Literature DB >> 15781572

The linkage disequilibrium maps of three human chromosomes across four populations reflect their demographic history and a common underlying recombination pattern.

Francisco M De La Vega1, Hadar Isaac, Andrew Collins, Charles R Scafe, Bjarni V Halldórsson, Xiaoping Su, Ross A Lippert, Yu Wang, Marion Laig-Webster, Ryan T Koehler, Janet S Ziegle, Lewis T Wogan, Junko F Stevens, Kyle M Leinen, Sheri J Olson, Karl J Guegler, Xiaoqing You, Lily H Xu, Heinz G Hemken, Francis Kalush, Mitsuo Itakura, Yi Zheng, Guy de Thé, Stephen J O'Brien, Andrew G Clark, Sorin Istrail, Michael W Hunkapiller, Eugene G Spier, Dennis A Gilbert.   

Abstract

The extent and patterns of linkage disequilibrium (LD) determine the feasibility of association studies to map genes that underlie complex traits. Here we present a comparison of the patterns of LD across four major human populations (African-American, Caucasian, Chinese, and Japanese) with a high-resolution single-nucleotide polymorphism (SNP) map covering almost the entire length of chromosomes 6, 21, and 22. We constructed metric LD maps formulated such that the units measure the extent of useful LD for association mapping. LD reaches almost twice as far in chromosome 6 as in chromosomes 21 or 22, in agreement with their differences in recombination rates. By all measures used, out-of-Africa populations showed over a third more LD than African-Americans, highlighting the role of the population's demography in shaping the patterns of LD. Despite those differences, the long-range contour of the LD maps is remarkably similar across the four populations, presumably reflecting common localization of recombination hot spots. Our results have practical implications for the rational design and selection of SNPs for disease association studies.

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Year:  2005        PMID: 15781572      PMCID: PMC1074360          DOI: 10.1101/gr.3241705

Source DB:  PubMed          Journal:  Genome Res        ISSN: 1088-9051            Impact factor:   9.043


  47 in total

1.  A SNP resource for human chromosome 22: extracting dense clusters of SNPs from the genomic sequence.

Authors:  E Dawson; Y Chen; S Hunt; L J Smink; A Hunt; K Rice; S Livingston; S Bumpstead; R Bruskiewich; P Sham; R Ganske; M Adams; K Kawasaki; N Shimizu; S Minoshima; B Roe; D Bentley; I Dunham
Journal:  Genome Res       Date:  2001-01       Impact factor: 9.043

2.  The optimal measure of allelic association.

Authors:  N E Morton; W Zhang; P Taillon-Miller; S Ennis; P Y Kwok; A Collins
Journal:  Proc Natl Acad Sci U S A       Date:  2001-04-17       Impact factor: 11.205

3.  The genome-wide distribution of background linkage disequilibrium in a population isolate.

Authors:  S K Service; R A Ophoff; N B Freimer
Journal:  Hum Mol Genet       Date:  2001-03-01       Impact factor: 6.150

4.  High-resolution haplotype structure in the human genome.

Authors:  M J Daly; J D Rioux; S F Schaffner; T J Hudson; E S Lander
Journal:  Nat Genet       Date:  2001-10       Impact factor: 38.330

5.  Intensely punctate meiotic recombination in the class II region of the major histocompatibility complex.

Authors:  A J Jeffreys; L Kauppi; R Neumann
Journal:  Nat Genet       Date:  2001-10       Impact factor: 38.330

6.  High levels of sequence polymorphism and linkage disequilibrium at the telomere of 12q: implications for telomere biology and human evolution.

Authors:  D M Baird; J Coleman; Z H Rosser; N J Royle
Journal:  Am J Hum Genet       Date:  2000-01       Impact factor: 11.025

7.  Impact of population structure, effective bottleneck time, and allele frequency on linkage disequilibrium maps.

Authors:  Weihua Zhang; Andrew Collins; Jane Gibson; William J Tapper; Sarah Hunt; Panos Deloukas; David R Bentley; Newton E Morton
Journal:  Proc Natl Acad Sci U S A       Date:  2004-12-16       Impact factor: 11.205

8.  Localization of psoriasis-susceptibility locus PSORS1 to a 60-kb interval telomeric to HLA-C.

Authors:  R P Nair; P Stuart; T Henseler; S Jenisch; N V Chia; E Westphal; N J Schork; J Kim; H W Lim; E Christophers; J J Voorhees; J T Elder
Journal:  Am J Hum Genet       Date:  2000-05-05       Impact factor: 11.025

9.  Lower-than-expected linkage disequilibrium between tightly linked markers in humans suggests a role for gene conversion.

