The association of a nonsynonymous single-nucleotide polymorphism in TNFAIP3 with systemic lupus erythematosus and rheumatoid arthritis in the japanese population

Kenichi Shimane, Yuta Kochi, Tetsuya Horita, Katsunori Ikari, Hirofumi Amano, Michito Hirakata, Akiko Okamoto, Ryo Yamada, Keiko Myouzen, Akari Suzuki, Michiaki Kubo, Tatsuya Atsumi, Takao Koike, Yoshinari Takasaki, Shigeki Momohara, Hisashi Yamanaka, Yusuke Nakamura, Kazuhiko Yamamoto

Research output: Contribution to journalArticle

64 Citations (Scopus)

Abstract

Objective. Genome-wide association (GWA) studies in systemic lupus erythematosus (SLE) and rheumatoid arthritis (RA) in Caucasian populations have independently identified risk variants in and near the tumor necrosis factor α (TNFα)-induced protein 3 gene (TNFAIP3), which is crucial for the regulation of TNF-mediated signaling and Toll-like receptor signaling. The aim of this study was to assess the role of TNFAIP3 in the development of SLE and RA in Japanese subjects. Methods. We selected 2 single-nucleotide polymorphisms (SNPs) from previous GWA studies. Rs2230926 is a nonsynonymous SNP in TNFAIP3 and is associated with SLE, while rs10499194 is an intergenic SNP associated with RA. We then performed 2 independent sets of SLE case-control comparisons (717 patients and 1,362 control subjects) and 3 sets of RA case-control comparisons (3,446 patients and 2,344 control subjects) using Japanese subjects. We genotyped SNPs using TaqMan assays. Results. We observed a significant association between rs2230926 and an increased risk of SLE and RA in the Japanese population (for SLE, odds ratio [OR] 1.92, 95% confidence interval [95% CI] 1.53-2.41, P = 1.9 × 10-8; for RA, OR 1.35, 95% CI 1.18-1.56, P = 2.6 × 10-5). The intergenic SNP rs10499194 was also associated with SLE and RA, while the risk allele for RA in Caucasians was protective against the diseases in our population. Conclusion. We demonstrated a significant association between the nonsynonymous variant in TNFAIP3 and the risk for SLE and RA in the Japanese population. TNFAIP3, similar to STAT4 and IRF5, may be a common genetic risk factor for SLE and RA that is shared between the Caucasian and Japanese populations.

Original languageEnglish
Pages (from-to)574-579
Number of pages6
JournalArthritis and Rheumatism
Volume62
Issue number2
DOIs
Publication statusPublished - 2010 Feb

Fingerprint

Systemic Lupus Erythematosus
Single Nucleotide Polymorphism
Rheumatoid Arthritis
Population
Genome-Wide Association Study
Tumor Necrosis Factor-alpha
Odds Ratio
Confidence Intervals
Toll-Like Receptors
Alleles

ASJC Scopus subject areas

  • Immunology
  • Immunology and Allergy
  • Rheumatology
  • Pharmacology (medical)

Cite this

The association of a nonsynonymous single-nucleotide polymorphism in TNFAIP3 with systemic lupus erythematosus and rheumatoid arthritis in the japanese population. / Shimane, Kenichi; Kochi, Yuta; Horita, Tetsuya; Ikari, Katsunori; Amano, Hirofumi; Hirakata, Michito; Okamoto, Akiko; Yamada, Ryo; Myouzen, Keiko; Suzuki, Akari; Kubo, Michiaki; Atsumi, Tatsuya; Koike, Takao; Takasaki, Yoshinari; Momohara, Shigeki; Yamanaka, Hisashi; Nakamura, Yusuke; Yamamoto, Kazuhiko.

In: Arthritis and Rheumatism, Vol. 62, No. 2, 02.2010, p. 574-579.

