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趋化因子受体5基因多态性CCR5delta32与类风湿性关节炎及青少年特发性关节炎之间无关联。

Lack of association between the chemokine receptor 5 polymorphism CCR5delta32 in rheumatoid arthritis and juvenile idiopathic arthritis.

作者信息

Lindner Ewald, Nordang Gry B N, Melum Espen, Flatø Berit, Selvaag Anne Marit, Thorsby Erik, Kvien Tore K, Førre Oystein T, Lie Benedicte A

机构信息

Institute of Immunology, Rikshospitalet-Radiumhospitalet Medical Center, 0027 Oslo, Norway.

出版信息

BMC Med Genet. 2007 Jun 12;8:33. doi: 10.1186/1471-2350-8-33.

DOI:10.1186/1471-2350-8-33
PMID:17565662
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1906748/
Abstract

BACKGROUND

The chemokine receptor CCR5 has been detected at elevated levels on synovial T cells, and a 32 bp deletion in the CCR5 gene leads to a non-functional receptor. A negative association between the CCR5Delta32 and rheumatoid arthritis (RA) has been reported, although with conflicting results. In juvenile idiopathic arthritis (JIA), an association with CCR5 was recently reported. The purpose of this study was to investigate if the CCR5Delta32 polymorphism is associated with RA or JIA in Norwegian cohorts.

METHODS

853 RA patients, 524 JIA patients and 658 controls were genotyped for the CCR5Delta32 polymorphism.

RESULTS

The CCR5Delta32 allele frequency was 11.5% in the controls vs. 10.4% in RA patients (OR = 0.90; P = 0.36) and 9.7% in JIA patients (OR = 0.85; P = 0.20). No decreased homozygosity was observed for CCR5Delta32, as previously suggested.

CONCLUSION

Our data do not support an association between the CCR5Delta32 allele and Norwegian RA or JIA patients. Combining our results with those from a recently published meta-analysis still provide evidence for a role for CCR5Delta32 in RA, albeit substantially weaker than the effect first reported.

摘要

背景

趋化因子受体CCR5在滑膜T细胞上的表达水平升高,CCR5基因中一个32bp的缺失会导致受体失去功能。尽管结果相互矛盾,但已有报道称CCR5Delta32与类风湿关节炎(RA)之间存在负相关。最近有报道称CCR5与青少年特发性关节炎(JIA)有关联。本研究的目的是调查CCR5Delta32多态性是否与挪威人群中的RA或JIA相关。

方法

对853例RA患者、524例JIA患者和658例对照进行CCR5Delta32多态性基因分型。

结果

对照组中CCR5Delta32等位基因频率为11.5%,RA患者中为10.4%(OR = 0.90;P = 0.36),JIA患者中为9.7%(OR = 0.85;P = 0.20)。未观察到如先前报道的CCR5Delta32纯合性降低。

结论

我们的数据不支持CCR5Delta32等位基因与挪威RA或JIA患者之间存在关联。将我们的结果与最近发表的荟萃分析结果相结合,仍然为CCR5Delta32在RA中的作用提供了证据,尽管其作用比最初报道的要弱得多。

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Association of two functional polymorphisms in the CCR5 gene with juvenile rheumatoid arthritis.CCR5基因中两个功能性多态性与青少年类风湿性关节炎的关联。
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The 32-base pair deletion of the chemokine receptor 5 gene (CCR5-Delta32) is not associated with primary sclerosing cholangitis in 363 Scandinavian patients.趋化因子受体5基因32碱基对缺失(CCR5-Δ32)与363例斯堪的纳维亚患者的原发性硬化性胆管炎无关。
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Negative association between the chemokine receptor CCR5-Delta32 polymorphism and rheumatoid arthritis: a meta-analysis.趋化因子受体CCR5-Delta32多态性与类风湿性关节炎之间的负相关:一项荟萃分析。
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Expression of the inflammatory chemokines CCL5, CCL3 and CXCL10 in juvenile idiopathic arthritis, and demonstration of CCL5 production by an atypical subset of CD8+ T cells.炎症趋化因子CCL5、CCL3和CXCL10在幼年特发性关节炎中的表达,以及CD8 + T细胞非典型亚群产生CCL5的证明。
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Replication of putative candidate-gene associations with rheumatoid arthritis in >4,000 samples from North America and Sweden: association of susceptibility with PTPN22, CTLA4, and PADI4.在来自北美和瑞典的4000多个样本中对类风湿关节炎假定候选基因关联进行复制研究:易感性与蛋白酪氨酸磷酸酶非受体型22(PTPN22)、细胞毒性T淋巴细胞相关抗原4(CTLA4)和肽基精氨酸脱亚氨酶4(PADI4)的关联。
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