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. 2023 Nov 16;14(11):2084.
doi: 10.3390/genes14112084.

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

Takashi Higuchi  1 , Shomi Oka  1   2 , Hiroshi Furukawa  1   2 , Kota Shimada  3   4 , Shinichiro Tsunoda  5   6 , Satoshi Ito  7 , Akira Okamoto  8 , Misuzu Fujimori  8 , Tadashi Nakamura  9 , Masao Katayama  10 , Koichiro Saisho  11   12 , Satoshi Shinohara  13 , Toshihiro Matsui  2   3 , Kiyoshi Migita  14   15 , Shouhei Nagaoka  16 , Shigeto Tohma  1   2
Affiliations

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

Takashi Higuchi et al. Genes (Basel). .

Abstract

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.

Keywords: airway disease; genetic association; nonspecific interstitial pneumonia; rheumatoid arthritis; single nucleotide variant.

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Conflict of interest statement

Shigeto Tohma received honoraria from AbbVie GK., Chugai Pharmaceutical Co., Ltd., Ono Pharmaceutical Co., Ltd., Mitsubishi Tanabe Pharma Co. Asahi Kasei Pharma Corp., Astellas Pharma Inc., and Pfizer Japan Inc. Hiroshi Furukawa received honoraria from Ayumi Pharmaceutical Corp., Pfizer Japan Inc., Luminex Japan Corp. Ltd., Ajinomoto Co. Inc. Dainippon Sumitomo Pharma Co., Ltd., Daiichi Sankyo Co., Ltd., and Takeda Pharmaceutical Co. Shigeto Tohma was supported by research grants from Abbott Japan Co., Ltd., Takeda Pharmaceutical Co., Ltd., Mitsubishi Tanabe Pharma Corp., Merck Sharp and Dohme Inc., Eisai Co., Ltd., Chugai Pharmaceutical Co., Ltd., Pfizer Japan Inc., Teijin Pharma Ltd., and Astellas Pharma Inc. Hiroshi Furukawa was supported by research grants from Japan Research Foundation for Clinical Pharmacology supported by Daiichi Sankyo, Daiwa Securities Health Foundation established by Daiwa Securities Group Inc., Takeda Science Foundation run by Takeda Pharmaceutical Co., Mitsui Sumitomo Insurance Welfare Foundation established by Mitsui Sumitomo Insurance Co., Ltd., Bristol-Myers-Squibb Co., and the Nakatomi Foundation established by Hisamitsu Pharmaceutical Co. Inc. The other authors have no conflict of interest.

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