Literature DB >> 20479774

Missing heritability and strategies for finding the underlying causes of complex disease.

Evan E Eichler1, Jonathan Flint, Greg Gibson, Augustine Kong, Suzanne M Leal, Jason H Moore, Joseph H Nadeau.   

Abstract

Although recent genome-wide studies have provided valuable insights into the genetic basis of human disease, they have explained relatively little of the heritability of most complex traits, and the variants identified through these studies have small effect sizes. This has led to the important and hotly debated issue of where the 'missing heritability' of complex diseases might be found. Here, seven leading geneticists offer their opinion about where this heritability is likely to lie, what this could tell us about the underlying genetic architecture of common diseases and how this could inform research strategies for uncovering genetic risk factors.

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Year:  2010        PMID: 20479774      PMCID: PMC2942068          DOI: 10.1038/nrg2809

Source DB:  PubMed          Journal:  Nat Rev Genet        ISSN: 1471-0056            Impact factor:   53.242


  59 in total

1.  Multiple rare alleles contribute to low plasma levels of HDL cholesterol.

Authors:  Jonathan C Cohen; Robert S Kiss; Alexander Pertsemlidis; Yves L Marcel; Ruth McPherson; Helen H Hobbs
Journal:  Science       Date:  2004-08-06       Impact factor: 47.728

2.  Single-nucleotide polymorphisms inside microRNA target sites influence tumor susceptibility.

Authors:  Milena S Nicoloso; Hao Sun; Riccardo Spizzo; Hyunsoo Kim; Priyankara Wickramasinghe; Masayoshi Shimizu; Sylwia E Wojcik; Jana Ferdin; Tanja Kunej; Lianchun Xiao; Siranoush Manoukian; Giorgio Secreto; Fernando Ravagnani; Xuemei Wang; Paolo Radice; Carlo M Croce; Ramana V Davuluri; George A Calin
Journal:  Cancer Res       Date:  2010-03-23       Impact factor: 12.701

3.  RNA-mediated non-mendelian inheritance of an epigenetic change in the mouse.

Authors:  Minoo Rassoulzadegan; Valérie Grandjean; Pierre Gounon; Stéphane Vincent; Isabelle Gillot; François Cuzin
Journal:  Nature       Date:  2006-05-25       Impact factor: 49.962

Review 4.  Genome-scale approaches to the epigenetics of common human disease.

Authors:  Andrew P Feinberg
Journal:  Virchows Arch       Date:  2009-10-21       Impact factor: 4.064

5.  The Ter mutation in the dead end gene causes germ cell loss and testicular germ cell tumours.

Authors:  Kirsten K Youngren; Douglas Coveney; Xiaoning Peng; Chitralekha Bhattacharya; Laura S Schmidt; Michael L Nickerson; Bruce T Lamb; Jian Min Deng; Richard R Behringer; Blanche Capel; Edward M Rubin; Joseph H Nadeau; Angabin Matin
Journal:  Nature       Date:  2005-05-19       Impact factor: 49.962

6.  Complex interactions of new quantitative trait loci, Sluc1, Sluc2, Sluc3, and Sluc4, that influence the susceptibility to lung cancer in the mouse.

Authors:  R J Fijneman; S S de Vries; R C Jansen; P Demant
Journal:  Nat Genet       Date:  1996-12       Impact factor: 38.330

7.  RNA induction and inheritance of epigenetic cardiac hypertrophy in the mouse.

Authors:  Kay D Wagner; Nicole Wagner; Hossein Ghanbarian; Valérie Grandjean; Pierre Gounon; François Cuzin; Minoo Rassoulzadegan
Journal:  Dev Cell       Date:  2008-06       Impact factor: 12.270

Review 8.  Finding the missing heritability of complex diseases.

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
Journal:  Nature       Date:  2009-10-08       Impact factor: 49.962

Review 9.  Epistasis and its implications for personal genetics.

