Literature DB >> 15100713

Are common disease susceptibility alleles the same in outbred and founder populations?

Dina L Newman1, Sabine Hoffjan, Catherine Bourgain, Mark Abney, Raluca I Nicolae, Elle T Profits, Michael A Grow, Karen Walker, Lori Steiner, Rodney Parry, Rebecca Reynolds, Mary Sara McPeek, Suzanne Cheng, Carole Ober.   

Abstract

Founder populations have been the subjects of complex disease studies because of their decreased genetic heterogeneity, increased linkage disequilibrium and more homogeneous environmental exposures. However, it is possible that disease alleles identified in founder populations may not contribute significantly to susceptibility in outbred populations. In this study we examine the Hutterites, a founder population of European descent, for 103 polymorphisms in 66 genes that are candidates for cardiovascular or inflammatory diseases. We compare the frequencies of alleles at these loci in the Hutterites to their frequencies in outbred European-American populations and test for associations with cardiovascular disease-associated phenotypes in the Hutterites. We show that alleles at these loci are found at similar frequencies in the Hutterites and in outbred populations. In addition, we report associations between 39 alleles or haplotypes and cardiovascular disease phenotypes (P<0.05), with five loci remaining significant after adjusting for multiple comparisons. These data indicate that this founder population is informative and offers considerable advantages for genetic studies of common complex diseases.

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Year:  2004        PMID: 15100713     DOI: 10.1038/sj.ejhg.5201191

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN: 1018-4813            Impact factor:   4.246


  17 in total

1.  Increased power of mixed models facilitates association mapping of 10 loci for metabolic traits in an isolated population.

Authors:  Eimear E Kenny; Minseung Kim; Alexander Gusev; Jennifer K Lowe; Jacqueline Salit; J Gustav Smith; Sirisha Kovvali; Hyun Min Kang; Christopher Newton-Cheh; Mark J Daly; Markus Stoffel; David M Altshuler; Jeffrey M Friedman; Eleazar Eskin; Jan L Breslow; Itsik Pe'er
Journal:  Hum Mol Genet       Date:  2010-11-30       Impact factor: 6.150

2.  Correlation of intergenerational family sizes suggests a genetic component of reproductive fitness.

Authors:  Anna Pluzhnikov; Daniel K Nolan; Zhiqiang Tan; Mary Sara McPeek; Carole Ober
Journal:  Am J Hum Genet       Date:  2007-05-02       Impact factor: 11.025

3.  Genome-wide association study of plasma lipoprotein(a) levels identifies multiple genes on chromosome 6q.

Authors:  Carole Ober; Alex S Nord; Emma E Thompson; Lin Pan; Zheng Tan; Darren Cusanovich; Ying Sun; Raluca Nicolae; Celina Edelstein; Daniel H Schneider; Christine Billstrand; Ditta Pfaffinger; Natasha Phillips; Rebecca L Anderson; Binu Philips; Ramakrishnan Rajagopalan; Thomas S Hatsukami; Mark J Rieder; Patrick J Heagerty; Deborah A Nickerson; Mark Abney; Santica Marcovina; Gail P Jarvik; Angelo M Scanu; Dan L Nicolae
Journal:  J Lipid Res       Date:  2009-01-05       Impact factor: 5.922

4.  Variation in ITGB3 is associated with asthma and sensitization to mold allergen in four populations.

Authors:  Lauren A Weiss; Lucille A Lester; James E Gern; Raoul L Wolf; Rodney Parry; Robert F Lemanske; Julian Solway; Carole Ober
Journal:  Am J Respir Crit Care Med       Date:  2005-04-07       Impact factor: 21.405

5.  The genetic response to short-term interventions affecting cardiovascular function: rationale and design of the Heredity and Phenotype Intervention (HAPI) Heart Study.

Authors:  Braxton D Mitchell; Patrick F McArdle; Haiqing Shen; Evadnie Rampersaud; Toni I Pollin; Lawrence F Bielak; Cashell Jaquish; Julie A Douglas; Marie-Hélène Roy-Gagnon; Paul Sack; Rosalie Naglieri; Scott Hines; Richard B Horenstein; Yen-Pei C Chang; Wendy Post; Kathleen A Ryan; Nga Hong Brereton; Ruth E Pakyz; John Sorkin; Coleen M Damcott; Jeffrey R O'Connell; Charles Mangano; Mary Corretti; Robert Vogel; William Herzog; Matthew R Weir; Patricia A Peyser; Alan R Shuldiner
Journal:  Am Heart J       Date:  2008-03-05       Impact factor: 4.749

6.  Variation in ITGB3 has sex-specific associations with plasma lipoprotein(a) and whole blood serotonin levels in a population-based sample.

Authors:  Lauren A Weiss; Mark Abney; Rodney Parry; Angelo M Scanu; Edwin H Cook; Carole Ober
Journal:  Hum Genet       Date:  2005-04-15       Impact factor: 4.132

Review 7.  Lipoprotein(a): genotype-phenotype relationship and impact on atherogenic risk.

Authors:  Byambaa Enkhmaa; Erdembileg Anuurad; Wei Zhang; Tina Tran; Lars Berglund
Journal:  Metab Syndr Relat Disord       Date:  2011-07-12       Impact factor: 1.894

8.  The CFTR Met 470 allele is associated with lower birth rates in fertile men from a population isolate.

Authors:  Gülüm Kosova; Joseph K Pickrell; Joanna L Kelley; Patrick F McArdle; Alan R Shuldiner; Mark Abney; Carole Ober
Journal:  PLoS Genet       Date:  2010-06-03       Impact factor: 5.917

9.  Shades of gray: a comparison of linkage disequilibrium between Hutterites and Europeans.

Authors:  Emma E Thompson; Ying Sun; Dan Nicolae; Carole Ober
Journal:  Genet Epidemiol       Date:  2010-02       Impact factor: 2.135

10.  Genome-wide association studies in an isolated founder population from the Pacific Island of Kosrae.

Authors:  Jennifer K Lowe; Julian B Maller; Itsik Pe'er; Benjamin M Neale; Jacqueline Salit; Eimear E Kenny; Jessica L Shea; Ralph Burkhardt; J Gustav Smith; Weizhen Ji; Martha Noel; Jia Nee Foo; Maude L Blundell; Vita Skilling; Laura Garcia; Marcia L Sullivan; Heather E Lee; Anna Labek; Hope Ferdowsian; Steven B Auerbach; Richard P Lifton; Christopher Newton-Cheh; Jan L Breslow; Markus Stoffel; Mark J Daly; David M Altshuler; Jeffrey M Friedman
Journal:  PLoS Genet       Date:  2009-02-06       Impact factor: 5.917

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