SORL1基因多态性与轻度认知功能障碍的关联分析  

Association between SORL1 gene polymorphism and mild cognitive impairment

作　　者：高欣[1] 于会艳[2] 孙亮[1] 曾湘豫[2] 刘铭[1] 杨泽[1] 高芳堃[1] 秦斌[2] 

机构地区：[1]卫生部北京医院老年医学研究所,100730 [2]卫生部北京医院神经内科,100730

出　　处：《中国神经免疫学和神经病学杂志》2013年第1期9-12,16,共5页Chinese Journal of Neuroimmunology and Neurology

基　　金：国家自然科学基金资助项目(30400361);北京医院院级课题(BJ-2008-79)

摘　　要：目的分析北京地区汉族人群SORL1基因多态性与轻度认知功能障碍(mild cognitive impairment,MCI)的关联性。方法采用病例对照的关联分析方法,提取来自北京地区的汉族人群MCI患者(病例组)139例和健康对照213名外周血基因组DNA,应用聚合酶链反应-高分辨溶解曲线(polymerase chain reaction-highresolution melting curve,PCR-HRM)技术结合测序验证法检测SORL1基因rs668387位点单核苷酸多态性的分布情况,分析SORL1基因多态性与MCI的相关性。结果 MCI组中SORL1基因rs668387位点AA、AG和GG基因型频率分别为28.8%、45.3%和25.9%,对照组分别为29.1%、48.4%和22.5%;MCI组A、G等位基因频率分别为51.4%和48.6%,对照组分别为53.3%和46.7%,两组间基因型及等位基因频率分布差异无统计学意义(χ2=0.566,P=0.753;χ2=0.230,P=0.631)。男性MCI组与相同性别对照组AA、AG、GG基因型分别为39.0%、34.1%、26.8%和29.3%、46.3%、24.4%,A、G等位基因频率分别为56.1%、43.9%和52.4%、47.6%,二者分布差异无统计学意义(χ2=1.826,P=0.401;χ2=0.294,P=0.588)。女性MCI组与相同性别对照组AA、AG、GG基因型分别为24.5%、50.0%、25.5%和29.0%、49.6%、21.4%,A、G等位基因频率分别为49.5%、50.5%和53.8%、46.2%,二者分布差异无统计学意义(χ2=0.839,P=0.657;χ2=0.841,P=0.359)。结论 SORL1基因rs668387位点单核苷酸多态性与北京地区汉族人群MCI发生无明显相关性。Objective To investigate the correlation between SORL1 gene polymorphism and mild cognitive impairment （MCI） in the Han population in Beijing. Methods A case-control study was performed, consisting of 139 patients with MCI and 213 healthy controls. The peripheral blood genome DNA was extracted. Polymerase chain reaction-high resolution melting curve （PCR-HRM） combined with gene sequencing methods were used to determine the distribution of allele and genotype frequencies of the single nucleotide polymorphism （SNP） rs668387 of SORL1 gene. The relationship between polymorphism of SORL1 gene and susceptibility to MCI was assessed. Results In 139 patients with MCI, the AA, AG, GG genotype frequencies were 28.80//oo, 45.3% and 25.9% ; and in 213 healthy controls, the AA, AG, GG genotype frequencies were 29.1%, 48.4% and 22.5% respectively. The A, G allele frequencies in MC1 were 51.4% and 48.60/00 vs 53.3% and 46.7% in healthy control. There was no significant difference of the distribution of genotype （Х^2= 0. 566, P= 0. 753） and allele frequency （Х^2=0. 230, P=0. 631） between the two groups. The AA, AG, GG genotype frequencies in male MCI and male controls were 39.0%, 34.1%, 26.8% vs 29.3%, 46.3~, 24.4%. The A, G allele frequencies were 56.1%, 43.9% vs 52.4%, 47.6% in male MCI and male controls. The frequencies of the genotype and allele had no significant difference between MCI and healthy controls in males （Х^2= 1. 826, P= 0. 401 Х^2=0. 294, P=0. 588）. The AA, AG, GG genotype frequencies in female MCI and female controls were 24.5%, 50.0%, 25.5% vs29.0%, 49.6%, 21.4%. TheA, Gallele frequencieswere49.5%, 50.5% vs 53.8%, 46.2% in female MCI and female controls. The frequencies of the genotype and allele also had no significant difference between MCI and healthy controls in females （Х^2=0. 839, P = 0. 657; x = 0. 841, P = 0. 359）. Conclusions There is no significant association between SNP rs668387 of SORL1 gene and MCI in the Han population in Beijing.

关 键 词：轻度认知功能障碍 SORL1基因 单核苷酸多态性 

分 类 号：R741.02[医药卫生—神经病学与精神病学]