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

Genomics. 2002 Aug;80(2):223-8. doi: 10.1006/geno.2002.6820.


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.

Publication types

  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • African Continental Ancestry Group / classification
  • Bayes Theorem
  • European Continental Ancestry Group / genetics
  • Gene Frequency*
  • Haplotypes
  • Hispanic Americans / genetics
  • Humans
  • Interleukin-10 / genetics*
  • Linkage Disequilibrium*
  • Polymorphism, Single Nucleotide*
  • United States


  • Interleukin-10