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Pulmonary fibrosis in relation to genetic loci in an inception cohort of patients with early rheumatoid arthritis from northern Sweden.瑞典北部早期类风湿关节炎发病队列患者中与遗传位点相关的肺纤维化。
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Association of the locus with interstitial lung diseases complicated with rheumatoid arthritis in Japanese.日本人群中基因座与类风湿关节炎合并间质性肺病的相关性研究。
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FAM13A polymorphism as a prognostic factor in patients with idiopathic pulmonary fibrosis.FAM13A基因多态性作为特发性肺纤维化患者的一个预后因素
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一种变异与日本类风湿关节炎间质性肺病的关联。

Association of a variant with interstitial lung disease in Japanese rheumatoid arthritis.

机构信息

Department of Clinical Research, National Hospital Organization Tokyo National Hospital, Kiyose, Japan.

Department of Nephrology, Ushiku Aiwa General Hospital, Ushiku, Japan.

出版信息

RMD Open. 2023 Jan;9(1). doi: 10.1136/rmdopen-2022-002828.

DOI:10.1136/rmdopen-2022-002828
PMID:36717188
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9887688/
Abstract

BACKGROUND

Interstitial lung disease (ILD) occasionally occurs in rheumatoid arthritis (RA) and confers a dismal prognosis. We previously reported that a single-nucleotide variant (SNV) of was associated with ILD in RA. However, the pathogenesis of ILD in Japanese patients with RA could not be explained solely by this SNV because its frequency is extremely low in the Japanese population. Here, we examined whether a different idiopathic pulmonary fibrosis susceptibility SNV might be associated with ILD in Japanese patients with RA.

METHODS

Genotyping of rs2609255 (G/T) in was conducted in 208 patients with RA with ILD and 420 without chronic lung disease using TaqMan assays.

RESULTS

A significant association with usual interstitial pneumonia (UIP) in RA was detected for rs2609255 under the allele model (p=0.0092, c=0.0276, OR 1.53, 95% CI 1.12 to 2.11) and recessive model for the G allele (p=0.0003, c=0.0009, OR 2.63, 95% CI 1.59 to 4.32). rs2609255 was significantly associated with UIP in male patients with RA (p=0.0043, OR 3.65, 95% CI 1.52 to 8.73) under the recessive model.

CONCLUSIONS

This study is the first to document an association of rs2609255 with ILD in Japanese patients with RA, implicating it in the pathogenesis of UIP, though studies on the function of rs2609255 are warranted.

摘要

背景

间质性肺疾病(ILD)偶尔发生在类风湿关节炎(RA)中,预后不良。我们之前报道过, 中的一个单核苷酸变异(SNV)与 RA 中的 ILD 相关。然而,日本 RA 患者的 ILD 发病机制不能仅通过该 SNV 来解释,因为其在日本人群中的频率极低。在这里,我们研究了不同的特发性肺纤维化易感性 SNV 是否与日本 RA 患者的 ILD 相关。

方法

采用 TaqMan 法对 208 例 RA 合并ILD 患者和 420 例无慢性肺部疾病患者的 进行 rs2609255(G/T)基因分型。

结果

在 RA 患者中,rs2609255 与常见间质性肺炎(UIP)在等位基因模型下显著相关(p=0.0092,c=0.0276,OR 1.53,95%CI 1.12 至 2.11)和 G 等位基因的隐性模型(p=0.0003,c=0.0009,OR 2.63,95%CI 1.59 至 4.32)。rs2609255 在 RA 男性患者的隐性模型下与 UIP 显著相关(p=0.0043,OR 3.65,95%CI 1.52 至 8.73)。

结论

本研究首次证明 rs2609255 与日本 RA 患者的 ILD 相关,提示其在 UIP 的发病机制中起作用,但需要进一步研究 rs2609255 的功能。