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KIR haplotypes defined by segregation analysis in 59 Centre d’Etude Polymorphisme Humain (CEPH) families

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An Erratum to this article was published on 09 December 2008

Abstract

The killer cell immunoglobulin-like receptor (KIR) gene cluster exhibits extensive allelic and haplotypic diversity. Variation at the locus is associated with an increasing number of human diseases, reminiscent of the HLA loci. Characterization of diversity at the KIR locus has progressed over the past several years, particularly since the sequence of entire KIR haplotypes have become available. To determine the extent of KIR haplotypic variability among individuals of northern European descent, we genotyped 59 CEPH families for presence/absence of all KIR genes and performed limited allelic subtyping at several KIR loci. A total of 20 unique haplotypes differing in gene content were identified, the most common of which was the previously defined A haplotype (f = 0.52). Several unusual haplotypes that probably arose as a consequence of unequal crossing over events were also identified. Linkage disequilibrium (LD) analysis indicated strong negative and positive LD between several pairs of genes, values that may be useful in determining haplotypic structure when family data are not available. These data provide a resource to aid in the interpretation of disease association data involving individuals of European descent.

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Fig. 1

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Acknowledgments

This project has been funded in whole or in part with federal funds from the National Cancer Institute, National Institutes of Health, under contract N01-CO-12400. The content of this publication does not necessarily reflect the views or policies of the Department of Health and Human Services nor does mention of trade names, commercial products, or organizations imply endorsement by the US Government. This Research was supported in part by the Intramural Research Program of the NIH, National Cancer Institute, Center for Cancer Research. This publication was supported in part by NIH/NIAID contract number HHSN266200400076C, ABD N01-AI-40076 (R.M.S). Its contents are solely the responsibility of the authors and do not necessarily represent the official views of the NIH. The computational resources provided by the Vermont Advanced Computing Center which is supported by NASA (NNX 06AC88G) are gratefully acknowledged. J.T. and M.W. were supported by grants from MRC and Wellcome. We thank Arman Bashirova for her assistance with Fig. 1.

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Authors and Affiliations

  1. Cancer and Inflammation Program, Laboratory of Experimental Immunology, SAIC-Frederick, Inc, NCI-Frederick, Frederick, MD, 21702, USA

    M. P. Martin & M. Carrington

  2. Department of Mathematics and Statistics, University of Vermont, Burlington, VT, 05405, USA

    R. M. Single

  3. CSL Limited, Bio21 Institute, Parkville, Victoria, 3010, Australia

    M. J. Wilson

  4. Immunology Division, Department of Pathology, University of Cambridge, Tennis Court Road, Cambridge, CB2 1QP, UK

    J. Trowsdale

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  1. M. P. Martin
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  2. R. M. Single
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  3. M. J. Wilson
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  4. J. Trowsdale
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  5. M. Carrington
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Correspondence to M. Carrington.

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An erratum to this article can be found at http://dx.doi.org/10.1007/s00251-008-0345-8

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Martin, M.P., Single, R.M., Wilson, M.J. et al. KIR haplotypes defined by segregation analysis in 59 Centre d’Etude Polymorphisme Humain (CEPH) families. Immunogenetics 60, 767–774 (2008). https://doi.org/10.1007/s00251-008-0334-y

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