Finding the Missing Heritability of Complex Diseases

Overview

Journal Nature

Specialty Science

Date 2009 Oct 9

PMID 19812666

Citations 4030

Authors

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

Affiliations

Soon will be listed here.

Abstract

Genome-wide association studies have identified hundreds of genetic variants associated with complex human diseases and traits, and have provided valuable insights into their genetic architecture. Most variants identified so far confer relatively small increments in risk, and explain only a small proportion of familial clustering, leading many to question how the remaining, 'missing' heritability can be explained. Here we examine potential sources of missing heritability and propose research strategies, including and extending beyond current genome-wide association approaches, to illuminate the genetics of complex diseases and enhance its potential to enable effective disease prevention or treatment.

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