Immunogenetics

, Volume 58, Issue 5, pp 474–480

High KIR diversity in Amerindians is maintained using few gene-content haplotypes

  • Ketevan Gendzekhadze
  • Paul J. Norman
  • Laurent Abi-Rached
  • Zulay Layrisse
  • Peter Parham
Brief Communication

DOI: 10.1007/s00251-006-0108-3

Cite this article as:
Gendzekhadze, K., Norman, P.J., Abi-Rached, L. et al. Immunogenetics (2006) 58: 474. doi:10.1007/s00251-006-0108-3

Abstract

Interaction between killer cell immunoglobulin-like receptors (KIR) and cognate HLA class I ligands influences the innate and adaptive immune response to infection. The KIR family varies in gene content and allelic polymorphism, thereby, distinguishing individuals and populations. KIR gene content was determined for 230 individuals from three Amerindian tribes from Venezuela: the Yucpa, Bari and Warao. Gene-content haplotypes could be assigned to 212 individuals (92%) because only five different haplotypes were present—group A and four group B. Six different haplotype combinations accounted for >80% of individuals. Each tribe has distinctive genotype frequencies. Despite few haplotypes, all 14 KIR genes are at high frequency in the three tribes, with the exception of 2DS3. Each population has an even frequency of group A and B haplotypes. Allele-level analysis of 3DL1/S1 distinguished five group A haplotypes and six group B haplotypes. The high frequency and divergence of the KIR haplotypes in the Amerindian tribes provide greater KIR diversity than is present in many larger populations. An extreme case being the Yucpa, for whom two gene-content haplotypes account for >90% of the population. These comprise the group A haplotype and a group B haplotype containing all the KIR genes, except 2DS3, that typify the group B haplotypes. Here is clear evidence for balancing selection on the KIR system and the biological importance of both A and B haplotypes for the survival of human populations.

Keywords

KIR haplotypes KIR locus genotypes Amerindians Balancing selection 

Supplementary material

251_2006_108_MOESM1_ESM.gif (217 kb)
Fig. S1

Linkage Disequilibrium (LD) Parameters for pairs of KIR loci in Amerindians. LD for two-locus associations from unknown gametic phase calculated according to (Mattiuz et al, 1971). Δ - linkage disequilibrium parameter, r - relative linkage disequilibrium, h - two-locus haplotype frequency (≥0.02), p - observed vs expected haplotype frequency (Yates' test)

251_2006_108_MOESM2_ESM.gif (104 kb)
Fig. S2

Frequencies of HLA-B, C and KIR-HLA (ligand-receptor pairing) combinations in Amerindians (Yucpa and Bari)

Copyright information

© Springer-Verlag 2006

Authors and Affiliations

  • Ketevan Gendzekhadze
    • 1
    • 2
  • Paul J. Norman
    • 1
  • Laurent Abi-Rached
    • 1
  • Zulay Layrisse
    • 2
  • Peter Parham
    • 1
    • 3
  1. 1.Department of Structural BiologyStanford University School of MedicineStanfordUSA
  2. 2.Lab. PhysiopathologyExperimental Medicine “Miguel Layrisse” Venezuelan Research Institute (IVIC)CaracasVenezuela
  3. 3.Department of Structural Biology and Immunology and MicrobiologyStanford UniversityStanfordUSA