Laboratory of Amyloidosis and Neurodegeneration, Fundación Instituto Leloir-IIBBA-CONICET, Ciudad Autónoma de Buenos Aires (C.A.B.A.), Buenos Aires, Argentina.
Centro de Neuropsiquiatría y Neurología de la Conducta (CENECON), Facultad de Medicina, Universidad de Buenos Aires (UBA), C.A.B.A, Buenos Aires, Argentina.
Transl Psychiatry. 2019 Jan 31;9(1):55. doi: 10.1038/s41398-019-0394-9.
Rare coding variants in TREM2, PLCG2, and ABI3 were recently associated with the susceptibility to Alzheimer's disease (AD) in Caucasians. Frequencies and AD-associated effects of variants differ across ethnicities. To start filling the gap on AD genetics in South America and assess the impact of these variants across ethnicity, we studied these variants in Argentinian population in association with ancestry. TREM2 (rs143332484 and rs75932628), PLCG2 (rs72824905), and ABI3 (rs616338) were genotyped in 419 AD cases and 486 controls. Meta-analysis with European population was performed. Ancestry was estimated from genome-wide genotyping results. All variants show similar frequencies and odds ratios to those previously reported. Their association with AD reach statistical significance by meta-analysis. Although the Argentinian population is an admixture, variant carriers presented mainly Caucasian ancestry. Rare coding variants in TREM2, PLCG2, and ABI3 also modulate susceptibility to AD in populations from Argentina, and they may have a European heritage.
TREM2、PLCg2 和 ABI3 中的罕见编码变异最近与白种人易患阿尔茨海默病（AD）相关。变异的频率和 AD 相关效应在不同种族之间存在差异。为了开始填补南美洲 AD 遗传学方面的空白，并评估这些变异在不同种族中的影响，我们研究了阿根廷人群中的这些变异与祖先的关系。TREM2（rs143332484 和 rs75932628）、PLCg2（rs72824905）和 ABI3（rs616338）在 419 例 AD 病例和 486 例对照中进行了基因分型。与欧洲人群进行了荟萃分析。从全基因组基因分型结果估计了祖先。所有变体的频率和优势比与之前报道的相似。荟萃分析显示它们与 AD 的相关性具有统计学意义。尽管阿根廷人口是混合人群，但变异携带者主要具有白种人祖先。TREM2、PLCg2 和 ABI3 中的罕见编码变异也调节了来自阿根廷人群的 AD 易感性，并且它们可能具有欧洲血统。
