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Natural killer cell immunoglobulin-like receptor (KIR) locus profiles in African and South Asian populations

Abstract

Natural killer (NK) and some T cells express killer cell immunoglobulin-like receptors (KIRs), which interact with HLA class I expressed by target cells and consequently regulate cytolytic activity. The number of KIR loci can vary and so a range of genetic profiles is observed. We have determined the KIR genetic profiles from one African (n = 62) and two South Asian (n = 108, n = 78) populations. Several of the KIRs are present at significantly different frequencies between the two major ethnic groups (eg KIR2DS4 gene frequency 0.82 African, 0.47 S Asian. Pc < 1 × 10−6) and this is due to uneven distribution of two KIR haplotype families ‘A’ and ‘B’. All three populations described here displayed a greater degree of diversity of KIR genetic profiles than other populations investigated, which indicates further complexity of underlying haplotypes; in this respect we describe two individuals who appear homozygous for a large deletion including the previously ubiquitous 2DL4. We have also reanalysed three populations that we studied previously, for the presence of a KIR which is now known to be an indicator of the ‘B’ haplotype. South Asians had the highest overall frequencies of all KIR loci characteristic of ‘B’ haplotypes (Pc < 0.0001 to < 0.004). Furthermore, gene frequency independent deviances in the linkage disequilibrium were apparent between populations.

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Acknowledgements

We are very grateful to the staff at Mount Hope Women’s Hospital in Trinidad and the Aga Khan University Hospital of Karachi. We thank the members of Stanford University Structural Biology department for their comments. The work reported here was performed in accordance with all appropriate regulations.

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Correspondence to P J Norman.

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We thank the University of West Indies, St Augustine Campus Research and Publications committee and Caribbean Health Research Council for funding the Trinidad sample collection. C V F Carrington's visit to Guy's Hospital was initially supported by a Rhodes Trust grant. Ethical approval was obtained from the Ethics Committee of the Faculty of Medical Sciences, University of West Indies.

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Norman, P., Carrington, C., Byng, M. et al. Natural killer cell immunoglobulin-like receptor (KIR) locus profiles in African and South Asian populations. Genes Immun 3, 86–95 (2002). https://doi.org/10.1038/sj.gene.6363836

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