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...
Ausführliche Beschreibung
Autor*in: |
Hiroshi Furukawa [verfasserIn] Kota Shimada [verfasserIn] Toshihiro Matsui [verfasserIn] Shigeto Tohma [verfasserIn] Masao Katayama [verfasserIn] Shouhei Nagaoka [verfasserIn] Shinichiro Tsunoda [verfasserIn] Satoshi Shinohara [verfasserIn] Kiyoshi Migita [verfasserIn] Koichiro Saisho [verfasserIn] Shomi Oka [verfasserIn] Satoshi Ito [verfasserIn] Takashi Higuchi [verfasserIn] Akira Okamoto [verfasserIn] |
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Format: |
E-Artikel |
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Sprache: |
Englisch |
Erschienen: |
2023 |
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Übergeordnetes Werk: |
In: RMD Open - BMJ Publishing Group, 2016, 9(2023), 1 |
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Übergeordnetes Werk: |
volume:9 ; year:2023 ; number:1 |
Links: |
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DOI / URN: |
10.1136/rmdopen-2022-002828 |
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Katalog-ID: |
DOAJ081273568 |
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520 | |a 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. | ||
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10.1136/rmdopen-2022-002828 doi (DE-627)DOAJ081273568 (DE-599)DOAJa34d94ab51c54c36aee99c01d35bc44d DE-627 ger DE-627 rakwb eng Hiroshi Furukawa verfasserin aut Association of a FAM13A variant with interstitial lung disease in Japanese rheumatoid arthritis 2023 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier 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. Medicine R Kota Shimada verfasserin aut Toshihiro Matsui verfasserin aut Shigeto Tohma verfasserin aut Masao Katayama verfasserin aut Shouhei Nagaoka verfasserin aut Shinichiro Tsunoda verfasserin aut Satoshi Shinohara verfasserin aut Kiyoshi Migita verfasserin aut Koichiro Saisho verfasserin aut Shomi Oka verfasserin aut Satoshi Ito verfasserin aut Takashi Higuchi verfasserin aut Akira Okamoto verfasserin aut In RMD Open BMJ Publishing Group, 2016 9(2023), 1 (DE-627)819493627 (DE-600)2812592-7 20565933 nnns volume:9 year:2023 number:1 https://doi.org/10.1136/rmdopen-2022-002828 kostenfrei https://doaj.org/article/a34d94ab51c54c36aee99c01d35bc44d kostenfrei https://rmdopen.bmj.com/content/9/1/e002828.full kostenfrei https://doaj.org/toc/2056-5933 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2014 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 9 2023 1 |
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10.1136/rmdopen-2022-002828 doi (DE-627)DOAJ081273568 (DE-599)DOAJa34d94ab51c54c36aee99c01d35bc44d DE-627 ger DE-627 rakwb eng Hiroshi Furukawa verfasserin aut Association of a FAM13A variant with interstitial lung disease in Japanese rheumatoid arthritis 2023 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier 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. Medicine R Kota Shimada verfasserin aut Toshihiro Matsui verfasserin aut Shigeto Tohma verfasserin aut Masao Katayama verfasserin aut Shouhei Nagaoka verfasserin aut Shinichiro Tsunoda verfasserin aut Satoshi Shinohara verfasserin aut Kiyoshi Migita verfasserin aut Koichiro Saisho verfasserin aut Shomi Oka verfasserin aut Satoshi Ito verfasserin aut Takashi Higuchi verfasserin aut Akira Okamoto verfasserin aut In RMD Open BMJ Publishing Group, 2016 9(2023), 1 (DE-627)819493627 (DE-600)2812592-7 20565933 nnns volume:9 year:2023 number:1 https://doi.org/10.1136/rmdopen-2022-002828 kostenfrei https://doaj.org/article/a34d94ab51c54c36aee99c01d35bc44d kostenfrei https://rmdopen.bmj.com/content/9/1/e002828.full kostenfrei https://doaj.org/toc/2056-5933 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2014 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 9 2023 1 |
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10.1136/rmdopen-2022-002828 doi (DE-627)DOAJ081273568 (DE-599)DOAJa34d94ab51c54c36aee99c01d35bc44d DE-627 ger DE-627 rakwb eng Hiroshi Furukawa verfasserin aut Association of a FAM13A variant with interstitial lung disease in Japanese rheumatoid arthritis 2023 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier 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. Medicine R Kota Shimada verfasserin aut Toshihiro Matsui verfasserin aut Shigeto Tohma verfasserin aut Masao Katayama verfasserin aut Shouhei Nagaoka verfasserin aut Shinichiro Tsunoda verfasserin aut Satoshi Shinohara verfasserin aut Kiyoshi Migita verfasserin aut Koichiro Saisho verfasserin aut Shomi Oka verfasserin aut Satoshi Ito verfasserin aut Takashi Higuchi verfasserin aut Akira Okamoto verfasserin aut In RMD Open BMJ Publishing Group, 2016 9(2023), 1 (DE-627)819493627 (DE-600)2812592-7 20565933 nnns volume:9 year:2023 number:1 https://doi.org/10.1136/rmdopen-2022-002828 kostenfrei https://doaj.org/article/a34d94ab51c54c36aee99c01d35bc44d kostenfrei https://rmdopen.bmj.com/content/9/1/e002828.full kostenfrei https://doaj.org/toc/2056-5933 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2014 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 9 2023 1 |
