Association of MTMR3 rs12537 at miR-181a Binding Site with Ischemic Stroke in Southern Chinese Han Population

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Background: Single nucleotide polymorphisms (SNPs) at microRNA (miRNA)--binding sites influence the development of ischemic stroke (IS) by affecting the expression of specific target genes. Myotubularin-related protein 3 (MTMR3), which is involved in autophagy, is directly targeted by miR-181a. This research examined the potential association between the SNP rs12537 in the miRNA-181a binding location within the 3′ untranslated region (3′-UTR) of MTMR3 and the incidence and prognosis of IS. Methods: An improved multitemperature ligase detection reaction assay was used to perform genotyping analysis in two independent case-control datasets consisting of 1128 subjects with IS and 1140 healthy controls with matched ages. Results: The distribution frequencies of the T allele ( p = 5.2× 10 − 4 ) of SNP rs12537 in MTMR3 were elevated significantly in IS patients as compared to healthy controls. Further categorization based on IS subtypes revealed that individuals carrying the variation T allele were linked with a higher risk of suffering large-artery ( p = 1.2× 10 − 3 ) and small-artery ( p = 7.0× 10 − 4 ) atherosclerotic stroke subtypes. The T allele of rs12537 was shown to be linked to both moderate and severe stroke (NIHSS ≥ 6) ( p = 0.011), as well as a poor short-term outcome ( p = 0.016) of IS. A significant correlation was also found between the rs12537 T allele mutation and a decrease in MTMR3 ( p = 0.019), as well as an elevated miR-181a ( p = 0.021) and LC3B ( p = 0.026) in individuals with IS. Conclusion: This study identified a novel role for the rs12537 variant in influencing IS susceptibility and prognosis, potentially by modulating MTMR3 expression and leading to increased autophagy. Keywords: ischemic stroke, MTMR3, polymorphism, risk, prognosis

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