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The interleukin 1 gene cluster contains a major susceptibility locus for ankylosing spondylitis.

ABSTRACT: Ankylosing spondylitis (AS) is a common and highly heritable inflammatory arthropathy. Although the gene HLA-B27 is almost essential for the inheritance of the condition, it alone is not sufficient to explain the pattern of familial recurrence of the disease. We have previously demonstrated suggestive linkage of AS to chromosome 2q13, a region containing the interleukin 1 (IL-1) family gene cluster, which includes several strong candidates for involvement in the disease. In the current study, we describe strong association and transmission of IL-1 family gene cluster single-nucleotide polymorphisms and haplotypes with AS.

SUBMITTER: Timms AE

PROVIDER: S-EPMC1182046 | biostudies-literature | 2004 Oct

REPOSITORIES: biostudies-literature

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The interleukin 1 gene cluster contains a major susceptibility locus for ankylosing spondylitis.

Timms Andrew E AE Crane Alison M AM Sims Anne-Marie AM Cordell Heather J HJ Bradbury Linda A LA Abbott Aaron A Coyne Mark R E MR Beynon Owen O Herzberg Ibi I Duff Gordon W GW Calin Andrei A Cardon Lon R LR Wordsworth B Paul BP Brown Matthew A MA

American journal of human genetics 20040812 4

Ankylosing spondylitis (AS) is a common and highly heritable inflammatory arthropathy. Although the gene HLA-B27 is almost essential for the inheritance of the condition, it alone is not sufficient to explain the pattern of familial recurrence of the disease. We have previously demonstrated suggestive linkage of AS to chromosome 2q13, a region containing the interleukin 1 (IL-1) family gene cluster, which includes several strong candidates for involvement in the disease. In the current study, we ...[more]

PMID: 15309690

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MICA, a gene contributing strong susceptibility to ankylosing spondylitis.

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| S-EPMC7055193 | biostudies-literature

ETS1 variants confer susceptibility to ankylosing spondylitis in Han Chinese.

Project description:INTRODUCTION: ETS1 is a negative regulator of the Th17 differentiation gene and plays a central role in the pathogenesis of autoimmune diseases. We aimed to investigate whether polymorphisms in ETS1 confer susceptibility to ankylosing spondylitis (AS) in Han Chinese. METHODS: We selected seven single nucleotide polymorphisms (SNPs) within ETS1 based on HapMap data and previous genome-wide association study. Genotyping involved the TaqMan method in 1,015 patients with AS and 1,132 healthy controls from Shandong Province, and 352 AS patients and 400 healthy controls from Ningxia, a northwest region in China. Gene expression was determined by real-time PCR. RESULTS: The SNP rs1128334 was strongly associated with AS (odds ratio 1.204, 95% confidence interval 1.06-1.37; P?=?0.005). This association was confiexrmed in the Ningxia population (P?=?0.015). Carriers of the haplotype TAT for rs12574073, rs1128334 and rs4937333 were associated with increased risk of AS and haplotype CGC with reduced risk as compared to controls. In addition, ETS1 expression was lower in AS patients than controls. The risk allele A of rs1128334 and haplotype A-T of rs1128334 and rs4937333 were associated with decreased expression of ETS1. CONCLUSIONS: Common variants in ETS1 may contribute to AS susceptibility in Han Chinese people.

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