and Polymorphisms are Associated with Ischemic Stroke Susceptibility and Post-Stroke Mortality.

Ischemic stroke is a complicated disease which is affected by environmental factors and genetic factors. In this field, various studies using whole-exome sequencing (WES) have focused on novel and linkage variants in diverse diseases. Thus, we have investigated the various novel variants, which focused on their linkages to each other, in ischemic stroke. Specifically, we analyzed the N-methylpurine DNA glycosylase () gene, which plays an initiating role in DNA repair, and the nitrogen permease regulator-like 3 () gene, which is involved in regulating the mammalian target of rapamycin pathway. We took blood samples of 519 ischemic stroke patients and 417 controls. Genetic polymorphisms were detected by polymerase chain reaction (PCR), real-time PCR, and restriction fragment length polymorphism (RFLP) analysis. We found that two polymorphisms (rs2541618 C>T and rs75187722 G>A), as well as the rs2562162 C>T polymorphism, were significantly associated with ischemic stroke. In Cox proportional hazard regression models, the rs2562162 was associated with the survival of small-vessel disease patients in ischemic stroke. Our study showed that and polymorphisms are associated with ischemic stroke prevalence and ischemic stroke survival. Taken together, these findings suggest that and genotypes may be useful clinical biomarkers for ischemic stroke development and prognosis.