Polymorphisms of ECE1 may contribute to susceptibility to ischemic stroke in Han Chinese of Northern China.

Endothelin (ET) converting enzyme 1 (ECE1) is well known for its critical role in the process of ET. Recent studies have demonstrated that two genetic variants of ECE1 gene, rs212528 and rs213045 (C338A), are associated with hypertension and atherosclerosis formation. To investigate the association between the ECE1 gene polymorphisms and ischemic stroke (IS) in Chinese population. With a candidate loci strategy, we conducted a case-control study involving 381 IS cases and 366 non-IS controls in Han population of the Northern China. Two single nucleotide polymorphisms of ECE1 were genotyped and assessed the association with the risk of IS. Furthermore, stratified analyses were also carried out to evaluate the association between the gender or two etiologic subtypes [small-artery occlusion (SAO) and large-artery atherosclerosis (LAA)] and IS. Compared with rs213045 G homozygote, rs213045 TG genotype and rs213045 TT/TG genotypes are in dominant model significantly increased the risk of IS [adjusted odds ratio (OR) = 1.47, 95 % confidence interval (CI) = 1.04-2.07, P = 0.03; adjusted OR = 1.43, 95 % CI = 1.04-1.99, P = 0.029, respectively]. However, we did not find the significant association between the ECE1 gene polymorphisms and SAO or LAA of IS in this study. Our results indicated that ECE1 gene polymorphisms may contribute to the susceptibility of IS in Han population of the Northern China.