Literature DB >> 19481926

Common vs. rare allele hypotheses for complex diseases.

Nicholas J Schork1, Sarah S Murray, Kelly A Frazer, Eric J Topol.   

Abstract

There has been growing debate over the nature of the genetic contribution to individual susceptibility to common complex diseases such as diabetes, osteoporosis, and cancer. The 'Common Disease, Common Variant (CDCV)' hypothesis argues that genetic variations with appreciable frequency in the population at large, but relatively low 'penetrance' (or the probability that a carrier of the relevant variants will express the disease), are the major contributors to genetic susceptibility to common diseases. The 'Common Disease, Rare Variant (CDRV)' hypothesis, on the contrary, argues that multiple rare DNA sequence variations, each with relatively high penetrance, are the major contributors to genetic susceptibility to common diseases. Both hypotheses have their place in current research efforts.

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Year:  2009        PMID: 19481926      PMCID: PMC2914559          DOI: 10.1016/j.gde.2009.04.010

Source DB:  PubMed          Journal:  Curr Opin Genet Dev        ISSN: 0959-437X            Impact factor:   5.578


  45 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.  Haplotype diversity across 100 candidate genes for inflammation, lipid metabolism, and blood pressure regulation in two populations.

Authors:  Dana C Crawford; Christopher S Carlson; Mark J Rieder; Dana P Carrington; Qian Yi; Joshua D Smith; Michael A Eberle; Leonid Kruglyak; Deborah A Nickerson
Journal:  Am J Hum Genet       Date:  2004-03-10       Impact factor: 11.025

3.  Low LDL cholesterol in individuals of African descent resulting from frequent nonsense mutations in PCSK9.

Authors:  Jonathan Cohen; Alexander Pertsemlidis; Ingrid K Kotowski; Randall Graham; Christine Kim Garcia; Helen H Hobbs
Journal:  Nat Genet       Date:  2005-01-16       Impact factor: 38.330

Review 4.  Cystic fibrosis: a worldwide analysis of CFTR mutations--correlation with incidence data and application to screening.

Authors:  Joseph L Bobadilla; Milan Macek; Jason P Fine; Philip M Farrell
Journal:  Hum Mutat       Date:  2002-06       Impact factor: 4.878

5.  On the allelic spectrum of human disease.

Authors:  D E Reich; E S Lander
Journal:  Trends Genet       Date:  2001-09       Impact factor: 11.639

6.  The breast cancer information core: database design, structure, and scope.

Authors:  C Szabo; A Masiello; J F Ryan; L C Brody
Journal:  Hum Mutat       Date:  2000       Impact factor: 4.878

7.  Hypertension caused by a truncated epithelial sodium channel gamma subunit: genetic heterogeneity of Liddle syndrome.

Authors:  J H Hansson; C Nelson-Williams; H Suzuki; L Schild; R Shimkets; Y Lu; C Canessa; T Iwasaki; B Rossier; R P Lifton
Journal:  Nat Genet       Date:  1995-09       Impact factor: 38.330

8.  DNA sequence diversity in a 9.7-kb region of the human lipoprotein lipase gene.

Authors:  D A Nickerson; S L Taylor; K M Weiss; A G Clark; R G Hutchinson; J Stengård; V Salomaa; E Vartiainen; E Boerwinkle; C F Sing
Journal:  Nat Genet       Date:  1998-07       Impact factor: 38.330

Review 9.  Molecular genetics of human blood pressure variation.

