| Objectives:To observe and compare the difference in the distribution of rs4880,rs2758331 and rs5746136 polymorphism of Mn-SOD gene between patients with intracranial atherosclerotic stenosis cerebral infarction and those with suspected cerebral infarction by DSA,in order to explore the correlation between the incidence of intracranial atherosclerotic stenosis cerebral infarction from the genetic level.Methods:In the case-control study,150 patients with intracranial atherosclerotic and stenotic cerebral infarction confirmed by cerebral DSA in neurology department of Youjiang Medical College Affiliated Hospital from October 2018 to October 2019 were selected as the case group,while 150 patients with suspected cerebral infarction checked by DSA and normal cerebral vessels were selected as the control group.The peripheral blood Mn-SOD of the subjects was sequenced by PCR Sanger DNA sequencing The polymorphisms of rs4880,rs2758331 and rs5746136 loci were detected and genotyped.The differences of genotype frequency distribution and allele frequency distribution in each locus of the two groups were analyzed.The susceptibility of each locus to cerebral infarction was evaluated.The Mn-SOD genes rs4880,rs2758331 and rs5746136 were analyzed by using the shesis online analysis system The linkage disequilibrium analysis and haplotype analysis were carried out.Results:(1)TT,TC and CC were detected at rs4880,CC,AC and AA at rs2758331,and GG,Ag and AA at rs5746136.(2)Compared with the control group,the difference between the rs4880 genotype frequency distribution(x~2=7.210,P=0.027)and the allele frequency distribution(x~2=7.454,P=0.006)is statistically significant;There was no significant difference in the rs2758331 gene frequency distribution of the genotype(x~2=0.622,P=0.733)and the frequency distribution of the allele(x~2=0.137,P=0.711);The frequency distribution of the genotype of rs5746136(x~2=2.270,P=0.321))and the allele frequency distribution(x~2=1.328,P=0.249)had no statistical significance.(3)Compared with T allele,C allele at rs4880 has a lower risk of intracranial atherosclerotic stenosis cerebral Infarction(OR=0.583,95%CI,0.396～0.861,P=0.006).The difference between patients with TC or TC+CC genotype at rs4880 and those with TT genotype was statistically significant,suggesting that TC or TC+CC genotype at rs4880 significantly reduced the risk of intracranial atherosclerotic stenosis cerebral Infarction(TC vs.TT:OR=0.568,95%CI,0.347～0.930,P=0.025和TC+CC vs.TT:OR=0.538,95%CI,0.336～0.860,P=0.010).(4)TCG(42.5%in the case group,39.6%in the control group)and TCA haplotypes(37.0%in the case group,30.6%in the control group)are the main forms of haplotypes constructed at three sites in the two groups Haplotypes may reduce the risk of intracranial atherosclerotic stenosis cerebral Infarction,and CCA haplotypes may decrease more significantly(CAA:OR=0.095,95%CI,0.014～0.645,P=0.003;CCA:OR=0.338,95%CI,0.170～0.672,P=0.001);CAG haplotypes may increase the risk of intracranial atherosclerotic stenosis cerebral Infarction(CAG:OR=1.902,95%CI,1.023～3.535,P=0.039).Conclusions:(1)The C allele of rs4880 may be a protective factor to reduce the risk of intracranial atherosclerotic stenosis cerebral Infarction.TC or TC+CC genotype significantly reduced the risk of intracranial atherosclerotic stenosis cerebral Infarction,suggesting that the SNP of rs4880 of Mn-SOD gene is related to the susceptibility of intracranial atherosclerotic stenosis cerebral Infarction.(2)CAA and CCA haplotypes may reduce the risk of intracranial atherosclerotic stenosis cerebral Infarction,and the decrease of CCA haplotypes is more significant;CAG haplotypes may increase the risk of intracranial atherosclerotic stenosis cerebral Infarction. |
PDF Full Text Request