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大学・研究所にある論文を検索できる 「A genome-wide association study identifying single nucleotide polymorphisms in the PPFIBP2 gene was predictive for interstitial lung disease in rheumatoid arthritis patients」の論文概要。リケラボ論文検索は、全国の大学リポジトリにある学位論文・教授論文を一括検索できる論文検索サービスです。

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A genome-wide association study identifying single nucleotide polymorphisms in the PPFIBP2 gene was predictive for interstitial lung disease in rheumatoid arthritis patients

Hayashi, Shinya Matsubara, Tsukasa Fukuda, Koji Maeda, Toshihisa Funahashi, Keiko Hashimoto, Marowa Takashima, Yoshinori Kikuchi, Kenichi Fujita, Masahiro Matsumoto, Tomoyuki Kuroda, Ryosuke 神戸大学

2022.10.29

概要

Objective Genetic polymorphisms might serve as useful prognostic markers for the timely diagnosis of RA. The purpose of this study was to identify genomic factors predictive of the occurrence of interstitial lung disease (ILD) in RA by performing a genome-wide association study of genetic variants, including single nucleotide polymorphisms (SNPs). Methods The study population included 306 RA patients. All patients were treated with conventional DMARDs, including 6–16 mg MTX per week. Clinical data and venous blood samples were collected from all patients before administration of DMARDs. A total of 278 347 SNPs were analysed to determine their association with ILD occurrence. Results Several SNPs were strongly associated with ILD occurrence (P < 10−5). rs6578890, which is located on chromosome 11 in the intronic region of the gene encoding tyrosine phosphatase receptor type F polypeptide-interacting protein-binding protein 2 (PPFIBP2), showed the strongest association with ILD occurrence (odds ratio 4.32, P = 10−7.93). Conclusion PPFIBP2 could be a useful genetic marker for occurrence of interstitial pneumonia in RA patients and might help to identify the risk of ILD occurrence before RA treatment, thereby improving patient outcomes.

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参考文献

1. Raghu G. Idiopathic pulmonary fibrosis: new evidence and an im- proved standard of care in 2012. Lancet 2012;380:699–701.

2. Ryu JH, Colby TV, Hartman TE, Vassallo R. Smoking-related in- terstitial lung diseases: a concise review. Eur Respir J 2001;17: 122–32.

3. Hubbard R, Venn A, Smith C et al. Exposure to commonly pre- scribed drugs and the etiology of cryptogenic fibrosing alveolitis: a case-control study. Am J Respir Crit Care Med 1998;157:743–7.

4. Bae W, Lee CH, Lee J et al. Impact of smoking on the development of idiopathic pulmonary fibrosis: results from a nationwide population-based cohort study. Thorax 2022;77:470–6.

5. Flaherty KR, Wells AU, Cottin V et al.; INBUILD Trial Investigators. Nintedanib in progressive fibrosing interstitial lung diseases. N Engl J Med 2019;381:1718–27.

6. Distler O, Gahlemann M, Maher TM. Nintedanib for systemic sclerosis-associated interstitial lung disease. Reply. N Engl J Med 2019;381:1596–7.

7. Seibold MA, Wise AL, Speer MC et al. A common MUC5B pro- moter polymorphism and pulmonary fibrosis. N Engl J Med 2011; 364:1503–12.

8. Klareskog L, Catrina AI, Paget S. Rheumatoid arthritis. Lancet 2009;373:659–72.

9. Radner H, Smolen JS, Aletaha D. Comorbidity affects all domains of physical function and quality of life in patients with rheumatoid arthritis. Rheumatology (Oxford) 2011;50:381–8.

10. Smolen JS, Aletaha D, Barton A et al. Rheumatoid arthritis. Nat Rev Dis Primers 2018;4:18001.

11. Dudbridge F. Power and predictive accuracy of polygenic risk scores. PLoS Genet 2013;9:e1003348.

12. Suzuki A, Yamada R, Chang X et al. Functional haplotypes of PADI4, encoding citrullinating enzyme peptidylarginine deiminase 4, are associated with rheumatoid arthritis. Nat Genet 2003;34: 395–402.

13. Ozaki K, Ohnishi Y, Iida A et al. Functional SNPs in the lymphotoxin-alpha gene that are associated with susceptibility to myocardial infarction. Nat Genet 2002;32:650–4.

14. Juge PA, Lee JS, Ebstein E et al. MUC5B promoter variant and rheumatoid arthritis with interstitial lung disease. N Engl J Med 2018;379:2209–19.