Authors:  Jason H Moore; Scott M Williams
Journal:  Am J Hum Genet       Date:  2009-09       Impact factor: 11.025

10.  Distinctive chromatin in human sperm packages genes for embryo development.

Authors:  Saher Sue Hammoud; David A Nix; Haiying Zhang; Jahnvi Purwar; Douglas T Carrell; Bradley R Cairns
Journal:  Nature       Date:  2009-06-14       Impact factor: 49.962

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  763 in total

Review 1.  The therapeutic potential of epigenetics in autoimmune diseases.

Authors:  Maria De Santis; Carlo Selmi
Journal:  Clin Rev Allergy Immunol       Date:  2012-02       Impact factor: 8.667

2.  Detecting specific genotype by environment interactions using marginal maximum likelihood estimation in the classical twin design.

Authors:  Dylan Molenaar; Sophie van der Sluis; Dorret I Boomsma; Conor V Dolan
Journal:  Behav Genet       Date:  2011-12-07       Impact factor: 2.805

3.  Next generation analytic tools for large scale genetic epidemiology studies of complex diseases.

Authors:  Leah E Mechanic; Huann-Sheng Chen; Christopher I Amos; Nilanjan Chatterjee; Nancy J Cox; Rao L Divi; Ruzong Fan; Emily L Harris; Kevin Jacobs; Peter Kraft; Suzanne M Leal; Kimberly McAllister; Jason H Moore; Dina N Paltoo; Michael A Province; Erin M Ramos; Marylyn D Ritchie; Kathryn Roeder; Daniel J Schaid; Matthew Stephens; Duncan C Thomas; Clarice R Weinberg; John S Witte; Shunpu Zhang; Sebastian Zöllner; Eric J Feuer; Elizabeth M Gillanders
Journal:  Genet Epidemiol       Date:  2011-12-06       Impact factor: 2.135

4.  The mystery of missing heritability: Genetic interactions create phantom heritability.

Authors:  Or Zuk; Eliana Hechter; Shamil R Sunyaev; Eric S Lander
Journal:  Proc Natl Acad Sci U S A       Date:  2012-01-05       Impact factor: 11.205

5.  Association detection between ordinal trait and rare variants based on adaptive combination of P values.

Authors:  Meida Wang; Weijun Ma; Ying Zhou
Journal:  J Hum Genet       Date:  2017-11-07       Impact factor: 3.172

6.  Coalitional game theory as a promising approach to identify candidate autism genes.

Authors:  Anika Gupta; Min Woo Sun; Kelley Marie Paskov; Nate Tyler Stockham; Jae-Yoon Jung; Dennis Paul Wall
Journal:  Pac Symp Biocomput       Date:  2018

Review 7.  Network analysis of GWAS data.

Authors:  Mark D M Leiserson; Jonathan V Eldridge; Sohini Ramachandran; Benjamin J Raphael
Journal:  Curr Opin Genet Dev       Date:  2013-11-26       Impact factor: 5.578

8.  The role of lipid-related genes, aging-related processes, and environment in healthspan.

Authors:  Alexander M Kulminski; Irina Culminskaya; Konstantin G Arbeev; Svetlana V Ukraintseva; Eric Stallard; Liubov Arbeeva; Anatoli I Yashin
Journal:  Aging Cell       Date:  2013-02-18       Impact factor: 9.304

9.  Trade-off in the effect of the APOE gene on the ages at onset of cardiocascular disease and cancer across ages, gender, and human generations.

Authors:  Alexander M Kulminski; Irina Culminskaya; Konstantin G Arbeev; Svetlana V Ukraintseva; Liubov Arbeeva; Anatoli I Yashin
Journal:  Rejuvenation Res       Date:  2013-02       Impact factor: 4.663

10.  The effects of a MAP2K5 microRNA target site SNP on risk for anxiety and depressive disorders.

Authors:  Kevin P Jensen; Henry R Kranzler; Murray B Stein; Joel Gelernter
Journal:  Am J Med Genet B Neuropsychiatr Genet       Date:  2014-01-16       Impact factor: 3.568

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