Association of NCF1 polymorphism with systemic lupus erythematosus and systemic sclerosis but not with ANCA-associated vasculitis in a Japanese population

Nozomi Yokoyama, Aya Kawasaki, Takashi Matsushita, Hiroshi Furukawa, Yuya Kondo, Fumio Hirano, Ken ei Sada, Isao Matsumoto, Makio Kusaoi, Hirofumi Amano, Shouhei Nagaoka, Keigo Setoguchi, Tatsuo Nagai, Kota Shimada, Shoji Sugii, Atsushi Hashimoto, Toshihiro Matsui, Akira Okamoto, Noriyuki Chiba, Eiichi SuematsuShigeru Ohno, Masao Katayama, Kiyoshi Migita, Hajime Kono, Minoru Hasegawa, Shigeto Kobayashi, Hidehiro Yamada, Kenji Nagasaka, Takahiko Sugihara, Kunihiro Yamagata, Shoichi Ozaki, Naoto Tamura, Yoshinari Takasaki, Hiroshi Hashimoto, Hirofumi Makino, Yoshihiro Arimura, Masayoshi Harigai, Shinichi Sato, Takayuki Sumida, Shigeto Tohma, Kazuhiko Takehara, Naoyuki Tsuchiya

Research output: Contribution to journalArticle

Abstract

Genome-wide association studies of systemic lupus erythematosus (SLE) in Chinese and Korean populations demonstrated strong association of single nucleotide polymorphisms (SNPs) located in the GTF2I-NCF1 region, rs73366469 (GTF2I), rs117026326 (GTF2I), rs80346167(GTF2IRD1) and rs201802880 (NCF1). This region has also been associated with susceptibility to Sjögren syndrome and rheumatoid arthritis; however, association studies with systemic sclerosis (SSc) and ANCA-associated vasculitis (AAV) have not been reported. Here we made an attempt to confirm their associations with SLE in the Japanese population, to find the primarily associated SNP, and to investigate whether these SNPs are also associated with susceptibility to SSc and AAV. By genotyping these four SNPs on 842 SLE, 467 SSc, 477 AAV patients and 934 healthy controls, striking association was confirmed in Japanese SLE. In addition, these SNPs were significantly associated with susceptibility to SSc, but not with AAV. Conditional logistic regression analysis revealed that the association of NCF1 rs201802880, a missense SNP encoding p.Arg90His, can account for the association of other SNPs by linkage disequilibrium. These results suggested that GTF2I-NCF1 region is associated with susceptibility to multiple autoimmune rheumatic diseases but not with AAV, and the primarily associated variant may be the missense SNP in NCF1.

Original languageEnglish
Article number16366
JournalScientific reports
Volume9
Issue number1
DOIs
Publication statusPublished - Dec 1 2019

ASJC Scopus subject areas

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    Yokoyama, N., Kawasaki, A., Matsushita, T., Furukawa, H., Kondo, Y., Hirano, F., Sada, K. E., Matsumoto, I., Kusaoi, M., Amano, H., Nagaoka, S., Setoguchi, K., Nagai, T., Shimada, K., Sugii, S., Hashimoto, A., Matsui, T., Okamoto, A., Chiba, N., ... Tsuchiya, N. (2019). Association of NCF1 polymorphism with systemic lupus erythematosus and systemic sclerosis but not with ANCA-associated vasculitis in a Japanese population. Scientific reports, 9(1), [16366]. https://doi.org/10.1038/s41598-019-52920-0