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

Author:

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

Abstract

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.

Funder

Japan Agency for Medical Research and Development

Japan College of Rheumatology, Japan Rheumatism Association

Publisher

Springer Science and Business Media LLC

Subject

Multidisciplinary

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