Dongguan Scientific Research Center, Guangdong Medical University, Dongguan, Guangdong 523808, China; School of Pharmacy, Guangdong Medical University, Dongguan, Guangdong 523808, China; Key Laboratory for Research and Development of Natural Drugs of Guangdong Province, Zhanjiang, Guangdong 524023, China.
Department of Biochemistry and Molecular Biology, Guangxi Medical University, Nanning, Guangxi 530021, China.
Biomed Res Int. 2016;2016:9418163. doi: 10.1155/2016/9418163. Epub 2016 Aug 15.
Choline acetyltransferase (CHAT) rs3810950 and rs2177369 polymorphisms have been implicated in susceptibility to Alzheimer's disease (AD). Due to the inconsistent results from previous studies, a meta-analysis was performed to estimate the association between these polymorphisms and AD risk more precisely. Pooled results of our meta-analysis indicated CHAT rs2177369 polymorphism was correlated with decreasing AD risk in one of five genetic models (dominant: OR = 0.77, 95% CI: 0.62-0.96), while rs3810950 mutant was associated with AD development in three models (allelic: OR = 1.18, 95% CI: 1.01-1.37, homozygous: OR = 1.63, 95% CI: 1.09-2.42, and recessive: OR = 1.65, 95% CI: 1.20-2.26). In subgroup analysis by ethnicity, the association between CHAT rs3810950 polymorphism and AD risk was just found in the recessive model (OR = 1.47, 95% CI: 1.05-2.07) among Caucasians, while four genetic models (allelic: OR = 1.23, 95% CI: 1.01-1.48; homozygous: OR = 2.24, 95% CI: 1.48-3.39; dominant: OR = 1.21, 95% CI: 1.06-1.40; and recessive: OR = 2.18, 95% CI: 1.45-3.29) assumed this association in Asians. In conclusion, our meta-analysis indicated CHAT rs2177369 polymorphism might play a protective role in AD, while rs3810950 variant was a risk factor for AD but its single heterozygous mutations might not influence susceptibility to AD.
胆碱乙酰转移酶（CHAT）rs3810950 和 rs2177369 多态性与阿尔茨海默病（AD）易感性有关。由于先前研究的结果不一致，因此进行了荟萃分析以更准确地估计这些多态性与 AD 风险之间的关联。我们荟萃分析的汇总结果表明，CHAT rs2177369 多态性与五种遗传模型之一中的 AD 风险降低相关（显性：OR=0.77，95%CI：0.62-0.96），而 rs3810950 突变型与三种模型中的 AD 发病相关（等位基因：OR=1.18，95%CI：1.01-1.37，纯合子：OR=1.63，95%CI：1.09-2.42，和隐性：OR=1.65，95%CI：1.20-2.26）。按种族进行亚组分析时，仅在白种人中发现 CHAT rs3810950 多态性与 AD 风险之间存在隐性模型相关（OR=1.47，95%CI：1.05-2.07），而四个遗传模型（等位基因：OR=1.23，95%CI：1.01-1.48；纯合子：OR=2.24，95%CI：1.48-3.39；显性：OR=1.21，95%CI：1.06-1.40；和隐性：OR=2.18，95%CI：1.45-3.29）假定亚洲人群中存在这种关联。总之，我们的荟萃分析表明，CHAT rs2177369 多态性可能在 AD 中起保护作用，而 rs3810950 变体是 AD 的危险因素，但单个杂合突变可能不会影响 AD 的易感性。
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