Ding X, Yue J R, Yang M, Hao Q K, Xiao H Y, Chen T, Gao L Y, Dong B R
Department of Geriatrics, West China Hospital, Sichuan University, Chengdu, Sichuan Province, China.
Department of Geriatrics, West China Hospital, Sichuan University, Chengdu, Sichuan Province, China
Genet Mol Res. 2015 May 4;14(2):4584-92. doi: 10.4238/2015.May.4.17.
The aim of this study was to explore the existence of a relationship between the rs189037 single nucleotide polymorphism (SNP) of the ataxia telangiectasia mutated (ATM) gene and cognitive impairment in the elderly (aged 60 years and above). In a cohort, 505 residents of Suinung City were consecutively recruited and their cognitive function was measured using a 30-point Mini-Mental State Examination (MMSE). The subjects were divided into cognitive impairment group and control group on the basis of MMSE scores. Presence of the rs189037 SNP variant was examined using polymerase chain reaction-restriction fragment length polymorphism. The prevalence rates of cognitive impairment were 32.7% in the whole sample. The genotype frequencies of the rs189037 polymorphism were 33.5% (CC), 50.7% (CT), and 15.8% (TT); the C and T allele frequencies were 58.8 and 41.2%, respectively. No significant differences in the frequency distributions of the CC, CT and TT genotypes were observed between cognitively impaired and control groups. We found that the rs189037 SNP was not directly correlated with cognitive impairment among the elderly Chinese Han population.
本研究旨在探讨共济失调毛细血管扩张症突变（ATM）基因的rs189037单核苷酸多态性（SNP）与老年人（60岁及以上）认知障碍之间是否存在关联。在一个队列中，连续招募了绥农市的505名居民，并使用30分的简易精神状态检查表（MMSE）测量他们的认知功能。根据MMSE评分将受试者分为认知障碍组和对照组。使用聚合酶链反应-限制性片段长度多态性检测rs189037 SNP变异的存在情况。整个样本中认知障碍的患病率为32.7%。rs189037多态性的基因型频率分别为33.5%（CC）、50.7%（CT）和15.8%（TT）；C和T等位基因频率分别为58.8%和41.2%。在认知障碍组和对照组之间，未观察到CC、CT和TT基因型频率分布的显著差异。我们发现，rs189037 SNP与中国汉族老年人群的认知障碍无直接关联。
