Allele associations reveal four prominent haplotypes at the human interleukin-6 (IL-6) locus

Abstract

We have examined four polymorphic elements in the human interleukin-6 (IL-6) locus and described their allele distribution in 73 unrelated, healthy individuals from the West-of-Scotland. These comprised three single nucleotide polymorphisms (SNP) in the 5Ј promoter region of the gene and one VNTR in the 3Ј region of IL-6. A statistical consideration of the relationship between alleles at each locus was carried out. Of a total of 12 possible haplotypes observed in the population, the analysis suggested that four were prominent. These accounted for 41.1%, 28.1%, 14.4% and 3.4% respectively; in total, 87% of the haplotypes present. Frequently, these proposed haplotypes were supported by homozygosity across all four loci within individuals. We propose that these haplotypes be identified as IL6.0103, IL6.0204, IL6.0207 and IL6.0307, in recognition of their frequency in this population and the alleles that they contain. Genes and Immunity (2000) 1, 451-455.

Single Nucleotide Polymorphisms in the Interleukin-6 Gene Associated with Blood Pressure and Atherosclerosis in a Japanese General Population

“…The -174G>C polymorphism in the promoter region of IL-6 is considered to regulate IL-6 production (9,26,31) and is associated with juvenile chronic arthritis (28) and myocardial infarction in Caucasians (25). In the present study, -174G>C was not identified, although this SNP is commonly detected with about a 40% prevalence in Caucasians (13,25,28,31,32). In contrast, -636G>C, which we clarified to have a significant association with blood pressure and carotid IMT in Japanese women, has been recognized with only about a 5% prevalence in Caucasians (13,25,32).…”

“…In the present study, -174G>C was not identified, although this SNP is commonly detected with about a 40% prevalence in Caucasians (13,25,28,31,32). In contrast, -636G>C, which we clarified to have a significant association with blood pressure and carotid IMT in Japanese women, has been recognized with only about a 5% prevalence in Caucasians (13,25,32). In the African-American population, -636G>C is common (9.5%) and -174G>C is rare (4%), findings which are very different from those for Caucasians (30); however, circulating IL-6 levels in African-Americans are similar to those in Caucasians (31).…”

Association of specific haplotype of TNF withα Helicobacter pylori-mediated duodenal ulcer in eastern Indian population

“…For genotyping the TNF-α (-308 G/A, -857 C/T, -863 C/A, -1031 T/C) polymorphism, the PCR products for each polymorphism was digested with NcoI, HpyCHIV, HpyCHIV, and BbsI, respectively (Skoog et al 1999). IL6 (-172 G/C, -570 G/C, -594 G/A) polymorphism was genotyped by PCR and subsequent restriction digestion with NlaIII, Fnu4H-I and FokI, respectively (Jordanides et al 2000). Genotyping of IL8, -251 A/T polymorphism was performed by digestion of the PCR products with the restriction enzyme MfeI.…”

“…the gastric mucosa. Polymorphisms in IL-1B, IL6, IL8 and TNF-α have been reported to influence cytokine expression, thereby influencing inflammatory processes in response to infectious diseases (Graham 1997;Jordanides et al 2000;ElOmar et al 2001a,b;Hull et al 2001;McColl and El-Omar 2002). Recent studies have described the association of specific variants of the IL-1B and TNF-α genes with susceptibility to H. pylori-related diseases (Kato et al 2001;El-Omar et al 2003;Garcia-Gonzalez et al 2003;Lee et al 2003;Chakravorty et al 2006).…”

Zinc–gene interaction related to inflammatory/immune response in ageing

“…Genetic studies have identified four polymorphisms in the promoter region of the IL-6 gene (-597G/A, -572G/C, -373A/T, -174G/C) that have significant effect on IL-6 expression in an in vitro system [80,116,117]. A variable number of tandem repeat (VNTR) polymorphisms were found in the 3 0 flanking region of the IL-6 gene (C allele) [9].…”