Authors:  K Ardlie; S N Liu-Cordero; M A Eberle; M Daly; J Barrett; E Winchester; E S Lander; L Kruglyak
Journal:  Am J Hum Genet       Date:  2001-07-25       Impact factor: 11.025

10.  The sequence of the human genome.

Authors:  J C Venter; M D Adams; E W Myers; P W Li; R J Mural; G G Sutton; H O Smith; M Yandell; C A Evans; R A Holt; J D Gocayne; P Amanatides; R M Ballew; D H Huson; J R Wortman; Q Zhang; C D Kodira; X H Zheng; L Chen; M Skupski; G Subramanian; P D Thomas; J Zhang; G L Gabor Miklos; C Nelson; S Broder; A G Clark; J Nadeau; V A McKusick; N Zinder; A J Levine; R J Roberts; M Simon; C Slayman; M Hunkapiller; R Bolanos; A Delcher; I Dew; D Fasulo; M Flanigan; L Florea; A Halpern; S Hannenhalli; S Kravitz; S Levy; C Mobarry; K Reinert; K Remington; J Abu-Threideh; E Beasley; K Biddick; V Bonazzi; R Brandon; M Cargill; I Chandramouliswaran; R Charlab; K Chaturvedi; Z Deng; V Di Francesco; P Dunn; K Eilbeck; C Evangelista; A E Gabrielian; W Gan; W Ge; F Gong; Z Gu; P Guan; T J Heiman; M E Higgins; R R Ji; Z Ke; K A Ketchum; Z Lai; Y Lei; Z Li; J Li; Y Liang; X Lin; F Lu; G V Merkulov; N Milshina; H M Moore; A K Naik; V A Narayan; B Neelam; D Nusskern; D B Rusch; S Salzberg; W Shao; B Shue; J Sun; Z Wang; A Wang; X Wang; J Wang; M Wei; R Wides; C Xiao; C Yan; A Yao; J Ye; M Zhan; W Zhang; H Zhang; Q Zhao; L Zheng; F Zhong; W Zhong; S Zhu; S Zhao; D Gilbert; S Baumhueter; G Spier; C Carter; A Cravchik; T Woodage; F Ali; H An; A Awe; D Baldwin; H Baden; M Barnstead; I Barrow; K Beeson; D Busam; A Carver; A Center; M L Cheng; L Curry; S Danaher; L Davenport; R Desilets; S Dietz; K Dodson; L Doup; S Ferriera; N Garg; A Gluecksmann; B Hart; J Haynes; C Haynes; C Heiner; S Hladun; D Hostin; J Houck; T Howland; C Ibegwam; J Johnson; F Kalush; L Kline; S Koduru; A Love; F Mann; D May; S McCawley; T McIntosh; I McMullen; M Moy; L Moy; B Murphy; K Nelson; C Pfannkoch; E Pratts; V Puri; H Qureshi; M Reardon; R Rodriguez; Y H Rogers; D Romblad; B Ruhfel; R Scott; C Sitter; M Smallwood; E Stewart; R Strong; E Suh; R Thomas; N N Tint; S Tse; C Vech; G Wang; J Wetter; S Williams; M Williams; S Windsor; E Winn-Deen; K Wolfe; J Zaveri; K Zaveri; J F Abril; R Guigó; M J Campbell; K V Sjolander; B Karlak; A Kejariwal; H Mi; B Lazareva; T Hatton; A Narechania; K Diemer; A Muruganujan; N Guo; S Sato; V Bafna; S Istrail; R Lippert; R Schwartz; B Walenz; S Yooseph; D Allen; A Basu; J Baxendale; L Blick; M Caminha; J Carnes-Stine; P Caulk; Y H Chiang; M Coyne; C Dahlke; A Deslattes Mays; M Dombroski; M Donnelly; D Ely; S Esparham; C Fosler; H Gire; S Glanowski; K Glasser; A Glodek; M Gorokhov; K Graham; B Gropman; M Harris; J Heil; S Henderson; J Hoover; D Jennings; C Jordan; J Jordan; J Kasha; L Kagan; C Kraft; A Levitsky; M Lewis; X Liu; J Lopez; D Ma; W Majoros; J McDaniel; S Murphy; M Newman; T Nguyen; N Nguyen; M Nodell; S Pan; J Peck; M Peterson; W Rowe; R Sanders; J Scott; M Simpson; T Smith; A Sprague; T Stockwell; R Turner; E Venter; M Wang; M Wen; D Wu; M Wu; A Xia; A Zandieh; X Zhu
Journal:  Science       Date:  2001-02-16       Impact factor: 47.728

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  30 in total

1.  Rare variant APOC3 R19X is associated with cardio-protective profiles in a diverse population-based survey as part of the Epidemiologic Architecture for Genes Linked to Environment Study.

