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

被引：0

作者：

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 Suematsu

Shigeru 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

机构：

[1] University of Tsukuba,National Hospital Organization Sagamihara National Hospital

[2] Faculty of Medicine,Himeji Medical Center

[3] Molecular and Genetic Epidemiology Laboratory,Morioka Medical Center

[4] University of Tsukuba,Kyushu Medical Center

[5] Graduate School of Comprehensive Human Sciences,Department of Rheumatology, School of Medicine

[6] Master’s Program in Medical Sciences,undefined

[7] Kanazawa University,undefined

[8] Graduate School of Medical Sciences,undefined

[9] Department of Dermatology,undefined

[10] Clinical Research Center for Allergy and Rheumatology,undefined

[11] National Hospital Organization Tokyo National Hospital,undefined

[12] University of Tsukuba,undefined

[13] Faculty of Medicine,undefined

[14] Department of Internal Medicine,undefined

[15] Tokyo Medical and Dental University,undefined

[16] Graduate School of Medical and Dental Sciences,undefined

[17] Department of Rheumatology,undefined

[18] Tokyo Medical and Dental University,undefined

[19] Graduate School of Medical and Dental Sciences,undefined

[20] Department of Lifetime Clinical Immunology,undefined

[21] Okayama University,undefined

[22] Graduate School of Medicine,undefined

[23] Density and Pharmaceutical Sciences,undefined

[24] Department of Nephrology,undefined

[25] Rheumatology,undefined

[26] Endocrinology and Metabolism,undefined

[27] Juntendo University,undefined

[28] School of Medicine,undefined

[29] Department of Internal Medicine and Rheumatology,undefined

[30] Yokohama Minami Kyosai Hospital,undefined

[31] Tokyo Metropolitan Cancer and Infectious Diseases Center Komagome Hospital,undefined

[32] Kitasato University,undefined

[33] Department of Rheumatology and Infectious Diseases,undefined

[34] Tokyo Metropolitan Tama Medical Center,undefined

[35] National Hospital Organization,undefined

[36] National Hospital Organization,undefined

[37] National Hospital Organization,undefined

[38] Yokohama City University Medical Center,undefined

[39] Nagoya Medical Center,undefined

[40] National Hospital Organization,undefined

[41] Fukushima Medical University,undefined

[42] School of Medicine,undefined

[43] Teikyo University School of Medicine,undefined

[44] Department of Internal Medicine,undefined

[45] University of Fukui,undefined

[46] Department of Dermatology,undefined

[47] Juntendo University Koshigaya Hospital,undefined

[48] St. Marianna University,undefined

[49] School of Medicine,undefined

[50] Department of Internal Medicine,undefined

来源：

Scientific Reports | / 9卷

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摘要：

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.

引用

共 33 条

[1]

Parkes M(2013)Genetic insights into common pathways and complex relationships among immune-mediated diseases Nat Rev Genet 14 661-673

[2]

Cortes A(2013)A genome-wide association study in Han Chinese identifies a susceptibility locus for primary Sjögren’s syndrome at 7q11.23 Nat Genet 45 1361-1365

[3]

van Heel DA(2016)High-density genotyping of immune-related loci identifies new SLE risk variants in individuals with Asian ancestry Nat Genet 48 323-330

[4]

Brown MA(2016)Association-heterogeneity mapping identifies an Asian-specific association of the Sci Rep 6 501-511

[5]

Li Y(2017) locus with rheumatoid arthritis Nat Commun 8 25-32

[6]

Sun C(2017)Transancestral mapping and genetic load in systemic lupus erythematosus Trends Mol Med 23 12646-12651

[7]

Kim K(2003)Pathophysiology of TFII-I: Old guard wearing new hats Nat Genet 33 2231-2245

[8]

Langefeld CD(2004)Positional identification of Proc Natl Acad Sci USA 101 433-437

[9]

Roy AL(2014) as a gene that regulates arthritis severity in rats Antioxid Redox Signal 21 1607-1613

[10]

Olofsson P(2017)Enhanced autoimmunity, arthritis, and encephalomyelitis in mice with a reduced oxidative burst due to a mutation in the Nat Genet 49 1406-1410

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