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目的:探讨E一选择素(E-selectin)基因多态性与新疆哈萨克族患者脑梗死(cebreral infarction,CI)的关系。方法:采用聚合酶链反应一限制性片段长度多态性(polymerase chain reaction-restriction fragment length polymorphism,PCR-RFLP)和DNA序列测定法检测103例CI及110例对照组E-selectin基因第4外显子A561C(S128R)、第10外显子C1839T(L554F)多态性。结果:E-se-lectin基因S128R基因型频率和等位基因频率在CI组和对照组比较差异有显著性(P<0.05),基因型频率的相对风险分析发现,SR基因型携带者患CI的风险是SS基因型的2.355倍(OR=2.355,95%CI:1.209～4.588);E-selectin L554F基因型在两组中的分布差异有显著性(X2=5.463,P<0.05),基因型频率的相对风险分析,LF基因型患CI的风险是LL基因型的2.315倍(OR=2.315,95%CI:1.132～4.737)。结论:E-selectin S128R和L554F多态性与脑梗死易感性有关;R等位基因和F等位基因可能是新疆哈萨克族CI发病的遗传易感基因。
Objective: To investigate the relationship between E-selectin gene polymorphism and Kazakh population with cerebral infarction (CI). Methods: A total of 103 cases of CI and 110 cases of control group were detected by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and DNA sequencing Exon A561C (S128R), exon 10 C1839T (L554F) polymorphism. Results: The frequencies of S128R genotype and allele of E-se-lectin gene were significantly different between CI group and control group (P <0.05). The relative risk analysis of the genotype frequency found that SR genotype carriers CI (OR = 2.355, 95% CI: 1.209 ~ 4.588). The distribution of E-selectin L554F genotype was significantly different between the two groups (X2 = 5.463, P <0.05) The relative risks of LF genotypes were 2.315-fold (OR = 2.315, 95% CI: 1.132-4.737) for LL genotypes in LF genotypes. Conclusion: The polymorphisms of E-selectin S128R and L554F are associated with the susceptibility to cerebral infarction. The R allele and F allele may be the genetic predisposition genes of CI in Kazak of Xinjiang.