Finding the missing heritability of complex diseases

被引：0

作者：

Teri A. Manolio

Francis S. Collins

Nancy J. Cox

David B. Goldstein

Lucia A. Hindorff

David J. Hunter

Mark I. McCarthy

Erin M. Ramos

Lon R. Cardon

Aravinda Chakravarti

Judy H. Cho

Alan E. Guttmacher

Augustine Kong

Leonid Kruglyak

Elaine Mardis

Charles N. Rotimi

Montgomery Slatkin

David Valle

Alice S. Whittemore

Michael Boehnke

Andrew G. Clark

Evan E. Eichler

Greg Gibson

Jonathan L. Haines

Trudy F. C. Mackay

Steven A. McCarroll

Peter M. Visscher

机构：

[1] National Human Genome Research Institute,Departments of Medicine and Human Genetics

[2] Building 31,Department of Epidemiology

[3] Room 4B09,Department of Medicine, Division of Digestive Diseases

[4] 31 Center Drive,and Department of Ecology and Evolutionary Biology

[5] MSC 2152,Department of Integrative Biology

[6] Bethesda,Department of Biostatistics

[7] Maryland 20892-2152,Department of Molecular Biology and Genetics

[8] USA ,Department of Genome Sciences

[9] National Institutes of Health,Department of Genetics

[10] Building 1,Department of Genetics

[11] Room 126,undefined

[12] MSC 0148,undefined

[13] Bethesda,undefined

[14] Maryland 20892-0148,undefined

[15] USA ,undefined

[16] University of Chicago,undefined

[17] Room A612,undefined

[18] MC 6091,undefined

[19] 5841 South Maryland Avenue,undefined

[20] Chicago,undefined

[21] Illinois 60637,undefined

[22] USA,undefined

[23] Duke University,undefined

[24] The Institute for Genome Sciences and Policy (IGSP),undefined

[25] Box 91009,undefined

[26] Durham,undefined

[27] North Carolina 27708,undefined

[28] USA ,undefined

[29] National Human Genome Research Institute,undefined

[30] Office of Population Genomics,undefined

[31] Suite 4076,undefined

[32] MSC 9305,undefined

[33] 5635 Fishers Lane,undefined

[34] Rockville,undefined

[35] Maryland 20892-9305,undefined

[36] USA ,undefined

[37] Harvard School of Public Health,undefined

[38] 677 Huntington Avenue,undefined

[39] Boston,undefined

[40] Massachusetts 02115,undefined

[41] USA,undefined

[42] University of Oxford,undefined

[43] Oxford Centre for Diabetes,undefined

[44] Endocrinology and Metabolism,undefined

[45] Churchill Hospital,undefined

[46] Old Road,undefined

[47] Oxford OX3 7LJ,undefined

[48] UK,undefined

[49] and Wellcome Trust Centre for Human Genetics,undefined

[50] University of Oxford,undefined

来源：

Nature | 2009年 / 461卷

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摘要：

Genome-wide association studies have identified hundreds of genetic variants associated with complex human diseases, but most confer quite small increments of risk. There seems to be a large component of heritability somehow evading detection. Possible explanations for this 'missing heritability' include great numbers of small-effect variants yet to be found, rare structural or epigenetic variation not detected by current genotyping technology and hard-to-detect gene–gene and gene–environment interactions. Teri Manolio and colleagues examine the research strategies most likely to distinguish between these and other possible explanations.

引用

页码：747 / 753

页数：6

共 50 条

[1] Finding the missing heritability of complex diseases
Manolio, Teri A.
Collins, Francis S.
Cox, Nancy J.
Goldstein, David B.
Hindorff, Lucia A.
Hunter, David J.
McCarthy, Mark I.
Ramos, Erin M.
Cardon, Lon R.
Chakravarti, Aravinda
Cho, Judy H.
Guttmacher, Alan E.
Kong, Augustine
Kruglyak, Leonid
Mardis, Elaine
Rotimi, Charles N.
Slatkin, Montgomery
Valle, David
Whittemore, Alice S.
Boehnke, Michael
Clark, Andrew G.
Eichler, Evan E.
Gibson, Greg
Haines, Jonathan L.
Mackay, Trudy F. C.
McCarroll, Steven A.
Visscher, Peter M.
[J]. NATURE, 2009, 461 (7265) : 747 - 753
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