Association of a FAM13A variant with interstitial lung disease in Japanese rheumatoid arthritis
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 MUC5B was associated with ILD in RA. However, the pathogenesis of ILD in Japanese patients with RA could not be...
| Main Authors: | , , , , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
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BMJ Publishing Group
2023-01-01
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| Series: | RMD Open |
| Online Access: | https://rmdopen.bmj.com/content/9/1/e002828.full |
| _version_ | 1828048641825177600 |
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| author | Hiroshi Furukawa Kota Shimada Toshihiro Matsui Shigeto Tohma Masao Katayama Shouhei Nagaoka Shinichiro Tsunoda Satoshi Shinohara Kiyoshi Migita Koichiro Saisho Shomi Oka Satoshi Ito Takashi Higuchi Akira Okamoto |
| author_facet | Hiroshi Furukawa Kota Shimada Toshihiro Matsui Shigeto Tohma Masao Katayama Shouhei Nagaoka Shinichiro Tsunoda Satoshi Shinohara Kiyoshi Migita Koichiro Saisho Shomi Oka Satoshi Ito Takashi Higuchi Akira Okamoto |
| author_sort | Hiroshi Furukawa |
| collection | DOAJ |
| description | 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 MUC5B 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 FAM13A 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, 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). FAM13A 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. |
| first_indexed | 2024-04-10T18:59:20Z |
| format | Article |
| id | doaj.art-a34d94ab51c54c36aee99c01d35bc44d |
| institution | Directory Open Access Journal |
| issn | 2056-5933 |
| language | English |
| last_indexed | 2024-04-10T18:59:20Z |
| publishDate | 2023-01-01 |
| publisher | BMJ Publishing Group |
| record_format | Article |
| series | RMD Open |
| spelling | doaj.art-a34d94ab51c54c36aee99c01d35bc44d2023-01-31T12:00:08ZengBMJ Publishing GroupRMD Open2056-59332023-01-019110.1136/rmdopen-2022-002828Association of a FAM13A variant with interstitial lung disease in Japanese rheumatoid arthritisHiroshi Furukawa0Kota Shimada1Toshihiro Matsui2Shigeto Tohma3Masao Katayama4Shouhei Nagaoka5Shinichiro Tsunoda6Satoshi Shinohara7Kiyoshi Migita8Koichiro Saisho9Shomi Oka10Satoshi Ito11Takashi Higuchi12Akira Okamoto13Department of Clinical Research, National Hospital Organization Tokyo National Hospital, Kiyose, JapanDepartment of Rheumatic Diseases, Tokyo Metropolitan Tama Medical Center, Fuchu, JapanClinical Research Center for Allergy and Rheumatology, National Hospital Organization Sagamihara National Hospital, Sagamihara, JapanDepartment of Clinical Research, National Hospital Organization Tokyo National Hospital, Kiyose, JapanDepartment of Internal Medicine, National Hospital Organization Nagoya Medical Center, Nagoya, JapanDepartment of Rheumatology, Yokohama Minami Kyosai Hospital, Yokohama, JapanDepartment of Nephrology, Sumitomo Hospital, Osaka, JapanTochigi Rheumatology Clinic, Utsunomiya, JapanDepartment of Gastroenterology and Rheumatology, Fukushima Medical University School of Medicine, Fukushima, JapanTanimura Hospital, Nobeoka, JapanDepartment of Clinical Research, National Hospital Organization Tokyo National Hospital, Kiyose, JapanDepartment of Rheumatology, Niigata Rheumatic Center, Shibata, JapanDepartment of Clinical Research, National Hospital Organization Tokyo National Hospital, Kiyose, JapanDepartment of Rheumatology, National Hospital Organization Himeji Medical Center, Himeji, JapanBackground 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 MUC5B 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 FAM13A 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, 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). FAM13A 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.https://rmdopen.bmj.com/content/9/1/e002828.full |
| spellingShingle | Hiroshi Furukawa Kota Shimada Toshihiro Matsui Shigeto Tohma Masao Katayama Shouhei Nagaoka Shinichiro Tsunoda Satoshi Shinohara Kiyoshi Migita Koichiro Saisho Shomi Oka Satoshi Ito Takashi Higuchi Akira Okamoto Association of a FAM13A variant with interstitial lung disease in Japanese rheumatoid arthritis RMD Open |
| title | Association of a FAM13A variant with interstitial lung disease in Japanese rheumatoid arthritis |
| title_full | Association of a FAM13A variant with interstitial lung disease in Japanese rheumatoid arthritis |
| title_fullStr | Association of a FAM13A variant with interstitial lung disease in Japanese rheumatoid arthritis |
| title_full_unstemmed | Association of a FAM13A variant with interstitial lung disease in Japanese rheumatoid arthritis |
| title_short | Association of a FAM13A variant with interstitial lung disease in Japanese rheumatoid arthritis |
| title_sort | association of a fam13a variant with interstitial lung disease in japanese rheumatoid arthritis |
| url | https://rmdopen.bmj.com/content/9/1/e002828.full |
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