Authors:  R P Lifton
Journal:  Science       Date:  1996-05-03       Impact factor: 47.728

10.  Rare independent mutations in renal salt handling genes contribute to blood pressure variation.

Authors:  Weizhen Ji; Jia Nee Foo; Brian J O'Roak; Hongyu Zhao; Martin G Larson; David B Simon; Christopher Newton-Cheh; Matthew W State; Daniel Levy; Richard P Lifton
Journal:  Nat Genet       Date:  2008-04-06       Impact factor: 38.330

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  298 in total

1.  Genetic variation at chromosome 8q24 in osteosarcoma cases and controls.

Authors:  Lisa Mirabello; Sonja I Berndt; Guillermo F Seratti; Laurie Burdett; Meredith Yeager; Salma Chowdhury; Kedest Teshome; Arinze Uzoka; Chester Douglass; Richard B Hayes; Robert N Hoover; Sharon A Savage
Journal:  Carcinogenesis       Date:  2010-06-07       Impact factor: 4.944

2.  Mapping of the UGT1A locus identifies an uncommon coding variant that affects mRNA expression and protects from bladder cancer.

Authors:  Wei Tang; Yi-Ping Fu; Jonine D Figueroa; Núria Malats; Montserrat Garcia-Closas; Nilanjan Chatterjee; Manolis Kogevinas; Dalsu Baris; Michael Thun; Jennifer L Hall; Immaculata De Vivo; Demetrius Albanes; Patricia Porter-Gill; Mark P Purdue; Laurie Burdett; Luyang Liu; Amy Hutchinson; Timothy Myers; Adonina Tardón; Consol Serra; Alfredo Carrato; Reina Garcia-Closas; Josep Lloreta; Alison Johnson; Molly Schwenn; Margaret R Karagas; Alan Schned; Amanda Black; Eric J Jacobs; W Ryan Diver; Susan M Gapstur; Jarmo Virtamo; David J Hunter; Joseph F Fraumeni; Stephen J Chanock; Debra T Silverman; Nathaniel Rothman; Ludmila Prokunina-Olsson
Journal:  Hum Mol Genet       Date:  2012-01-06       Impact factor: 6.150

3.  Rare missense variants in CHRNB4 are associated with reduced risk of nicotine dependence.

Authors:  Gabe Haller; Todd Druley; Francesco L Vallania; Robi D Mitra; Ping Li; Gustav Akk; Joe Henry Steinbach; Naomi Breslau; Eric Johnson; Dorothy Hatsukami; Jerry Stitzel; Laura J Bierut; Alison M Goate
Journal:  Hum Mol Genet       Date:  2011-10-31       Impact factor: 6.150

4.  Assessing the impact of non-differential genotyping errors on rare variant tests of association.

Authors:  Scott Powers; Shyam Gopalakrishnan; Nathan Tintle
Journal:  Hum Hered       Date:  2011-10-15       Impact factor: 0.444

5.  Rare coding variants in ALPL are associated with low serum alkaline phosphatase and low bone mineral density.

Authors:  Carrie M Nielson; Joseph M Zmuda; Amy S Carlos; Wendy J Wagoner; Emily A Larson; Eric S Orwoll; Robert F Klein
Journal:  J Bone Miner Res       Date:  2012-01       Impact factor: 6.741

6.  A novel genome-information content-based statistic for genome-wide association analysis designed for next-generation sequencing data.

Authors:  Li Luo; Yun Zhu; Momiao Xiong
Journal:  J Comput Biol       Date:  2012-05-31       Impact factor: 1.479

7.  Statistical tests for detecting rare variants using variance-stabilising transformations.

Authors:  Kai Wang; John H Fingert
Journal:  Ann Hum Genet       Date:  2012-06-25       Impact factor: 1.670

8.  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

9.  Chip-based direct genotyping of coding variants in genome wide association studies: utility, issues and prospects.

Authors:  Caroline M Nievergelt; Nathan E Wineinger; Ondrej Libiger; Phillip Pham; Guangfa Zhang; Dewleen G Baker; Nicholas J Schork
Journal:  Gene       Date:  2014-02-09       Impact factor: 3.688

10.  Lipoprotein lipase gene sequencing and plasma lipid profile.

Authors:  Dilek Pirim; Xingbin Wang; Zaheda H Radwan; Vipavee Niemsiri; John E Hokanson; Richard F Hamman; M Michael Barmada; F Yesim Demirci; M Ilyas Kamboh
Journal:  J Lipid Res       Date:  2013-11-09       Impact factor: 5.922

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