Long Noncoding RNAs MALAT1 and ANRIL Gene Variants and the Risk of Cerebral Ischemic Stroke: An Association Study

Cerebral ischemic stroke (CIS) is one of the primary causes of death worldwide and a major cause of long-term disability. Long noncoding RNAs (lncRNAs) have emerged as crucial mediators in the pathology of CIS; however, their potential importance is yet to be discovered. Herein, we examined the association of four single-nucleotide polymorphisms (SNPs) with the risk of CIS, their correlation with the lncRNAs, MALAT1 and ANRIL, expression, and the potential of serum MALAT1 and ANRIL as biomarkers for CIS. A total of 100 CIS patients and 100 healthy controls were recruited in the study. Genotyping and expression analysis of MALAT1 and ANRIL SNPs were carried out by qPCR. The present results showed that serum MALAT1 was downregulated, while serum ANRIL was overexpressed in CIS patients, relative to controls. MALAT1 downregulation discriminated CIS patients from controls by receiver-operating-characteristic analysis. Moreover, serum ANRIL denoted good diagnostic accuracy. MALAT1 rs619586 AA and rs3200401 CT, TT were associated with increased CIS risk, whereas ANRIL rs10965215 GG was found to be protective. The studied ANRIL rs10738605 polymorphism was not associated with CIS susceptibility. Notably, the G variant of MALAT1 rs619586 demonstrated a higher serum MALAT1 expression level. Multivariate logistic regression analysis revealed serum MALAT1 as well as MALAT1 rs3200401 CT + TT as independent predictors of CIS. Additionally, a negative association was found between the serum MALAT1 level and the National Institutes of Health Stroke Scale score. In conclusion, MALAT1 rs619586 and rs3200401 and ANRIL rs10965215 are novel prospective noninvasive diagnostic biomarkers for CIS predisposition.

Automated summary

The study found that MALAT1 rs619586 and rs3200401, as well as ANRIL rs10965215, may serve as novel prospective noninvasive diagnostic biomarkers for predisposition to CIS.