title: 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 5' promoter region of the gene and one VNTR in the 3' 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.
authors.affiliation: University of Glasgow Department of Surgery, Queen Elizabeth Building, Glasgow Royal Infirmary, 10 Alexandra Parade, Glasgow G31 2ER, Scotland.
authors.forename: N
authors.initials: N
authors.lastname: Jordanides
authors.forename: J
authors.initials: J
authors.lastname: Eskdale
authors.forename: R
authors.initials: R
authors.lastname: Stuart
authors.forename: G
authors.initials: G
authors.lastname: Gallagher
mesh_terms: D000483:Alleles; D001483:Base Sequence; D004247:DNA / Q000235:genetics; D005787:Gene Frequency; D006239:Haplotypes; D006720:Homozygote; D006801:Humans; D015850:Interleukin-6 / Q000235:genetics*; D018598:Minisatellite Repeats; D008969:Molecular Sequence Data; D011110:Polymorphism, Genetic; D020641:Polymorphism, Single Nucleotide; D011401:Promoter Regions, Genetic; D012606:Scotland
chemical_list: D015850:Interleukin-6; D004247:DNA