等位基因关联揭示了人类白细胞介素-6（IL-6）基因座处的四种主要单倍型。

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

作者信息

Jordanides N, Eskdale J, Stuart R, Gallagher G

机构信息

University of Glasgow Department of Surgery, Queen Elizabeth Building, Glasgow Royal Infirmary, 10 Alexandra Parade, Glasgow G31 2ER, Scotland.

出版信息

Genes Immun. 2000 Oct;1(7):451-5. doi: 10.1038/sj.gene.6363699.

DOI:10.1038/sj.gene.6363699

PMID:11196676

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.

摘要

我们检测了人类白细胞介素-6（IL-6）基因座中的四个多态性元件，并描述了它们在73名来自苏格兰西部的无亲缘关系的健康个体中的等位基因分布。这些元件包括该基因5'启动子区域的三个单核苷酸多态性（SNP）和IL-6 3'区域的一个可变数目串联重复序列（VNTR）。对每个基因座上等位基因之间的关系进行了统计学考量。在该人群中观察到的总共12种可能的单倍型中，分析表明有四种较为突出。它们分别占41.1%、28.1%、14.4%和3.4%；总共占出现的单倍型的87%。通常，这些推测的单倍型在个体内所有四个基因座上均表现为纯合性。鉴于它们在该人群中的频率及其所含等位基因，我们建议将这些单倍型分别鉴定为IL6.0103、IL6.0204、IL6.0207和IL6.0307。