Association between NINJ2 gene polymorphisms and ischemic stroke: a family-based case–control study

The Author(s) 2014. This article is published with open access at Springerlink.com Abstract Novel susceptibility genes related to ischemic stroke (IS) are proposed in recent literatures. Population-based replicate studies would cause false positive results due to population stratification. 229 recruit IS patients and their 229 non-IS siblings were used in this study to avoid population stratification. The family-based study was conducted in Beijing from June 2005 to June 2012. Asso-ciation between SNPs and IS was found in the sibship discordant tests, and the conditional logistic regression was performed to identify effect size and explore gene–envi-ronment interactions. Significant allelic association was identified between NINJ2 gene rs11833579 (P = 0.008), protein kinase C g gene rs2230501 (P = 0.039) and IS. The AA genotype of rs11833579 increased 1.51-fold risk (95 % CI 1.04–3.46; P = 0.043) of IS, and it conferred susceptibility to IS only in a dominant model (OR 2.69; 95 % CI 1.06–6.78; P = 0.036]. Risk of IS was higher (HR 3.58; 95 % CI 1.54–8.31; P = 0.003) especially when the carriers of rs11833579 AA genotype were smokers. The present study suggests A allele of rs11833579 may play a role in mediating susceptibility to IS and it may increase the risk of IS together with smoking