Haplotype blocks and linkage disequilibrium in the human genome - PubMed

Affiliations

• PMID: 12897771
• DOI: 10.1038/nrg1123

Review

Haplotype blocks and linkage disequilibrium in the human genome

Jeffrey D Wall et al. Nat Rev Genet. 2003 Aug.

Abstract

There is great interest in the patterns and extent of linkage disequilibrium (LD) in humans and other species. Characterizing LD is of central importance for gene-mapping studies and can provide insights into the biology of recombination and human demographic history. Here, we review recent developments in this field, including the recently proposed 'haplotype-block' model of LD. We describe some of the recent data in detail and compare the observed patterns to those seen in simulations.

Similar articles

• Recombination hotspots and block structure of linkage disequilibrium in the human genome exemplified by detailed analysis of PGM1 on 1p31.

  Rana NA, Ebenezer ND, Webster AR, Linares AR, Whitehouse DB, Povey S, Hardcastle AJ. Rana NA, et al. Hum Mol Genet. 2004 Dec 15;13(24):3089-102. doi: 10.1093/hmg/ddh337. Epub 2004 Oct 27. Hum Mol Genet. 2004. PMID: 15509594

• Haplotype-specific linkage disequilibrium patterns define the genetic topography of the human MHC.

  Ahmad T, Neville M, Marshall SE, Armuzzi A, Mulcahy-Hawes K, Crawshaw J, Sato H, Ling KL, Barnardo M, Goldthorpe S, Walton R, Bunce M, Jewell DP, Welsh KI. Ahmad T, et al. Hum Mol Genet. 2003 Mar 15;12(6):647-56. Hum Mol Genet. 2003. PMID: 12620970

• A worldwide survey of haplotype variation and linkage disequilibrium in the human genome.

  Conrad DF, Jakobsson M, Coop G, Wen X, Wall JD, Rosenberg NA, Pritchard JK. Conrad DF, et al. Nat Genet. 2006 Nov;38(11):1251-60. doi: 10.1038/ng1911. Epub 2006 Oct 22. Nat Genet. 2006. PMID: 17057719

• Navigating the HapMap.

  Barnes MR. Barnes MR. Brief Bioinform. 2006 Sep;7(3):211-24. doi: 10.1093/bib/bbl021. Epub 2006 Jul 28. Brief Bioinform. 2006. PMID: 16877472 Review.

• Patterns of linkage disequilibrium in the human genome.

  Ardlie KG, Kruglyak L, Seielstad M. Ardlie KG, et al. Nat Rev Genet. 2002 Apr;3(4):299-309. doi: 10.1038/nrg777. Nat Rev Genet. 2002. PMID: 11967554 Review.

Cited by

• Broad-scale variation in human genetic diversity levels is predicted by purifying selection on coding and non-coding elements.

  Murphy DA, Elyashiv E, Amster G, Sella G. Murphy DA, et al. Elife. 2023 Jun 23;12:e76065. doi: 10.7554/eLife.76065. Elife. 2023. PMID: 36196994 Free PMC article.

• Genes with a Combination of Over-Dominant and Epistatic Effects Underlie Heterosis in Growth of Saccharomyces cerevisiae at High Temperature.

  Shapira R, David L. Shapira R, et al. Front Genet. 2016 May 4;7:72. doi: 10.3389/fgene.2016.00072. eCollection 2016. Front Genet. 2016. PMID: 27200081 Free PMC article.

• Five glutathione s-transferase gene variants in 23,452 cases of lung cancer and 30,397 controls: meta-analysis of 130 studies.

  Ye Z, Song H, Higgins JP, Pharoah P, Danesh J. Ye Z, et al. PLoS Med. 2006 Apr;3(4):e91. doi: 10.1371/journal.pmed.0030091. Epub 2006 Mar 7. PLoS Med. 2006. PMID: 16509765 Free PMC article.

• Demographic history differences between Hispanics and Brazilians imprint haplotype features.

  da Cruz PRS, Ananina G, Secolin R, Gil-da-Silva-Lopes VL, Lima CSP, de França PHC, Donatti A, Lourenço GJ, de Araujo TK, Simioni M, Lopes-Cendes I, Costa FF, de Melo MB. da Cruz PRS, et al. G3 (Bethesda). 2022 Jul 6;12(7):jkac111. doi: 10.1093/g3journal/jkac111. G3 (Bethesda). 2022. PMID: 35511163 Free PMC article.

• Bayesian association-based fine mapping in small chromosomal segments.

  Sillanpää MJ, Bhattacharjee M. Sillanpää MJ, et al. Genetics. 2005 Jan;169(1):427-39. doi: 10.1534/genetics.104.032680. Epub 2004 Sep 15. Genetics. 2005. PMID: 15371355 Free PMC article.

Publication types

MeSH terms

LinkOut - more resources

• Full Text Sources

  • Nature Publishing Group
  • Silverchair Information Systems

• Other Literature Sources

  • The Lens - Patent Citations Database

• Research Materials

  • NCI CPTC Antibody Characterization Program