CR1基因多态性与汉族人迟发性阿尔茨海默病关系

目的研究补体受体1（CR1）基因多态性与汉族人迟发性阿尔茨海默病（LOAD）的关系。方法选取611例中国北方汉族人,其中LOAD病人（LOAD组）254例,正常人（对照组）357例。采用聚合酶链反应-限制性片段长度多态性方法（PCR-RFLP）,检测两组CR1基因、载脂蛋白E（ApoE）基因多态性,并进行关联分析。结果携带ApoEε4等位基因可增加LOAD的发病风险（χ2=5.52,P〈0.05,OR=2.91,95%CI=2.06～4.12）;LOAD组与对照组CR1基因rs6656401的基因型和等位基因频率差异有显著性（χ2=6.56、7.16,P〈0.05）;等位基因A显著增加了LOAD的发病风险（OR=2.60,95%CI=1.13～5.98）。多因素Logistic回归分析显示,CR1基因rs6656401等位基因A携带者（基因型AA和AG）较基因型GG纯合子导致LOAD的风险高2.40倍（OR=2.40,95%CI=1.00～5.73）。结论 CR1基因多态性在汉族散发LOAD的发病机制中起着重要作用。

RELATIONSHIP BETWEEN COMPLEMENT RECEPTOR 1 GENE POLYMORPHISM AND LATE-ONSET ALZHEIMER DISEASE IN HAN PEOPLE

Objective To investigate the correlation between polymorphism of complement receptor 1（CR1） gene,apolipoprotein E（ApoE） gene and late-onset Alzheimer disease（LOAD）.Methods Polymerase chain reaction and restrictive fragment length polymorphism（PCR-RFLP） were used to detect the polymorphism of CR1 gene and ApoE gene of 611 Han people in North China,of whom,254 were LOAD patients,and 357 normal controls.Results The presence of ApoEε4 allele increased the risk of LOAD（χ2=5.52,P0.05;OR=2.91,95%CI=2.06-4.12）;there was a significant difference between LOAD group and the control in terms of genotype rs6656401and allele frequencies（χ2=6.56,7.16;P0.05）;the A allele significantly raised the risk of developing LOAD（OR=2.60,95%CI=1.13-5.98）.A logistic regression analysis revealed that the SNP rs6656401（AA＋AG） genotypes had a 2.40-fold higher risk than the GG genotype in causing LOAD（OR=2.40,95%CI=1.00-5.73）.Conclusion The polymorphism of CR1 gene plays an important role in the pathogenesis of sporadic LOAD in Han people.