Lack of Association of rs12702634 in <i>RPA3-UMAD1</i> With Interstitial Lung Diseases in Japanese Rheumatoid Arthritis Patients

Higuchi, Takashi; Oka, Shomi; Furukawa, Hiroshi; Shimada, Kota; Tohma, Shigeto

doi:10.1177/11772719221091758

Cited by 7 publications

(3 citation statements)

References 19 publications

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“…Other genetic factors were suspected to be associated with ILD in Japanese RA. RPA3-UMAD1 rs12702634 was reported to be associated with ILD in the GWAS of Japanese RA, 9 but the association described in that study was not confirmed in our replication study in other Japanese populations, 10 suggesting heterogeneity of ILD in RA. The confirmation of the results of genetic association studies by replication is important to establish their validity.…”

Section: Discussioncontrasting

confidence: 75%

“…RPA3-UMAD1 rs12702634 was reported to be associated with ILD in Japanese RA in a genome-wide association study (GWAS) 9 but was not confirmed in our replication study in other Japanese populations. 10 Another recent GWAS revealed that SNVs in MUC5B , TOLLIP , FAM13A and TERT genes were associated with ILD in European RA. 11 In addition to MUC5B , an association of FAM13A with idiopathic pulmonary fibrosis has been reported in GWAS or candidate gene studies.…”

Section: Introductionmentioning

confidence: 99%

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Association of aFAM13Avariant with interstitial lung disease in Japanese rheumatoid arthritis

et al. 2023

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BackgroundInterstitial lung disease (ILD) occasionally occurs in rheumatoid arthritis (RA) and confers a dismal prognosis. We previously reported that a single-nucleotide variant (SNV) ofMUC5Bwas 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.MethodsGenotyping of rs2609255 (G/T) inFAM13Awas conducted in 208 patients with RA with ILD and 420 without chronic lung disease using TaqMan assays.ResultsA significant association with usual interstitial pneumonia (UIP) in RA was detected for rs2609255 under the allele model (p=0.0092,Pc=0.0276, OR 1.53, 95% CI 1.12 to 2.11) and recessive model for the G allele (p=0.0003,Pc=0.0009, OR 2.63, 95% CI 1.59 to 4.32).FAM13Ars2609255 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.ConclusionsThis 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.

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Section: Discussioncontrasting

confidence: 75%

Section: Introductionmentioning

confidence: 99%

Association of aFAM13Avariant with interstitial lung disease in Japanese rheumatoid arthritis

et al. 2023

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“…The risk allele of the SNV upregulates mucin 5B expression and might interfere alveolar repair. In a study by another group, an SNV in RPA3-UMAD1 was also associated with RA-associated interstitial lung disease [13], but this was not confirmed in our replication study [14]. Associations of TOLLIP, MUC5B, TERT, and FAM13A SNVs with interstitial lung disease were reported in RA patients from European populations [15].…”

Section: Introductioncontrasting

confidence: 68%

Association of a Single Nucleotide Variant in TERT with Airway Disease in Japanese Rheumatoid Arthritis Patients

Higuchi,

Oka,

Furukawa

et al. 2023

Genes

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Interstitial lung disease and airway disease (AD) are often complicated with rheumatoid arthritis (RA) and have a poor prognosis. Several studies reported genetic associations with interstitial lung disease in RA. However, few genetic studies have examined the susceptibility to AD in RA patients. Here, we investigated whether single nucleotide variants susceptible to idiopathic pulmonary fibrosis might be associated with interstitial lung disease or AD in Japanese RA patients. Genotyping of rs2736100 [C/A] in TERT and rs1278769 [G/A] in ATP11A was conducted in 98 RA patients with usual interstitial pneumonia, 120 with nonspecific interstitial pneumonia (NSIP), 227 with AD, and 422 without chronic lung disease using TaqMan assays. An association with AD in RA was found for rs2736100 (p = 0.0043, Pc = 0.0129, odds ratio [OR] 1.40, 95% confidence interval [CI] 1.11–1.77). ATP11A rs1278769 was significantly associated with NSIP in older RA patients (>65 years, p = 0.0010, OR 2.15, 95% CI 1.35–3.40). This study first reported an association of rs2736100 with AD in RA patients and ATP11A rs1278769 with NSIP in older RA patients.

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Genetics of autoimmune-associated interstitial lung diseases: A focus on rheumatoid arthritis

Dieudé

2024

Revista Colombiana de Reumatología

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Lack of Association of rs12702634 in RPA3-UMAD1 With Interstitial Lung Diseases in Japanese Rheumatoid Arthritis Patients

Cited by 7 publications

References 19 publications

Association of aFAM13Avariant with interstitial lung disease in Japanese rheumatoid arthritis

Association of aFAM13Avariant with interstitial lung disease in Japanese rheumatoid arthritis

Association of a Single Nucleotide Variant in TERT with Airway Disease in Japanese Rheumatoid Arthritis Patients

Genetics of autoimmune-associated interstitial lung diseases: A focus on rheumatoid arthritis

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