15. Noth I, Zhang Y, Ma SF et al. Genetic variants associated with idi- opathic pulmonary fibrosis susceptibility and mortality: a genome- wide association study. Lancet Respir Med 2013;1:309–17.

16. Okada Y, Momozawa Y, Sakaue S et al. Deep whole-genome se- quencing reveals recent selection signatures linked to evolution and disease risk of Japanese. Nat Commun 2018;9:1631.

17. Shirai Y, Honda S, Ikari K et al. Association of the RPA3-UMAD1 locus with interstitial lung diseases complicated with rheumatoid arthritis in Japanese. Ann Rheum Dis 2020;79:1305–9.

18. Higuchi T, Oka S, Furukawa H, Shimada K, Tohma S. Lack of as- sociation of rs12702634 in RPA3-UMAD1 with interstitial lung diseases in Japanese rheumatoid arthritis patients. Biomark Insights 2022;17:11772719221091758.

19. Arnett FC, Edworthy SM, Bloch DA et al. The American Rheumatism Association 1987 revised criteria for the classification of rheumatoid arthritis. Arthritis Rheum 1988;31:315–24.

20. Raghu G, Remy-Jardin M, Myers JL et al.; American Thoracic Society, European Respiratory Society, Japanese Respiratory Society, and Latin American Thoracic Society. Diagnosis of idio- pathic pulmonary fibrosis. An official ATS/ERS/JRS/ALAT clinical practice guideline. Am J Respir Crit Care Med 2018;198:e44–e68.

21. Atsumi T, Yamamoto K, Takeuchi T et al. The first double-blind, randomised, parallel-group certolizumab pegol study in methotrexate-naive early rheumatoid arthritis patients with poor prognostic factors, C-OPERA, shows inhibition of radiographic progression. Ann Rheum Dis 2016;75:75–83.

22. Tanaka Y, Kuwana M, Fujii T et al.; Japan College of Rheumatology guideline for the use of methotrexate in patients with rheumatoid arthritis. 2019 Diagnostic criteria for mixed con- nective tissue disease (MCTD): From the Japan research committee of the ministry of health, labor, and welfare for systemic autoim- mune diseases. Mod Rheumatol 2021;31:29–33.

23. Bongartz T, Nannini C, Medina-Velasquez YF et al. Incidence and mortality of interstitial lung disease in rheumatoid arthritis: a population-based study. Arthritis Rheum 2010;62:1583–91.

24. Gochuico BR, Avila NA, Chow CK et al. Progressive preclinical in- terstitial lung disease in rheumatoid arthritis. Arch Intern Med 2008;168:159–66.

25. Kinoshita F, Hamano H, Harada H et al. Role of KL-6 in evaluat- ing the disease severity of rheumatoid lung disease: comparison with HRCT. Respir Med 2004;98:1131–7.

26. Stafford RL, Tang MY, Sawaya MR, Phillips ML, Bowie JU. Crystal structure of the central coiled-coil domain from human liprin-beta2. Biochemistry 2011;50:3807–15.

27. von Thun A, Birtwistle M, Kalna G et al. ERK2 drives tumour cell migration in three-dimensional microenvironments by suppressing expression of Rab17 and liprin-beta2. J Cell Sci 2012;125: 1465–77.

28. Wu Y, Yu H, Zheng SL et al. Germline mutations in PPFIBP2 are associated with lethal prostate cancer. Prostate 2018;78:1222–8.

29. Gross TJ, Hunninghake GW. Idiopathic pulmonary fibrosis. N Engl J Med 2001;345:517–25.

30. Karch CM, Ezerskiy LA, Bertelsen S, Goate AM; Alzheimer’s Disease Genetics Consortium (ADGC). Alzheimer’s disease risk polymorphisms regulate gene expression in the ZCWPW1 and the CELF1 loci. PLoS One 2016;11:e0148717.

31. Roussos P, Mitchell AC, Voloudakis G et al. A role for non- coding variation in schizophrenia. Cell Rep 2014;9: 1417–29.

32. Son B, Kwon T, Lee S et al. CYP2E1 regulates the development of radiation-induced pulmonary fibrosis via ER stress- and ROS- dependent mechanisms. Am J Physiol Lung Cell Mol Physiol 2017; 313:L916–29.

33. Battelli LA, Ghanem MM, Kashon ML et al. Crystalline silica is a negative modifier of pulmonary cytochrome P-4501A1 induction. J Toxicol Environ Health A 2008;71:521–32.

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