LncRNA MALAT1 gene polymorphisms in coronary artery disease: a case–control study in a Chinese population

Background: Coronary artery disease (CAD) is one of the main fatal diseases all over the world. CAD is a complex disease, which has multiple risk factors mechanisms. In recent years, genome-wide association study (GWAS) had revealed single nucleotide polymorphism genes (SNPs) which were closely related with CAD risks. The relationship between long non-coding RNA (lncRNA) MALAT1 (metastasis-associated lung adenocarcinoma transcript 1) and CAD risk is largely unknown. To our knowledge, this is the first study which demonstrated the interaction effects of SNP–SNP and SNP–environment with CAD risk. In general, our case–control study is to detect the association between MALAT1 (rs619586, rs4102217) SNPs and CAD risk. Methods: Three hundred and sixty-five CAD patients and three hundred and eighty-four matched control participants blood samples were collected in Liaoning province, China. Two polymorphisms (rs619586, rs4102217) in lncRNA MALAT1 were genotyped by KASP platform. Results: In a stratified analysis, we found that non-drinkers with GC genotype and the recessive model of rs4102217 had higher CAD risk (P=0.010, odds ratio (OR): 1.96, 95% confidence interval (CI) = 1.17–3.28; P=0.026, OR: 1.73, 95% CI = 1.07–2.79) and diabetes mellitus (DM) history group (P=0.010, OR: 4.07, 95% CI = 1.41–11.81; P=0.019, OR: 3.29, 95% CI = 1.22–8.88). In SNP–SNP interactions analysis between MALAT1 and CAD risk, we found rs4102217 had an increase in smokers (GG: OR: 2.04, 95% CI = 1.42–2.92; CC+GC: OR: 2.64, 95% CI = 1.64–4.26) and a decrease in drinkers (CC+GC: OR: 0.33, 95% CI = 0.20–0.55). Smokers with MALAT1 rs619586 AA genotype (OR: 2.20, 95% CI = 1.57–3.07) and GG+AG genotype (OR: 2.11, 95% CI = 1.17–3.81) had a higher risk of CAD. Moreover, drinkers with AA genotype (OR: 0.22, 95% CI = 0.10–0.48) and GG+AG genotype (OR: 0.38, 95% CI = 0.22–0.65) had a lower risk of CAD. According to the MDR software, MALAT1 rs4102217 polymorphism-smoking-drinking was the best interaction model, which has higher risk of CAD (Testing Bal.ACC. = 0.6979). Conclusion: Our study demonstrated that the GC genotype and the recessive model of rs4102217 potentially increased CAD risk in some specific group.