title: Diversity of killer cell immunoglobulin-like receptor genes in Pacific Islands populations.
abstract: Killer immunoglobulin-like receptors (KIRs) regulate the activity of NK and T cells through interaction with specific HLA class I molecules on target cells. To date, 16 KIR genes and pseudogenes have been identified. Diversity in KIR gene content and KIR allelic and haplotype polymorphism has been observed between different ethnic groups. Here, we present data on the KIR gene distribution in Pacific Islands populations. Sixteen KIR genes were observed in Pacific Islands populations from the Cook Islands, Samoa, Tokelau, and Tonga. The majority of KIR genes were present at similar frequencies between the four populations with KIR2DL4, KIR3DL2, and KIR3DP1 genes observed in all individuals. Commonly observed KIR genes in Pacific Islands populations (pooled frequencies) were KIR2DL1 (0.77), KIR2DL3 (0.77), KIR3DL1 (0.65), KIR3DL3 (0.93), KIR2DS4/1D (0.78), and KIR2DP1 (0.82), compared to the less-frequently observed KIR2DL2 (0.27), KIR2DL5 (0.30), KIR2DS1 (0.19), KIR2DS2 (0.27), KIR2DS3 (0.16), KIR2DS5 (0.17), and KIR3DS1 (0.18) genes. Differences in KIR gene frequency distributions were observed between the Pacific Islands populations and when compared to other populations. Sixty-nine different genotypes were identified, with five genotypes accounting for more then 50% of all genotypes observed. The number of genotypes observed in each population was similar in the Cook Islands, Samoan, and Tokelauan populations (19, 18, and 19, respectively), but 26 different genotypes were observed in Tongans. The putative haplotype A was predominantly observed over haplotype B in all Pacific Islands populations. Significant linkage disequilibrium was observed for a number of KIR gene pairs.
authors.affiliation: Molecular Genetics Section, Tissue Typing, Australian Red Cross Blood Service, 153 Clarence Street, Sydney, NSW 2000, Australia. mvelickovic@arcbs.redcross.org.au
authors.forename: Marija
authors.initials: M
authors.lastname: Velickovic
authors.forename: Zlatibor
authors.initials: Z
authors.lastname: Velickovic
authors.forename: Heather
authors.initials: H
authors.lastname: Dunckley
mesh_terms: D006801:Humans; D005787:Gene Frequency; D005838:Genotype; D006239:Haplotypes; D007694:Killer Cells, Natural / Q000276:immunology; D015810:Linkage Disequilibrium; D011110:Polymorphism, Genetic; D011114:Polynesia; D011544:Pseudogenes; D011971:Receptors, Immunologic / Q000235:genetics; D054340:Receptors, KIR; D054342:Receptors, KIR2DL1; D054343:Receptors, KIR2DL2; D054344:Receptors, KIR2DL3; D054345:Receptors, KIR2DL4; D054341:Receptors, KIR3DL1; D054347:Receptors, KIR3DL2; D054349:Receptors, KIR3DS1; D000095188:Pacific Island People
chemical_list: C515077:KIR2DL2 protein, human; C515078:KIR2DL3 protein, human; C515079:KIR2DL4 protein, human; C515083:KIR3DL1 protein, human; C515084:KIR3DL2 protein, human; D011971:Receptors, Immunologic; D054340:Receptors, KIR; D054342:Receptors, KIR2DL1; D054343:Receptors, KIR2DL2; D054344:Receptors, KIR2DL3; D054345:Receptors, KIR2DL4; D054341:Receptors, KIR3DL1; D054347:Receptors, KIR3DL2; D054349:Receptors, KIR3DS1