KIR diversity in three ethnic minority populations in China.

Qiongxiu Zhou,Xiaojuan Li,Song Mao,Feng Ma,Guohui Bian,Jue Wang,Zhi He,Shu Huang

doi:10.1186/s12967-015-0544-7

Abstract

BackgroundKiller cell immunoglobulin-like receptors (KIRs) show extensive variation in genetic content and allelic polymorphi sms among different populations.Materials and methodsWe analyzed the distribution of KIR genes in the Tibetan ethnic minority of Lhasa city, the Uyghur and Kazakh ethnic minorities of Urumqi city populations in China. Genotyping of 16 KIR genes was tested in 479 randomly selected individuals using the multiple PCR-SSP method.ResultsA total of 42 KIR genotypes were detected, of which, 29 were predicted to be AB genotypes, 12 were BB genotypes and one was AA genotypes. 27 KIR genotypes were identified in Kazakhs, 30 KIR genotypes were identified in Uyghurs and 20 KIR genotypes were identified in Tibetans. The predominant genotype 1(AA genotypes) occurred most frequently in Tibetans (52.7%, 118/224), Kazakhs (43.2%, 54/125) and Uyghurs (34.9%, 45/130). Not only the four framework genes were present in all individuals, but the pseudogene 2DP1 could also be detected in all Uyghur individuals. Tibetans were different from Kazakh and Uyghur groups in KIR genetic content and KIR allelic variation. Intriguingly, Tibetans (29.5%, 66/224) had lower frequencies of 2DS4-v when compared with Uyghurs (60.8%, 79/130) and Kazakh s (59.2%, 74/125). Uyghurs (25.4%, 33/130) displayed higher frequencies of Bx genotypes with C4Tx (absence of KIR3DS1-2DL5-2DS5-2DS1) than both Kazakhs (11.2%, 14/125) and Tibetans (3.6%, 8/224).ConclusionsThe study showed that profile of KIR genotypes in three ethnic minority populations in China displayed ethnic diversity. It could be valuable for enriching the ethnical information resources for KIR gene, as well as facilitating further research on KIR-related diseases.Electronic supplementary materialThe online version of this article (doi:10.1186/s12967-015-0544-7) contains supplementary material, which is available to authorized users.

Highlights

Killer cell immunoglobulin-like receptors (KIRs) show extensive variation in genetic content and allelic polymorphisms among different populations
The study showed that profile of KIR genotypes in three ethnic minority populations in China displayed ethnic diversity
27 KIR genotypes were identified in Kazakhs, 30 KIR genotypes were identified in Uyghurs and 20 KIR genotypes were identified in Tibetans

Summary

Introduction

Killer cell immunoglobulin-like receptors (KIRs) show extensive variation in genetic content and allelic polymorphisms among different populations. Killer cell immunoglobulin-like receptors (KIRs) are a group of glycoproteins expressed on the surface of Natural killer (NK) cells [1, 2]. Fourteen functional KIR genes have been identified and confirmed, of which seven are inhibitory (KIR2DL1-3, 2DL5 and 3DL1-3) and six are activating (KIR2DS1-5 and 3DS1), with only KIR2DL4 showing both inhibitory and activating potential [1, 5, 21]. According to the numbers and types, KIR haplotypes are broadly classified into two groups: group A haplotypes have a fixed KIR gene (2DL1, 2DL3-4, 3DL1-3, 2DS4, 2DP1 and 3DP1), in contrast, group B haplotypes have variations in genetic content which is comprised of several genes and alleles that are not found in A haplotypes.

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