Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

A common inversion under selection in Europeans

Hreinn Stefansson et al. Nat Genet. 2005 Feb.

Abstract

A refined physical map of chromosome 17q21.31 uncovered a 900-kb inversion polymorphism. Chromosomes with the inverted segment in different orientations represent two distinct lineages, H1 and H2, that have diverged for as much as 3 million years and show no evidence of having recombined. The H2 lineage is rare in Africans, almost absent in East Asians but found at a frequency of 20% in Europeans, in whom the haplotype structure is indicative of a history of positive selection. Here we show that the H2 lineage is undergoing positive selection in the Icelandic population, such that carrier females have more children and have higher recombination rates than noncarriers.

PubMed Disclaimer

Comment in

Similar articles

Cited by

  • Evaluation of Parkinson disease risk variants as expression-QTLs.
    Latourelle JC, Dumitriu A, Hadzi TC, Beach TG, Myers RH. Latourelle JC, et al. PLoS One. 2012;7(10):e46199. doi: 10.1371/journal.pone.0046199. Epub 2012 Oct 5. PLoS One. 2012. PMID: 23071545 Free PMC article.
  • Five years of GWAS discovery.
    Visscher PM, Brown MA, McCarthy MI, Yang J. Visscher PM, et al. Am J Hum Genet. 2012 Jan 13;90(1):7-24. doi: 10.1016/j.ajhg.2011.11.029. Am J Hum Genet. 2012. PMID: 22243964 Free PMC article. Review.
  • Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk.
    Couch FJ, Wang X, McGuffog L, Lee A, Olswold C, Kuchenbaecker KB, Soucy P, Fredericksen Z, Barrowdale D, Dennis J, Gaudet MM, Dicks E, Kosel M, Healey S, Sinilnikova OM, Lee A, Bacot F, Vincent D, Hogervorst FB, Peock S, Stoppa-Lyonnet D, Jakubowska A; kConFab Investigators; Radice P, Schmutzler RK; SWE-BRCA; Domchek SM, Piedmonte M, Singer CF, Friedman E, Thomassen M; Ontario Cancer Genetics Network; Hansen TV, Neuhausen SL, Szabo CI, Blanco I, Greene MH, Karlan BY, Garber J, Phelan CM, Weitzel JN, Montagna M, Olah E, Andrulis IL, Godwin AK, Yannoukakos D, Goldgar DE, Caldes T, Nevanlinna H, Osorio A, Terry MB, Daly MB, van Rensburg EJ, Hamann U, Ramus SJ, Toland AE, Caligo MA, Olopade OI, Tung N, Claes K, Beattie MS, Southey MC, Imyanitov EN, Tischkowitz M, Janavicius R, John EM, Kwong A, Diez O, Balmaña J, Barkardottir RB, Arun BK, Rennert G, Teo SH, Ganz PA, Campbell I, van der Hout AH, van Deurzen CH, Seynaeve C, Gómez Garcia EB, van Leeuwen FE, Meijers-Heijboer HE, Gille JJ, Ausems MG, Blok MJ, Ligtenberg MJ, Rookus MA, Devilee P, Verhoef S, van Os TA, Wijnen JT; HEBON; EMBRACE; Frost D, Ellis S, Fineberg E, Platte R, Evans DG, Izatt L, Eeles RA, Adlard J, Eccles DM, Cook J,… See abstract for full author list ➔ Couch FJ, et al. PLoS Genet. 2013;9(3):e1003212. doi: 10.1371/journal.pgen.1003212. Epub 2013 Mar 27. PLoS Genet. 2013. PMID: 23544013 Free PMC article.
  • Predicting inhaled corticosteroid response in asthma with two associated SNPs.
    McGeachie MJ, Wu AC, Chang HH, Lima JJ, Peters SP, Tantisira KG. McGeachie MJ, et al. Pharmacogenomics J. 2013 Aug;13(4):306-11. doi: 10.1038/tpj.2012.15. Epub 2012 May 29. Pharmacogenomics J. 2013. PMID: 22641026 Free PMC article.
  • Analysis of Natural Selection of Immune Genes in Spinibarbus caldwelli by Transcriptome Sequencing.
    Tuo Y, Chu W, Zhang J, Cheng J, Chen L, Bao L, Xiao T. Tuo Y, et al. Front Genet. 2020 Jul 24;11:714. doi: 10.3389/fgene.2020.00714. eCollection 2020. Front Genet. 2020. PMID: 32793279 Free PMC article.

Associated data

LinkOut - more resources