Lifetime risk of rheumatoid arthritis-associated interstitial lung disease in MUC5B mutation carriers. Issue 12 (3rd August 2021)

• Record Type: Journal Article
• Authors: Palomäki, Antti; Palotie, Aarno; Koskela, Jukka; Eklund, Kari K; Pirinen, Matti; Ripatti, Samuli; Laitinen, Tarja; Mars, Nina
• Other Names: author non-byline.; Eklund Kari author non-byline.; Palomäki Antti author non-byline.; Isomaki Pia author non-byline.; Pirilä Laura author non-byline.; Kaipiainen-Seppänen Oili author non-byline.; Huhtakangas Johanna author non-byline.; Abbasi Ali author non-byline.; Waring Jeffrey author non-byline.; Rahimov Fedik author non-byline.; Lertratanakul Apinya author non-byline.; Smaoui Nizar author non-byline.; Lehtonen Anne author non-byline.; Platt Adam author non-byline.; Close David author non-byline.; Hochfeld Marla author non-byline.; Bowers Natalie author non-byline.; Pendergrass Sarah author non-byline.; Soylemez Onuralp author non-byline.; Kalpala Kirsi author non-byline.; Bing Nan author non-byline.; Hu Xinli author non-byline.; Auro Kirsi author non-byline.; Waterworth Dawn author non-byline.; Ganna Andrea author non-byline.; Kerola Anne author non-byline.; Heikkilä Hanna-Kaisa author non-byline.; Tabuenca Javier Gracia author non-byline.; Hiltunen Johanna author non-byline.; Paltta Johanna author non-byline.; Sinisalo Juha author non-byline.; Koskela Jukka author non-byline.; Mars Nina author non-byline.; Laitinen Tarja author non-byline.; Sokka-Isler Tuulikki author non-byline.; Llorens Vincent author non-byline.; author non-byline.; Palotie Aarno author non-byline.; Daly Mark author non-byline.; Riley-Gills Bridget author non-byline.; Jacob Howard author non-byline.; Paul Dirk author non-byline.; Runz Heiko author non-byline.; John Sally author non-byline.; Plenge Robert author non-byline.; McCarthy Mark author non-byline.; Hunkapiller Julie author non-byline.; Ehm Meg author non-byline.; Auro Kirsi author non-byline.; Fox Caroline author non-byline.; Mälarstig Anders author non-byline.; Klinger Katherine author non-byline.; Raipal Deepak author non-byline.; Behrens Tim author non-byline.; Yang Robert author non-byline.; Siegel Richard author non-byline.; Mäkelä Tomi author non-byline.; Kaprio Jaakko author non-byline.; Virolainen Petri author non-byline.; 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Miller Russell author non-byline.; Chu Audrey author non-byline.; Auro Kirsi author non-byline.; Usiskin Keith author non-byline.; Elliott Amanda author non-byline.; Rämö Joel author non-byline.; Ripatti Samuli author non-byline.; Reeve Mary Pat author non-byline.; Ruotsalainen Sanni author non-byline.; Meretoja Tuomo author non-byline.; Joensuu Heikki author non-byline.; Carpén Olli author non-byline.; Aaltonen Lauri author non-byline.; Mattson Johanna author non-byline.; Auranen Annika author non-byline.; Karihtala Peeter author non-byline.; Kauppila Saila author non-byline.; Auvinen Päivi author non-byline.; Elenius Klaus author non-byline.; Schleutker Johanna author non-byline.; Popovic Relja author non-byline.; Waring Jeffrey author non-byline.; Riley-Gillis Bridget author non-byline.; Lehtonen Anne author non-byline.; Schutzman Jennifer author non-byline.; Hunkapiller Julie author non-byline.; Bowers Natalie author non-byline.; Pendergrass Sarah author non-byline.; Loboda Andrey author non-byline.; 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Koskelainen Sami author non-byline.; Hiekkalinna Tero author non-byline.; Paajanen Teemu author non-byline.; Palta Priit author non-byline.; Pärn Kalle author non-byline.; Luo Shuang author non-byline.; Sinha Vishal author non-byline.; Laitinen Tarja author non-byline.; Siirtola Harri author non-byline.; Gracia-Tabuenca Javier author non-byline.; Helminen Mika author non-byline.; Luukkaala Tiina author non-byline.; Vähätalo Iida author non-byline.; Jyrhämä Tero author non-byline.; Hautalahti Marco author non-byline.; Mustaniemi Laura author non-byline.; Koivusalo Mirkka author non-byline.; Smith Sarah author non-byline.; Southerington Tom author non-byline.;
• Is Part Of: Annals of the rheumatic diseases. Volume 80:Issue 12(2021)
• Page Start: 1530
• Page End: 1536
• Publication Date: 2021-08-03
• Subjects: rheumatoid arthritis -- pulmonary fibrosis -- polymorphism -- genetic; Rheumatism -- Periodicals; 616.723005
• DOI: 10.1136/annrheumdis-2021-220698
• Languages: English
• ISSNs: 0003-4967

Abstract

Abstract : Objectives: To estimate lifetime risk of developing rheumatoid arthritis-associated interstitial lung disease (RA-ILD) with respect to the strongest known risk factor for pulmonary fibrosis, a MUC5B promoter variant. Methods: FinnGen is a collection of epidemiological cohorts and hospital biobank samples, integrating genetic data with up to 50 years of follow-up within nationwide registries in Finland. Patients with RA and ILD were identified from the Finnish national hospital discharge, medication reimbursement and cause-of-death registries. We estimated lifetime risks of ILD by age 80 with respect to the common variant rs35705950, a MUC5B promoter variant. Results: Out of 293 972 individuals, 1965 (0.7%) developed ILD by age 80. Among all individuals in the dataset, MUC5B increased the risk of ILD with a HR of 2.44 (95% CI: 2.22 to 2.68). Out of 6869 patients diagnosed with RA, 247 (3.6%) developed ILD. In patients with RA, MUC5B was a strong risk factor of ILD with a HR similar to the full dataset (HR: 2.27, 95% CI: 1.75 to 2.95). In patients with RA, lifetime risks of ILD were 16.8% (95% CI: 13.1% to 20.2%) for MUC5B carriers and 6.1% (95% CI: 5.0% to 7.2%) for MUC5B non-carriers. The difference between risks started to emerge at age 65, with a higher risk among men. Conclusion: Our findings provide estimates of lifetime risk of RA-ILD based on MUC5B mutation carrier status, demonstrating the potential of genomics for risk stratification of RA-ILD.