A novel single nucleotide polymorphism and five probable haplotypes in the 5' flanking region of the IL-6 gene in African-Americans

• Published in: Genes and immunity Vol. 1; no. 2; pp. 166 - 167
• Main Authors: Osiri, M, McNicholl, J, Moreland, L W, Bridges, Jr, S L
• Format: Journal Article
• Language: English
• Published: England Nature Publishing Group 01-11-1999
• Subjects: African Americans; Alleles; Black or African American; Black People - genetics; Gene frequency; Gene polymorphism; Haplotypes; Humans; Inflammatory diseases; Interleukin 6; Interleukin-6 - genetics; Polymorphism, Single Nucleotide; Promoter Regions, Genetic - genetics; Single-nucleotide polymorphism; Transcription; United States; United States
• ISSN: 1466-4879; 1476-5470
• DOI: 10.1038/sj.gene.6363652

In order to identify novel single nucleotide polymorphisms (SNPs), we sequenced a 940 bp region of the 5' flanking region of the IL-6 gene in 63 normal African-Americans. We identified a biallelic (G/C) SNP at position -573 relative to the transcription start site (-573C allele frequency 0.095). This SNP, together with SNPs at -598 and -174, allows identification of five probable haplotypes. Haplotypes containing the -174C allele, which has been associated with lower plasma IL-6 levels, were uncommon (4%). These haplotypes may influence IL-6 gene transcription and thus may contribute to racial differences in the prevalence of inflammatory diseases.