Dataset Information

Association of TLR4 Gene rs2149356 polymorphism with primary gouty arthritis in a case-control study.

ABSTRACT:

Background

The toll-like receptor (TLR)4-interleukin1? (IL1?) signaling pathway is involved in the monosodium urate (MSU)-mediated inflammation. The aim of this present study was to determine whether the TLR4 gene rs2149356 SNP is associated with gouty arthritis (GA) susceptibility and whether rs2149356 SNP impacts the TLR4-IL1? signaling pathway molecules expression.

Methods and findings

The rs2149356 SNP was detected in 459 GA patients and 669 control subjects (containing 459 healthy and 210 hyperuricemic subjects). Peripheral blood mononuclear cells (PBMCs) TLR4 mRNA and serum IL1? were measured in different genotype carriers, and correlations between TLR4 gene SNP and TLR4 mRNA, IL1? were investigated. The frequencies of the genotype and allele were significantly different between the GA and control groups (P<0.01, respectively). The TT genotype was associated with a significantly increased risk of GA (OR?=?1.88); this finding was not influenced by making adjustments for the components of possible confounders (adjusted OR?=?1.96). TLR4 mRNA and IL1? were significantly increased in the TT genotype from acute GA patients (P<0.05, respectively), and lipids were significantly different among three genotypes in the GA patients (P<0.05, respectively).

Conclusions

The TLR4 gene rs2149356 SNP might be associated with GA susceptibility, and might participate in regulating immune, inflammation and lipid metabolism. Further studies are required to confirm these findings.

SUBMITTER: Qing YF

PROVIDER: S-EPMC3667827 | biostudies-literature | 2013

REPOSITORIES: biostudies-literature

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Publications

Association of TLR4 Gene rs2149356 polymorphism with primary gouty arthritis in a case-control study.

Qing Yu-Feng YF Zhou Jing-Guo JG Zhang Quan-Bo QB Wang Dong-Sheng DS Li Min M Yang Qi-Bin QB Huang Cui-Ping CP Yin Ling L Pan Shu-Yue SY Xie Wen-Guang WG Zhang Meng-Yun MY Pu Meng-Jun MJ Zeng Mei M

PloS one 20130530 5

<h4>Background</h4>The toll-like receptor (TLR)4-interleukin1β (IL1β) signaling pathway is involved in the monosodium urate (MSU)-mediated inflammation. The aim of this present study was to determine whether the TLR4 gene rs2149356 SNP is associated with gouty arthritis (GA) susceptibility and whether rs2149356 SNP impacts the TLR4-IL1β signaling pathway molecules expression.<h4>Methods and findings</h4>The rs2149356 SNP was detected in 459 GA patients and 669 control subjects (containing 459 he ...[more]

PMID: 23738004

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Project description:Juvenile rheumatoid arthritis (JRA) comprises a group of chronic systemic inflammatory disorders that primarily affect joints and can cause long-term disability. JRA is likely to be a complex genetic trait, or a series of such traits, with both genetic and environmental factors contributing to the risk for developing the disease and to its progression. The HLA region on the short arm of chromosome 6 has been intensively evaluated for genetic contributors to JRA, and multiple associations, and more recently linkage, has been detected. Other genes involved in innate and acquired immunity also map to near the HLA cluster on 6p, and it is possible that variation within these genes also confers risk for developing JRA. We examined the TPSN gene, which encodes tapasin, an endoplasmic reticulum chaperone that is involved in antigen processing, to elucidate its involvement, if any, in JRA. We employed both a case-control approach and the transmission disequilibrium test, and found linkage and association between the TPSN allele (Arg260) and the systemic onset subtype of JRA. Two independent JRA cohorts were used, one recruited from the Rheumatology Clinic at Cincinnati Children's Hospital Medical Center (82 simplex families) and one collected by the British Paediatric Rheumatology Group in London, England (74 simplex families). The transmission disequilibrium test for these cohorts combined was statistically significant (chi2 = 4.2, one degree of freedom; P = 0.04). Linkage disequilibrium testing between the HLA alleles that are known to be associated with systemic onset JRA did not reveal linkage disequilibrium with the Arg260 allele, either in the Cincinnati systemic onset JRA cohort or in 113 Caucasian healthy individuals. These results suggest that there is a weak association between systemic onset JRA and the TPSN polymorphism, possibly due to linkage disequilibrium with an as yet unknown susceptibility allele in the centromeric part of chromosome 6.

Dataset Information

Association of TLR4 Gene rs2149356 polymorphism with primary gouty arthritis in a case-control study.

Background

Methods and findings

Conclusions

Publications

Association of TLR4 Gene rs2149356 polymorphism with primary gouty arthritis in a case-control study.

Similar Datasets

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