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Genes Immun. 2002 Dec;3(8):482-7.

TNF-alpha promoter single nucleotide polymorphisms are markers of human ancestry.

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  • 1Center for Blood Research, Harvard Medical School, Boston, MA 02115, USA.

Abstract

We present a map of single nucleotide polymorphisms (SNPs) in the human tumor necrosis factor (TNF)-alpha promoter based upon exploratory sequencing of 333 human TNF-alpha gene promoters from individuals of distinct ancestral backgrounds. We detect 10 TNF-alpha promoter SNPs that occur with distinct frequencies in populations of different ancestry. Consistent with these findings, we show that two TNF-alpha SNPs, the -243 SNP and the -856 SNP, are the first SNP markers of a sub-Saharan African-derived extended haplotype and an Amerindian HLA haplotype, respectively. Comparisons of TNF-alpha promoter SNP allele frequencies can thus help elucidate variation of HLA haplotypes and their distribution among existing ethnic groups and shed light into the history of human populations.

PMID:
12486607
[PubMed - indexed for MEDLINE]
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