Association of Variants in PINX1 and TREM2 With Late-Onset Alzheimer Disease

Tosto Giuseppe; Vardarajan Badri; Sariya Sanjeev; Brickman Adam M.; Andrews Howard; Manly Jennifer J.; Schupf Nicole; Reyes-Dumeyer Dolly; Lantigua Rafael; Bennett David A.; De Jager Phillip L.; Mayeux Richard

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Association of Variants in PINX1 and TREM2 With Late-Onset Alzheimer Disease

机译：PINX1和TREM2中变种与晚期Alzheimer病的缔合

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Key PointsQuestionCan rare or uncommon coding variants confer risk of late-onset Alzheimer disease across different ethnic groups? FindingsVia this transethnic meta-analysis combining whole-exome and whole-genome sequencing data from 15030 participants in 3 case-control studies, novel variants in a new locus PINX1 and in a late-onset Alzheimer disease-associated gene TREM2 were identified. MeaningGenetic investigations across different ethnic groups in large study cohorts can improve understanding of late-onset Alzheimer disease genetic mechanisms and provide new, biologically testable hypotheses.

机译：关键要点稀有稀有或罕见的编码变体赋予不同族裔群体晚期阿尔茨海默病的风险？调查结果在3个病例对照研究中，组合全外和全基因组测序数据的整个exome和全基因组测序数据，鉴定了新的基因座PINX1和晚期阿尔茨海默病相关基因TREM2中的新型变体。大型研究队列中不同族群的意思调查可以改善对晚期阿尔茨海默病遗传机制的理解，并提供新的生物可验证的假设。

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《JAMA neurology》 |2019年第8期|共7页
作者
Tosto Giuseppe; Vardarajan Badri; Sariya Sanjeev; Brickman Adam M.; Andrews Howard; Manly Jennifer J.; Schupf Nicole; Reyes-Dumeyer Dolly; Lantigua Rafael; Bennett David A.; De Jager Phillip L.; Mayeux Richard;
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作者单位

Columbia Univ Coll Phys &

Surg Taub Inst Res Alzheimers Dis &

Aging Brain New York NY USA;

Columbia Univ Coll Phys &

Surg Taub Inst Res Alzheimers Dis &

Aging Brain New York NY USA;

Columbia Univ Coll Phys &

Surg Taub Inst Res Alzheimers Dis &

Aging Brain New York NY USA;

Columbia Univ Coll Phys &

Surg Taub Inst Res Alzheimers Dis &

Aging Brain New York NY USA;

Columbia Univ Coll Phys &

Surg Taub Inst Res Alzheimers Dis &

Aging Brain New York NY USA;

Columbia Univ Coll Phys &

Surg Taub Inst Res Alzheimers Dis &

Aging Brain New York NY USA;

Columbia Univ Coll Phys &

Surg Taub Inst Res Alzheimers Dis &

Aging Brain New York NY USA;

Columbia Univ Coll Phys &

Surg Taub Inst Res Alzheimers Dis &

Aging Brain New York NY USA;

Columbia Univ Coll Phys &

Surg Taub Inst Res Alzheimers Dis &

Aging Brain New York NY USA;

Rush Univ Med Ctr Rush Alzheimers Dis Ctr Chicago IL 60612 USA;

Columbia Univ Coll Phys &

Surg Taub Inst Res Alzheimers Dis &

Aging Brain New York NY USA;

Columbia Univ Coll Phys &

Surg Taub Inst Res Alzheimers Dis &

Aging Brain New York NY USA;

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正文语种 eng
中图分类神经病学与精神病学;
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专利

1. Association of Variants in PINX1 and TREM2 With Late-Onset Alzheimer Disease [J] . Tosto Giuseppe, Vardarajan Badri, Sariya Sanjeev, JAMA neurology . 2019,第8期

机译：PINX1和TREM2中变种与晚期Alzheimer病的缔合
2. The p.R47H Variant of TREM2 Gene is Associated With Late-onset Alzheimer Disease in Colombian Population [J] . Arboleda-Bustos Carlos E., Ortega-Rojas Jenny, Mahecha Maria F., Alzheimer disease and associated disorders . 2018,第4期

机译：Trem2基因的P.R47H变体与哥伦比亚人群的晚期爆发性阿尔茨海默病有关
3. R47H Variant of TREM2 Associated With Alzheimer Disease in a Large Late-Onset Family Clinical, Genetic, and Neuropathological Study [J] . Korvatska Olena, Leverenz James B., Jayadev Suman, JAMA neurology . 2015,第8期

机译：TREM2与阿尔茨海默氏病相关的R47H变异在大型晚期发病家庭的临床，遗传和神经病理学研究中
4. Classifier ensemble based analysis of a genome-wide SNP dataset concerning Late-Onset Alzheimer Disease [C] . IEEE International Conference on Cognitive Informatics . 2009

机译：基于分类的基于分析了关于晚期Alzheimer疾病的基因组SNP数据集
5. Unraveling How Dysfunction of the Microglial Gene TREM2 Increases Risk for Alzheimer's Disease [D] . Sayed, Faten. 2019

机译：解开微胶质基因Trem2的功能障碍如何增加阿尔茨海默病的风险
6. Association Study of the TREM2 Gene and Identification of a Novel Variant in Exon 2 in Iranian Patients with Late-Onset Alzheimers Disease [O] . Zohreh Mehrjoo, Amin Najmabadi, Seyedeh Sedigheh Abedini, 2015

机译：伊朗晚期阿尔茨海默氏病患者TREM2基因的关联研究和外显子2新变异的鉴定
7. Association of Variants in PINX1 and TREM2 With Late-Onset Alzheimer Disease [O] . Giuseppe Tosto, Badri Vardarajan, Sanjeev Sariya, 2019

机译：Pinx1和Trem2中变种与晚期Alzheimer疾病的关系

Association of Variants in PINX1 and TREM2 With Late-Onset Alzheimer Disease

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