The profile of KIR3DL1 and KIR3DS1 alleles in an African American population resembles that found in African populations

Abstract

KIR3DL1 and KIR3DS1 allele frequencies were determined by DNA sequencing of the complete coding regions from 100 random unrelated African Americans. Alleles 3DL1 *01501 (29 individuals) and 3DL1*01502 (23 individuals) were most frequently observed in addition to 21 other known alleles and seven new alleles: KIR3DL1*01503, *03102, *064, *065, *066, *067, and *068. Two of the new alleles (KIR3DL1*064, *065) created additional variants of the chimeric KIR3DL1/KIR3DL2 gene. KIR3DS1*01301 (94% of the gene positive individuals) and KIR3DS1*049N (11%) were identified in the 18 individuals carrying this gene. Three individuals appeared to carry a KIR haplotype with a KIR3DL1/S1 duplication. The profile of alleles resembles that found in African populations but also shows signs of admixture.

Allelic diversity of KIR3DL1/3DS1 in a southern Chinese population

“…The distribution of KIR3DL1 alleles in the study population resembled that previously reported in Japanese (16) and Chinese Han population in Zhejiang province (29). KIR3DL1*01502 was the most common allele in Chinese Han and Japanese populations with a frequency of more than 60%, which was significantly higher than in Irish (14.3%) (14) and African Americans (23%) (15). Other alleles also showed the similar distribution in the study southern Chinese and Japanese populations in the order of KIR3DL1*00501>3DL1*00701>3DL1*00101>3DL1*020.…”

“…In sharp contrast to the highly diversified KIR3DL1 the polymorphism of 3DS1 is rather conserved. In fact most populations share the same predominant KIR3DS1 allele: KIR3DS1*01301 (14,15,16,17). The present study also identified KIR3DS1*01301 as the predominant KIR3DS1 allele in southern Chinese.…”

“…African Americans showed a particularly high level of KIR3DL1/3DS1 diversity with a total of 29 KIR3DL1 alleles (including 7 novel ones) detected by Jiang B et al (15). Seven of the 29 alleles detected in African Americans had a frequency of > 10% but 4 of the 7 common ones including the most common KIR3DL1*01501 were absent in the study Chinese Han population.…”

“…Since KIR3DL1 and KIR3DS1 have extra diversity in haplotypic content and copy number variation in addition to allelic diversification, allele identified in homozygous KIR3DL1 or KIR3DS1 genotype will be counted only once regardless of the haplotypic content and copy number variation; whereas for heterozygous 3DL1 or 3DS1, each allele will be counted once respectively, as described in previous studies (14,15).…”

“…The inhibitory KIR3DL1 is highly polymorphic with at least 99 alleles identified so far. KIR3DS1, on the other hand, is rather homogenous with KIR3DS1*01301 as the predominant allele (14,15,16,17) though a total of 30 KIR3DS1 alleles have been released in the IPD-KIR Database (http: //www.ebi.ac.uk/ipd/kir/align.html, Release 2.6.0) (13).…”