association of these with several disease conditions and for CAD, pathways related to endothelial damage, susceptibility of vitamin D receptor (VDR) polymorphisms and lowering HDL-cholesterol and ultimately causing CAD. But among Indian population, all only rs5882 has been studied in CAD cases and that too has not shown any association. The polymorphisms regarding VDR gene are also novel in Indian population, further biochemical co-relation done in both cases and controls revealed more percentage of Vitamin D deficient in healthy controls. Conclusion To conclude, a set of 261 susceptible SNPs for CAD was gathered and out of which association of 5 SNPs in the Indian Asian population was observed. Further, this pool can be validated in different ethnic groups and may provide a valuable screening tool to separate the vulnerable high-risk population where primary prevention strategies can be implemented. We could find, the Vitamin D deficiency may be key reason for developing the disease and further, an alarming condition for seemingly healthy population.