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10.1136/rmdopen-2022-002828 doi (DE-627)DOAJ081273568 (DE-599)DOAJa34d94ab51c54c36aee99c01d35bc44d DE-627 ger DE-627 rakwb eng Hiroshi Furukawa verfasserin aut Association of a FAM13A variant with interstitial lung disease in Japanese rheumatoid arthritis 2023 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier 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. Medicine R Kota Shimada verfasserin aut Toshihiro Matsui verfasserin aut Shigeto Tohma verfasserin aut Masao Katayama verfasserin aut Shouhei Nagaoka verfasserin aut Shinichiro Tsunoda verfasserin aut Satoshi Shinohara verfasserin aut Kiyoshi Migita verfasserin aut Koichiro Saisho verfasserin aut Shomi Oka verfasserin aut Satoshi Ito verfasserin aut Takashi Higuchi verfasserin aut Akira Okamoto verfasserin aut In RMD Open BMJ Publishing Group, 2016 9(2023), 1 (DE-627)819493627 (DE-600)2812592-7 20565933 nnns volume:9 year:2023 number:1 https://doi.org/10.1136/rmdopen-2022-002828 kostenfrei https://doaj.org/article/a34d94ab51c54c36aee99c01d35bc44d kostenfrei https://rmdopen.bmj.com/content/9/1/e002828.full kostenfrei https://doaj.org/toc/2056-5933 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2014 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 9 2023 1 |
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10.1136/rmdopen-2022-002828 doi (DE-627)DOAJ081273568 (DE-599)DOAJa34d94ab51c54c36aee99c01d35bc44d DE-627 ger DE-627 rakwb eng Hiroshi Furukawa verfasserin aut Association of a FAM13A variant with interstitial lung disease in Japanese rheumatoid arthritis 2023 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier 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. Medicine R Kota Shimada verfasserin aut Toshihiro Matsui verfasserin aut Shigeto Tohma verfasserin aut Masao Katayama verfasserin aut Shouhei Nagaoka verfasserin aut Shinichiro Tsunoda verfasserin aut Satoshi Shinohara verfasserin aut Kiyoshi Migita verfasserin aut Koichiro Saisho verfasserin aut Shomi Oka verfasserin aut Satoshi Ito verfasserin aut Takashi Higuchi verfasserin aut Akira Okamoto verfasserin aut In RMD Open BMJ Publishing Group, 2016 9(2023), 1 (DE-627)819493627 (DE-600)2812592-7 20565933 nnns volume:9 year:2023 number:1 https://doi.org/10.1136/rmdopen-2022-002828 kostenfrei https://doaj.org/article/a34d94ab51c54c36aee99c01d35bc44d kostenfrei https://rmdopen.bmj.com/content/9/1/e002828.full kostenfrei https://doaj.org/toc/2056-5933 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2014 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 9 2023 1 |
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Hiroshi Furukawa @@aut@@ Kota Shimada @@aut@@ Toshihiro Matsui @@aut@@ Shigeto Tohma @@aut@@ Masao Katayama @@aut@@ Shouhei Nagaoka @@aut@@ Shinichiro Tsunoda @@aut@@ Satoshi Shinohara @@aut@@ Kiyoshi Migita @@aut@@ Koichiro Saisho @@aut@@ Shomi Oka @@aut@@ Satoshi Ito @@aut@@ Takashi Higuchi @@aut@@ Akira Okamoto @@aut@@ |
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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 |
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association of a fam13a variant with interstitial lung disease in japanese rheumatoid arthritis |
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Association of a FAM13A variant with interstitial lung disease in Japanese rheumatoid arthritis |
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 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. |
abstractGer |
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. |
abstract_unstemmed |
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. |
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Association of a FAM13A variant with interstitial lung disease in Japanese rheumatoid arthritis |
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https://doi.org/10.1136/rmdopen-2022-002828 https://doaj.org/article/a34d94ab51c54c36aee99c01d35bc44d https://rmdopen.bmj.com/content/9/1/e002828.full https://doaj.org/toc/2056-5933 |
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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 |
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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.</subfield></datafield><datafield tag="653" ind1=" " ind2="0"><subfield code="a">Medicine</subfield></datafield><datafield tag="653" ind1=" " ind2="0"><subfield code="a">R</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Kota Shimada</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Toshihiro Matsui</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="700" ind1="0" ind2=" "><subfield code="a">Shigeto Tohma</subfield><subfield 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