Association Analysis Between Two Polymorphisms On Chromosome 12p13 And Cerebral Infarction

Objective To investigate the genetic characteristics of two polymorphisms (rs12425791 G>A and rs11833579 G>A) on chromosome 12p13, and to examine the association of these SNPs with cerebral infarction and its subtypes in the Fujian Han population. Method We carried out a case-control association study using a total of 216 cases and 279 controls. The genotypes of two polymorphisms were evaluated by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and direct DNA sequencing analysis based approach followed by association analysis. Result Distributions of the two polymorphisms in cerebral infarction or control groups were respectively in agreement with Hardy-Weinberg equilibrium, indicating that no apparent bias was observed in the populations. The minor allele frequencies (MAF) of rs12425791 and rs11833579 were respectively 25.6% and 36.4%, which is significantly different from other populations (P<0.05). The frequencies of GA genotypes of rs12425791 in patients were lower than that in the controls (34.3% vs 43.4%, P<0.05), after stratified by causes of cerebral infarction, there is no significant difference between large-artery atherosclerosis and controls (33.9% vs 43.4%, P>0.05). Association analysis was carried out by logistic regression model after adjustment by sex, age, hypertension, diabetes mellitus, dyslipidemia, smoking and drinking. rs12425791 GA genotype was significantly associated with both cerebral infarction (P=0.024;OR=0.627;95%CI,0.417-0.941) and large-artery atherosclerosis (P=0.028;OR=0.613;95%CI,0.396-0.949). GA genotype may be a potential protective factor in male(OR=0.597;95%CI,0.364-0.978;P=0.041).While rs11833579 G>A genotype distribution was similar between cases and controls. Conclusion rs12425791 G>A on chromosome 12p13 may be a genetic marker for atherothrombotic brain infarction in Han population of Fujian.