Objectives: The pregnancy-associated plasma protein-A (PAPP-A), belonging to the metalloproteinase superfamily, plays an important role in destabilization of atherosclerotic plaques. The aim of this study is to evaluate whether PAPP-A gene polymorphism is associated with the risk of ischemic stroke (IS) in northern Chinese Han populations.

Methods: A total of 368 patients with IS and 374 aged-matched healthy controls in a Chinese Han population were included in the case-control study. The single-nucleotide polymorphism (SNP) IVS6+95 (rs13290387) in the PAPP-A gene was analyzed by the polymerase chain reaction-ligation detection reaction (PCR-LDR) method.

Results: Compared with the GG+CG genotype, the frequencies of the CC genotype of IVS6+95 (rs13290387) in the patients with IS were significantly higher than those in the controls (P = 0·026). After adjusting the confounding risk factors of IS (age, gender, smoking, alcohol drinking, hypertension, diabetes mellitus, and hyperlipidemia) by the multivariate logistic analysis, this significant correlation still remained (P = 0·010).

Discussion: The CC genotype of IVS6+95 (rs13290387) was associated with increased incidence of IS in northern Chinese Han populations. This is an initial study to indicate that PAPP-A (rs13290387) might contribute to IS susceptibility in northern Chinese Han populations.

Keywords: Genetic polymorphism,; Ischemic stroke,; Pregnancy-associated plasma protein-A.