SORLl基因rs2070045单核苷酸多态性与遗忘型轻度认知功能障碍的关联分析

目的分析北京地区汉族人群分拣蛋白相关受体1（sortilin-relatedreceptorl，SORL1，又称sorl1或LR11）rs2070045单核苷酸多态性与遗忘型轻度认知功能障碍（amnesticmildcognitiveimpairment，aMCI）是否存在关联。方法采用病例对照的关联分析方法，提取139例aMCI（病例组）和213例非认知障碍健康人（对照组）外周血中基因组DNA，应用聚合酶链反应-高分辨溶解曲线（PCR-HRM）技术结合测序验证法检测SORLl基因rs2070045位点单核苷酸多态性的分布情况，分析SORL1基因多态性与aMCI的相关性。结果aMCI组中GG，GT，TT基因型分别为54例（38．8），65例（46．8），20例（14．4）；对照组中GG，GT，TT基因型分别为59例（27．7），103例（48．4），51例（23．9）。aMCI组与对照组SORL1基因rs2070045单核苷酸多态性的基因型及等位基因频率分布差异明显（X2=7．109，P=0．029；X2=7．315，P=0．007），男性aMCI组与对照组基因型及等位基因频率分布差异不明显（X2=3．068，P=0．216；X2=2．357，P=0．125），女性aMCI组与对照组基因型频率分布差异也不明显（X2=4．229，P=0．121），等位基因频率分布差异明显（x。=4：438，P=0．035）。结论SORL1基因rs2070045位点单核苷酸多态性与北京地区汉族人群aMCI的发生明显相关，G等位基因为危险等位基因。

Association between amnestic mild cognitive impairment in Han population in Beijing and SORL1 gene rs2070045 polymorphism

ObJective To investigate the correlation between SORL1 gene polymorphism and amnestic mild cognitive impairment （aMCI） in the Han population in Beijing. Methods A case-control experiment was performed, consisting of 139 patients with aMCI and 213 healthy controls. Then peripheral blood genorne 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 sin- gle-nucleotide polymorphism （SNP） of rs2070045 of SORL1 gene. The relationship between polymorphism of SORL1 gene and susceptibility to aMCI was assessed. Results In 139 patients with aMCI, the genotypes of GG, GT and ＂IT were found in 54 （38. 8%）, 65 （46. 8%） and 20 patients （14. 4%） respectively; and in 213 healthy controls, the genotypes of GG,GT and TT were found respectively in 59 （27. 7%）, 103 （48. 4%）, 51 patients （23. 9%）. There was significant difference of the distribution of genotype （X2 = 7. 109, P = 0. 029） and allele frequency （X2 = 7. 315 ,P = 0. 007） between the two groups. The frequencies of the genotype and al- lele had no significant difference between the patients and healthy controls in males （Z2 = 3. 068, P = 0. 216;）X2 = 2. 357,P = 0. 125）. The frequencies of the genotype had no significant difference between the patients and healthy controls in females （Z2 = 4. 229,P = 0. 121）, but the frequencies of the allele had significant difference （X2 = 4. 438,P = 0. 035） between this two groups. Conclusions There is obvious association between SNP rs2070045 of SORL1 gene with amnestic mild cognitive impairment in the Han population in Beijing. And G allele is the risk allele.