Background Coronary artery disease (CAD) is emerging as a major health problem in India. It is predicted that by 2020, India will be at the verge of CAD epidemic. A low level of high-density lipoproteins (HDL) is prevalent in Asian Indians and is the major lipid risk factor for CAD. HDL contains Apo A, E, C and antioxidant enzymes. The genetic variants of these proteins appear to influence the occurrence and frequency of CAD. In this context APO A4 have drawn much attention. The polymorphisms at Thr347Ser and Gln360His of the apo A4 gene are under investigation in different parts of the world in relation to dyslipidemias, diabetes and CAD. Since data are conflicting and no conclusive data is available from India. Objective We aimed at studying the relationship between apoA4 gene polymorphisms (Thr347Ser and Gln360His) and coronary artery disease in northern Indian participants. Method We recruited 200 control (Group-I) and 200 patients (Group-II) and used PCR-RFLP to study the gene polymorphisms. Enzymatic Kits were used to estimate the lipids and lipoproteins. Result We observed not any significant association for ApoA4 Thr347Ser polymorphism as well as lipid profile [total cholesterol (TC), triglyceride (TG), HDL, low-density lipoproteins (LDL) and HDL/LDL] levels among AA, AT and TT Individuals in controls and patients. However, after adjusting for age and sex, among control AA genotype had significantly lower levels of oxidised LDL (OXLDL) as compared to AT genotype and in patients, levels of OXLDL in AT genotype was lower than with AA genotype and for ApoA4 Gln360His polymorphism, after adjusting for age and sex, and no significant difference was observed in TC, TG, HDL, LDL and HDL/LDL, OXLDL and LDL / OXLDL levels among 1–1, and 1–2. Individuals in controls and patients. Conclusion To accomplish, this preliminary study brought the information on the ApoA4 polymorphism in the Asian Indians residing in Delhi and adjacent areas. The minor alleles of the Ser347 and His360 showed significant association with lipid risk factors like high levels of OXLDL, TC, and low HDL levels. However neither of these polymorphisms showed an association with CAD.
Kumar, P., Choudhary, A. K., & Das, N. (2018). An association between apo-A4 gene polymorphism (Thr347Ser and Gln360His) and coronary artery disease in northern India. Egyptian Journal of Medical Human Genetics, 19(1), 23–29. https://doi.org/10.1016/j.ejmhg.2017.07.001