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  • Title: The frequency of an IL-18-associated haplotype in Africans.
    Author: Thompson SR, Humphries SE, Thomas MG, Ekong R, Tarekegn A, Bekele E, Creemer O, Bradman N, Veeramah KR.
    Journal: Eur J Hum Genet; 2013 Apr; 21(4):465-8. PubMed ID: 22929027.
    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.
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