Bridging the gap between statistical and biological epistasis in Alzheimer's disease.
Bridging the gap between statistical and biological epistasis in Alzheimer's disease.
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DOI：
10.1155/2015/870123
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发表时间：
2015
影响因子：
--
通讯作者：
Kauwe JS
中科院分区：
文献类型：
--
作者：
Ebbert MT;Ridge PG;Kauwe JS
阿尔茨海默氏病影响着全世界数百万人，预计发病率会随着人口老龄化而上升，但尽管经过数十年的研究和 20 多种已知的疾病标志物，但仍不存在有效的治疗方法。研究表明，阿尔茨海默病的遗传性缺失仍然很广泛，估计有 25% 的表型变异无法用已知变异来解释。缺失的遗传力可以通过缺失变异或上位性来解释。研究人员经常关注单个位点而不是上位相互作用，这可能是对基础生物学的过度简化，因为大多数表型都受到多个基因的影响。将研究工作集中在上位性上对于解决阿尔茨海默病的病因学至关重要，而识别和正确解释关键上位相互作用的关键将是弥合统计上位性和生物学上位性之间的差距。这篇综述涵盖了阿尔茨海默病上位性研究的现状，以及研究人员如何弥合统计和生物学上位性之间的差距，以帮助解决阿尔茨海默病的病因学。
Alzheimer's disease affects millions of people worldwide and incidence is expected to rise as the population ages, but no effective therapies exist despite decades of research and more than 20 known disease markers. Research has shown that Alzheimer's disease's missing heritability remains extensive with an estimated 25% of phenotypic variance unexplained by known variants. The missing heritability may be explained by missing variants or by epistasis. Researchers often focus on individual loci rather than epistatic interactions, which is likely an oversimplification of the underlying biology since most phenotypes are affected by multiple genes. Focusing research efforts on epistasis will be critical to resolving Alzheimer's disease etiology, and a major key to identifying and properly interpreting key epistatic interactions will be bridging the gap between statistical and biological epistasis. This review covers the current state of epistasis research in Alzheimer's disease and how researchers can bridge the gap between statistical and biological epistasis to help resolve Alzheimer's disease etiology.
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影响因子：
4.2
作者：
CONNOR, JR;MENZIES, SL;MUFSON, EJ
通讯作者：
MUFSON, EJ
DOI：
10.1056/nejmoa1211851
发表时间：
2013-01-10
期刊：
The New England journal of medicine
影响因子：
--
作者：
Guerreiro R;Wojtas A;Bras J;Carrasquillo M;Rogaeva E;Majounie E;Cruchaga C;Sassi C;Kauwe JS;Younkin S;Hazrati L;Collinge J;Pocock J;Lashley T;Williams J;Lambert JC;Amouyel P;Goate A;Rademakers R;Morgan K;Powell J;St George-Hyslop P;Singleton A;Hardy J;Alzheimer Genetic Analysis Group
通讯作者：
Alzheimer Genetic Analysis Group
影响因子：
2.5
作者：
Hiltunen, M;Mannermaa, A;Soininen, H
通讯作者：
Soininen, H
影响因子：
4.2
作者：
Bullock, James M.;Medway, Christopher;Morgan, Kevin
通讯作者：
Morgan, Kevin
影响因子：
30.8
作者：
通讯作者：
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