A genetic variant in the promoter of lncRNA MALAT1 is related to susceptibility of ischemic stroke

Abstract Metastasis-associated lung adenocarcinoma transcript-1 (MALAT1) was aberrantly expressed in diverse diseases including ischemic stroke (IS). This study aimed to investigate the association between MALAT1 polymorphism and IS risk. We performed the genotyping of rs600231, rs1194338, rs4102217 and rs591291 in the promoter of MALAT1 by SNPscan method. Quantitative PCR was used to determine the levels of MALAT1 relative expression. We found the rs1194338 C>A variant in MALAT1 promoter was associated with IS risk (AC vs. CC: adjusted OR = 0.623, 95% CI, 0.417-0.932, P = 0.021; AA vs. CC: adjusted OR = 0.474, 95% CI, 0.226-0.991, P = 0.047; AC/AA vs. CC: adjusted OR = 0.596, 95% CI, 0.406-0.874, P = 0.008; A vs. C adjusted OR = 0.658, 95% CI, 0.487-0.890, P = 0.007). The IS patients showed higher expression levels of MALAT1 compared with the control group ( P 0.05). In addition, no significant differences were observed in blood lipid levels among SNPs of MALAT1 ( P > 0.05). These results suggest that the rs1194338 AC/AA genotypes may be a protective factor for IS, which mechanism needs to be further explored.