Association of MicroRNA Biogenesis Genes Polymorphisms with Risk of Large Artery Atherosclerosis Stroke

Abstract Compelling Convincing evidence has shown that microRNAs (miRNAs) are involved in the pathogenesis of stroke. This study aimed to examine whether miRNA biogenesis genes polymorphisms are associated with risk of large artery atherosclerosis (LAA) stroke. Three polymorphisms (DROSHA rs10719 T > C, RAN rs3803012 A > G, and PIWIL1 rs10773771 C > T) were screened by certain criterion. A total of 1785 (710 cases and 1075 controls) study subjects were included in this study. We found that rs10773771 CC genotype was associated with a decreased risk of LAA stroke (CC vs. TT/CT: OR = 0.63, 95% CI = 0.46–0.86, P = 3×10− 3). In silico analysis suggested that rs10773771 can change the mRNA secondary structure of PIWIL1 and affect the binding of the miRNAs and regulatory motifs to the 3'-UTR of PIWIL1. Expression quantitative trait loci analysis showed that rs10773771 could change the expression of PIWIL1 in human skin (P = 1.534×10− 10) and thyroid tissues (P = 4.869×10− 6). These findings suggested that PIWIL1 rs10773771 may be associated with a decreased risk of LAA stroke.