title: Single-nucleotide polymorphisms in the interleukin-10 gene: differences in frequencies, linkage disequilibrium patterns, and haplotypes in three United States ethnic groups.
abstract: 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.
authors.affiliation: Channing Laboratory, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts 02115, USA. rerla@channing.harvard.edu
authors.forename: Ross
authors.initials: R
authors.lastname: Lazarus
authors.forename: Walter T
authors.initials: WT
authors.lastname: Klimecki
authors.forename: Lyle J
authors.initials: LJ
authors.lastname: Palmer
authors.forename: David J
authors.initials: DJ
authors.lastname: Kwiatkowski
authors.forename: Edwin K
authors.initials: EK
authors.lastname: Silverman
authors.forename: Alison
authors.initials: A
authors.lastname: Brown
authors.forename: Fernando
authors.initials: F
authors.lastname: Martinez
authors.forename: Scott T
authors.initials: ST
authors.lastname: Weiss
mesh_terms: D001499:Bayes Theorem; D044383:Black People / Q000145:classification; D005787:Gene Frequency; D006239:Haplotypes; D006630:Hispanic or Latino / Q000235:genetics; D006801:Humans; D016753:Interleukin-10 / Q000235:genetics*; D015810:Linkage Disequilibrium; D020641:Polymorphism, Single Nucleotide; D014481:United States; D044465:White People / Q000235:genetics; D001741:Black or African American
chemical_list: D016753:Interleukin-10