Single-nucleotide polymorphisms in the interleukin-10 gene: Differences in frequencies, linkage disequilibrium patterns, and haplotypes in three United States ethnic groups

Ross Lazarus, Walter Klimecki, Lyle J. Palmer, David J. Kwiatkowski, Edwin K. Silverman, Alison Brown, Fernando Martinez, Scott T. Weiss

Research output: Contribution to journalArticle

59 Scopus citations


Interleukin-10 (IL-10) is a cytokine that seems to function as a downregulator of the innate (nonadaptive) immune system. Approximately three-quarters of interindividual variability in human IL-10 levels has been attributed to genetic variation, and there is evidence suggesting a potential role for IL-10 in a range of human diseases. To provide a basis for haplotype analysis and future disease association studies, we characterized genetic variation in IL10 by sequencing all exons, and 2.5 kb of the 5′- and the 3′-flanking region in a panel of DNA samples from 24 African Americans, 23 European Americans, and 24 Hispanic Americans. The region sequenced was found to contain 28 single-nucleotide polymorphisms (SNPs), 16 with frequency > 2% and 14 with frequency > 5%. All SNPs with frequency > 5% were present in subjects from all three populations. No SNP caused amino acid changes. Differences in pairwise linkage-disequilibrium (LD) patterns and in SNP and haplotype frequency distributions among the three populations may be of potential importance for disease association studies.

Original languageEnglish (US)
Pages (from-to)223-228
Number of pages6
Issue number2
Publication statusPublished - 2002



  • Haplotype
  • IL-10
  • Interleukin-10
  • Linkage disquilibrium
  • Self-identified race
  • SNP

ASJC Scopus subject areas

  • Genetics

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