Skip to main content
Journal cover image

KIR genotypic diversity can track ancestries in heterogeneous populations: a potential confounder for disease association studies.

Publication ,  Journal Article
Singh, KM; Phung, YT; Kohla, MS; Lan, BY-A; Chan, S; Suen, DL; Murad, S; Rheault, S; Davidson, P; Evans, J; Singh, M; Dohil, S; Osorio, RW ...
Published in: Immunogenetics
February 2012

Killer cell immunoglobulin-like receptors (KIR) are encoded by highly polymorphic genes that regulate the activation of natural killer (NK) cells and other lymphocyte subsets and likely play key roles in innate and adaptive immunity. Association studies increasingly implicate KIR in disease predisposition and outcome but could be confounded by unknown KIR genetic structure in heterogeneous populations. To examine this, we characterized the diversity of 16 KIR genes in 712 Northern Californians (NC) stratified by self-assigned ethnicities and compared the profiles of KIR polymorphism with other US and global populations using a reference database. Sixty-eight distinct KIR genotypes were characterized: 58 in 457 Caucasians (NCC), 17 in 47 African Americans (NCAA), 21 in 80 Asians (NCA), 20 in 74 Hispanics (NCH), and 18 in 54 "other" ethnicities (NCO). KIR genotype patterns and frequencies in the 4 defined ethnicities were compared with each other and with 34 global populations by phylogenetic analysis. Although there were no population-specific genotypes, the KIR genotype frequency patterns faithfully traced the ancestry of NCC, NCAA, and NCA but not of NCH whose ancestries are known to be more heterogeneous. KIR genotype frequencies can therefore track ethnic ancestries in modern urban populations. Our data emphasize the importance of selecting ethnically matched controls in KIR-based studies to avert spurious associations.

Duke Scholars

Published In

Immunogenetics

DOI

EISSN

1432-1211

Publication Date

February 2012

Volume

64

Issue

2

Start / End Page

97 / 109

Location

United States

Related Subject Headings

  • White People
  • Receptors, KIR
  • Polymorphism, Genetic
  • Phylogeny
  • Immunology
  • Humans
  • Haplotypes
  • Genetic Association Studies
  • Gene Frequency
  • California
 

Citation

APA
Chicago
ICMJE
MLA
NLM
Singh, K. M., Phung, Y. T., Kohla, M. S., Lan, B.-A., Chan, S., Suen, D. L., … Cooper, S. L. (2012). KIR genotypic diversity can track ancestries in heterogeneous populations: a potential confounder for disease association studies. Immunogenetics, 64(2), 97–109. https://doi.org/10.1007/s00251-011-0569-x
Singh, Komal Manpreet, Yume T. Phung, Mohamed S. Kohla, Billy Y-A Lan, Sharon Chan, Diana L. Suen, Sahar Murad, et al. “KIR genotypic diversity can track ancestries in heterogeneous populations: a potential confounder for disease association studies.Immunogenetics 64, no. 2 (February 2012): 97–109. https://doi.org/10.1007/s00251-011-0569-x.
Singh KM, Phung YT, Kohla MS, Lan BY-A, Chan S, Suen DL, et al. KIR genotypic diversity can track ancestries in heterogeneous populations: a potential confounder for disease association studies. Immunogenetics. 2012 Feb;64(2):97–109.
Singh, Komal Manpreet, et al. “KIR genotypic diversity can track ancestries in heterogeneous populations: a potential confounder for disease association studies.Immunogenetics, vol. 64, no. 2, Feb. 2012, pp. 97–109. Pubmed, doi:10.1007/s00251-011-0569-x.
Singh KM, Phung YT, Kohla MS, Lan BY-A, Chan S, Suen DL, Murad S, Rheault S, Davidson P, Evans J, Singh M, Dohil S, Osorio RW, Wakil AE, Page K, Feng S, Cooper SL. KIR genotypic diversity can track ancestries in heterogeneous populations: a potential confounder for disease association studies. Immunogenetics. 2012 Feb;64(2):97–109.
Journal cover image

Published In

Immunogenetics

DOI

EISSN

1432-1211

Publication Date

February 2012

Volume

64

Issue

2

Start / End Page

97 / 109

Location

United States

Related Subject Headings

  • White People
  • Receptors, KIR
  • Polymorphism, Genetic
  • Phylogeny
  • Immunology
  • Humans
  • Haplotypes
  • Genetic Association Studies
  • Gene Frequency
  • California