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The frequency of an IL-18-associated haplotype in Africans.

ABSTRACT: Variation within the gene for the proinflammatory cytokine interleukin (IL)-18 has been associated with inter-individual differences in levels of free protein and disease risk. We investigated the frequency of function-associated IL18 gene haplotypes in an extensive sample (n=2357) of African populations from across the continent. A previously identified five tagging SNP (single-nucleotide polymorphism) haplotype (here designated hGTATA), known to be associated with lower levels of IL-18, was observed at a frequency of 27% in a British population of recent European ancestry, but was found at low frequency (<8%) or completely absent in African populations. Potentially protective variants may, as a consequence, be found at low frequency in African individuals and may confer a difference in disease risk.

SUBMITTER: Thompson SR

PROVIDER: S-EPMC3598319 | biostudies-literature | 2013 Apr

REPOSITORIES: biostudies-literature

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The frequency of an IL-18-associated haplotype in Africans.

Thompson Simon R SR Humphries Steve E SE Thomas Mark G MG Ekong Rosemary R Tarekegn Ayele A Bekele Endeshaw E Creemer Olivia O Bradman Neil N Veeramah Krishna R KR

European journal of human genetics : EJHG 20120829 4

Variation within the gene for the proinflammatory cytokine interleukin (IL)-18 has been associated with inter-individual differences in levels of free protein and disease risk. We investigated the frequency of function-associated IL18 gene haplotypes in an extensive sample (n=2357) of African populations from across the continent. A previously identified five tagging SNP (single-nucleotide polymorphism) haplotype (here designated hGTATA), known to be associated with lower levels of IL-18, was ob ...[more]

PMID: 22929027

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