Association of PI3K-Akt Pathway-Related Gene Polymorphisms with Symptomatic Intracranial Atherosclerotic Stenosis with Hypertension in a Chinese Han Population

Background PI3K-Akt signaling was proved to be closely related to atherosclerosis, in which hypertension is an important risk factor for atherosclerosis. Studies have shown that genetic susceptibility is vital in the etiology of symptomatic intracranial atherosclerotic stenosis (sICAS), but few candidate genes were identified. This research explores latent connections between single nucleotide polymorphisms (SNPs) of PI3K-Akt related genes and sICAS with hypertension in Han Chinese subjects. Methods Eight genes related to the PI3K-Akt pathway in 400 sICAS patients and 1007 healthy controls of Han nationality were sequenced, and further subgroup analysis based on hypertension was carried out. Chi-squared testing and multiple logistic regression in dominant, recessive, and additive models were used to evaluate the association between SNPs and risk of sICAS with hypertension. When linkage disequilibrium exists in different loci of the same gene, tagSNP represents the SNP in haplotype block. Results There were 4 common variants of 1 candidate gene differently distributed between sICAS with or without hypertension. Among these four common variations, INSR rs3745551 was significantly related to the risk of sICAS with hypertension after multiple regression analysis, with the T allele being more prevalent in the sICAS with hypertension. Conclusion The variant of the INSR rs3745551 loci may be crucial in the pathogenesis of sICAS with hypertension in Chinese Han populations. Furthermore, the C allele at this locus may be a potentially harmful variant in sICAS with hypertension.