Association Analysis Between Two Gene Polymorphisms On Chromosome 12p13 And Yun Nan Han Chinese Cerebral Infarction Patients

Objective To investigate the genetic characteristics of two single nucleotide polymorphism(rs11833579G>A and rs 12425791G>A) on chromosome 12p 13 and to find the association between the two polymorphism with cerebral infarction and its subtypes in Yunnan Kunming Han population.Method This study was a population-based case control study, extraction DNA, polymerase chain reaction restriction amplification length polymorphism, and sequencing were used for the detection of NINJ2 genotypes in115 patients with ischemic stroke Which were Han Chinese population from the neurology of the First Affiliated Hospital of Kunming Medical University and 65 controls which were Han Chinese population with headache or dizzy but without cerebral infarction and have no family history of cerebral infarction from the neurology of the First Affiliated Hospital of Kunming Medical University, followed by the association analysis.Result Distributions of the two polymorphisms in cerebral infarction or control groups were respectively in agreement with Hardy-Weinberg equilibrium (HWE), indicating that no apparent bias was observed in the Han Yunnan populations. The minor allele frequencies (MAF) of rs11833579 and rs12425791 were respectively 33.8% and 35.2%,which observed different from the white race, the black race, Dutch and Japanese. Gene frequency cerebral infarction and its subtypes have no different from the control groups. Association analysis was carried out by logistic regression model after adjustment by sex, age, hypertension, diabetes mellitus, The abnormal of blood lipid metabolism, smoking, drink. Rs12425791G>A AA gene type and A allele were significantly associated with the cerebral Infarction (OR=4.858,95% CI,2.453-9.618;P=0.035) and arteriosclerotic cerebral stroke(OR=4.958; 95% CI,2.562-9.721; P=0.027);For the male patients the OR is higher, cerebral Infarction (OR=5.112,95%CI, 2.422-8.163; P=0.025) and arteriosclerotic cerebral Infarction (OR=5.147; 95%CI,1.536-8.731; P=0.043).But the polymorphism has no significantly associated with the cerebral Infarction.Conclusion:The length of polymorphism polymerase chain reaction fragments is accord with the experiment sequencing results. So the method we used is reliable, credible. The gene frequency of two loci of Rs11833579G>A and rs12425791G>A have different result in different racial and distribution. In rs 12425791 locus of the NINJ2 gene, the frequencies of AA genotype and allele A were higher in cerebral Infarction patients than that in controls. The frequency of allele A of the NINJ2 gene was higher in cerebral hemorrhage patients than that in controls, especially higher in male patients with arteriosclerotic cerebral Infarction (P<0.05) There is significant association between rs 12425791 site polymorphism of the NINJ2 gene and risk for cerebral Infarction in Han Yunnan population. But the polymorphism has no significantly associated with the cerebral infarction.