Authors:  Dana C Crawford; Logan Dumitrescu; Robert Goodloe; Kristin Brown-Gentry; Jonathan Boston; Bob McClellan; Cara Sutcliffe; Rachel Wiseman; Paxton Baker; Margaret A Pericak-Vance; William K Scott; Melissa Allen; Ping Mayo; Nathalie Schnetz-Boutaud; Holli H Dilks; Jonathan L Haines; Toni I Pollin
Journal:  Circ Cardiovasc Genet       Date:  2014-11-01

Review 2.  Leprosy as a genetic disease.

Authors:  Andrea Alter; Audrey Grant; Laurent Abel; Alexandre Alcaïs; Erwin Schurr
Journal:  Mamm Genome       Date:  2010-10-09       Impact factor: 2.957

3.  Comparison of linkage disequilibrium patterns between the HapMap CEPH samples and a family-based cohort of Northern European descent.

Authors:  E M Smith; X Wang; J Littrell; J Eckert; R Cole; A H Kissebah; M Olivier
Journal:  Genomics       Date:  2006-05-19       Impact factor: 5.736

4.  The portability of tagSNPs across populations: a worldwide survey.

Authors:  Anna González-Neira; Xiayi Ke; Oscar Lao; Francesc Calafell; Arcadi Navarro; David Comas; Howard Cann; Suzannah Bumpstead; Jilur Ghori; Sarah Hunt; Panos Deloukas; Ian Dunham; Lon R Cardon; Jaume Bertranpetit
Journal:  Genome Res       Date:  2006-02-08       Impact factor: 9.043

5.  The SNPlex genotyping system: a flexible and scalable platform for SNP genotyping.

Authors:  Andreas R Tobler; Sabine Short; Mark R Andersen; Teodoro M Paner; Jason C Briggs; Stephen M Lambert; Priscilla P Wu; Yiwen Wang; Alexander Y Spoonde; Ryan T Koehler; Nicolas Peyret; Caifu Chen; Adam J Broomer; Dana A Ridzon; Hui Zhou; Bradley S Hoo; Kathleen C Hayashibara; Lilley N Leong; Congcong N Ma; Barnet B Rosenblum; Joseph P Day; Janet S Ziegle; Francisco M De La Vega; Michael D Rhodes; Kevin M Hennessy; H Michael Wenz
Journal:  J Biomol Tech       Date:  2005-12

6.  Comparison of ENCODE region SNPs between Cebu Filipino and Asian HapMap samples.

Authors:  Amanda F Marvelle; Leslie A Lange; Li Qin; Yunfei Wang; Ethan M Lange; Linda S Adair; Karen L Mohlke
Journal:  J Hum Genet       Date:  2007-07-18       Impact factor: 3.172

7.  Pronounced inter- and intrachromosomal variation in linkage disequilibrium across the zebra finch genome.

Authors:  Jessica Stapley; Tim R Birkhead; Terry Burke; Jon Slate
Journal:  Genome Res       Date:  2010-03-31       Impact factor: 9.043

8.  A first-generation metric linkage disequilibrium map of bovine chromosome 6.

Authors:  Mehar S Khatkar; Andrew Collins; Julie A L Cavanagh; Rachel J Hawken; Matthew Hobbs; Kyall R Zenger; Wes Barris; Alexander E McClintock; Peter C Thomson; Frank W Nicholas; Herman W Raadsma
Journal:  Genetics       Date:  2006-07-02       Impact factor: 4.562

9.  Visualizing chromosome mosaicism and detecting ethnic outliers by the method of "rare" heterozygotes and homozygotes (RHH).

Authors:  Ralph E McGinnis; Panos Deloukas; William M McLaren; Michael Inouye
Journal:  Hum Mol Genet       Date:  2010-03-08       Impact factor: 6.150

10.  High differentiation among eight villages in a secluded area of Sardinia revealed by genome-wide high density SNPs analysis.

Authors:  Giorgio Pistis; Ignazio Piras; Nicola Pirastu; Ivana Persico; Alessandro Sassu; Andrea Picciau; Dionigio Prodi; Cristina Fraumene; Evelina Mocci; Maria Teresa Manias; Rossano Atzeni; Massimiliano Cosso; Mario Pirastu; Andrea Angius
Journal:  PLoS One       Date:  2009-02-27       Impact factor: 3.240

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