GRIN2B近似启动子区多态性与散发性阿尔茨海默病相关性分析

GRIN2B approximate promoter polymorphisms in sporadic Alzheimer's disease

目的进一步探讨中国北方汉族人群N-甲基-D-天冬氨酸受体2B(N-methyl-D-aspartate receptor 2B,NR2B)基因GRIN2B近似启动子区(-2454bp至-1269 bp)变异与散发性阿尔茨海默病(sporadic Alzheimer's disease,SAD)的关系。方法利用聚合酶链反应-限制性片段长度多态性(polymerase chain reaction-restriction fragmentlength polymorphism,PCR-RFLP)的方法对中国北方汉族362例SAD患者和334例正常对照者进行GRIN2B近似启动子多态性及载脂蛋白E(apolipoprotein,APOE)分型。结果中国北方汉族人群中GRIN2B近似启动子区除之前发现的-1447T/C(ENS10557853)和-1497G/A(rs12368476)多态性位点外,还存在-1887A/G(rs10845866)和-2315A/G(rs10845867)两个多态性位点。-1887A/G和-2315A/G多态性在SAD和正常对照组中的基因型频率(P=0.841和P=0.298)无显著性差异,等位基因频率(P=0.605和P=0.409)也无显著性差异。无论是否携带APOEε4,-1887A/G和-2315A/G多态性的基因型频率及等位基因频率也均无显著性差异。结论近似启动子区(-2454bp至-1268bp)-1887A/G和-2315A/G变异与AD发病无明显相关性。

Objective To further study the association between promoter（-2454bp to-1269bp） variations of N-methyl-D-aspartate receptor 2B（NR2B） subunit gene（GRIN2B） and Alzheimer＇s disease in Chinese Han population.Methods All GRIN2B approximate promoter and APOE polymorphisms of 362 SAD patients and 334 healthy controls in the North Chinese Han population were genotyped by PCR-restriction fragment length polymorphism（PCR-RFLP） using emzyme digestion.Results This regional proximal promoter of GRIN2B had two polymorphisms detected by sequencing,which were-1887A/G（rs10845866） and-2315A/G（rs10845867）,excluding-1447T/C（ENS10557853） and-1497G/A（rs12368476） that we had found in previous study.There were no significant differences in genotype and allele frequencies for-1887A/G and-2315A/G between SAD and control（genotype P= 0.841 and 0.298,allele P= 0.605 and 0.409）.In the subjects with APOE ε4 allele whether or not,there still had no significant differences in genotype and allele frequencies.Conclusion The-1887A/G and-2315A/G were not significantly associated with AD susceptibility.