Research output: Contribution to journalArticle

Shimane, K, Kochi, Y, Horita, T, Ikari, K, Amano, H, Hirakata, M, Okamoto, A, Yamada, R, Myouzen, K, Suzuki, A, Kubo, M, Atsumi, T, Koike, T, Takasaki, Y, Momohara, S, Yamanaka, H, Nakamura, Y & Yamamoto, K 2010, 'The association of a nonsynonymous single-nucleotide polymorphism in TNFAIP3 with systemic lupus erythematosus and rheumatoid arthritis in the japanese population', Arthritis and Rheumatism, vol. 62, no. 2, pp. 574-579. https://doi.org/10.1002/art.27190
Shimane, Kenichi ; Kochi, Yuta ; Horita, Tetsuya ; Ikari, Katsunori ; Amano, Hirofumi ; Hirakata, Michito ; Okamoto, Akiko ; Yamada, Ryo ; Myouzen, Keiko ; Suzuki, Akari ; Kubo, Michiaki ; Atsumi, Tatsuya ; Koike, Takao ; Takasaki, Yoshinari ; Momohara, Shigeki ; Yamanaka, Hisashi ; Nakamura, Yusuke ; Yamamoto, Kazuhiko. / The association of a nonsynonymous single-nucleotide polymorphism in TNFAIP3 with systemic lupus erythematosus and rheumatoid arthritis in the japanese population. In: Arthritis and Rheumatism. 2010 ; Vol. 62, No. 2. pp. 574-579.
@article{d80f21dbcc9045c6b38e8e9a41df4768,
title = "The association of a nonsynonymous single-nucleotide polymorphism in TNFAIP3 with systemic lupus erythematosus and rheumatoid arthritis in the japanese population",
abstract = "Objective. Genome-wide association (GWA) studies in systemic lupus erythematosus (SLE) and rheumatoid arthritis (RA) in Caucasian populations have independently identified risk variants in and near the tumor necrosis factor α (TNFα)-induced protein 3 gene (TNFAIP3), which is crucial for the regulation of TNF-mediated signaling and Toll-like receptor signaling. The aim of this study was to assess the role of TNFAIP3 in the development of SLE and RA in Japanese subjects. Methods. We selected 2 single-nucleotide polymorphisms (SNPs) from previous GWA studies. Rs2230926 is a nonsynonymous SNP in TNFAIP3 and is associated with SLE, while rs10499194 is an intergenic SNP associated with RA. We then performed 2 independent sets of SLE case-control comparisons (717 patients and 1,362 control subjects) and 3 sets of RA case-control comparisons (3,446 patients and 2,344 control subjects) using Japanese subjects. We genotyped SNPs using TaqMan assays. Results. We observed a significant association between rs2230926 and an increased risk of SLE and RA in the Japanese population (for SLE, odds ratio [OR] 1.92, 95{\%} confidence interval [95{\%} CI] 1.53-2.41, P = 1.9 × 10-8; for RA, OR 1.35, 95{\%} CI 1.18-1.56, P = 2.6 × 10-5). The intergenic SNP rs10499194 was also associated with SLE and RA, while the risk allele for RA in Caucasians was protective against the diseases in our population. Conclusion. We demonstrated a significant association between the nonsynonymous variant in TNFAIP3 and the risk for SLE and RA in the Japanese population. TNFAIP3, similar to STAT4 and IRF5, may be a common genetic risk factor for SLE and RA that is shared between the Caucasian and Japanese populations.",
author = "Kenichi Shimane and Yuta Kochi and Tetsuya Horita and Katsunori Ikari and Hirofumi Amano and Michito Hirakata and Akiko Okamoto and Ryo Yamada and Keiko Myouzen and Akari Suzuki and Michiaki Kubo and Tatsuya Atsumi and Takao Koike and Yoshinari Takasaki and Shigeki Momohara and Hisashi Yamanaka and Yusuke Nakamura and Kazuhiko Yamamoto",
year = "2010",
month = "2",
doi = "10.1002/art.27190",
language = "English",
volume = "62",
pages = "574--579",
journal = "Arthritis and Rheumatology",
issn = "2326-5191",
publisher = "John Wiley and Sons Ltd",
number = "2",

}

TY - JOUR

T1 - The association of a nonsynonymous single-nucleotide polymorphism in TNFAIP3 with systemic lupus erythematosus and rheumatoid arthritis in the japanese population

AU - Shimane, Kenichi

AU - Kochi, Yuta

AU - Horita, Tetsuya

AU - Ikari, Katsunori

AU - Amano, Hirofumi

AU - Hirakata, Michito

AU - Okamoto, Akiko

AU - Yamada, Ryo

AU - Myouzen, Keiko

AU - Suzuki, Akari

AU - Kubo, Michiaki

AU - Atsumi, Tatsuya

AU - Koike, Takao

AU - Takasaki, Yoshinari

AU - Momohara, Shigeki

AU - Yamanaka, Hisashi

AU - Nakamura, Yusuke

AU - Yamamoto, Kazuhiko

PY - 2010/2

Y1 - 2010/2

N2 - Objective. Genome-wide association (GWA) studies in systemic lupus erythematosus (SLE) and rheumatoid arthritis (RA) in Caucasian populations have independently identified risk variants in and near the tumor necrosis factor α (TNFα)-induced protein 3 gene (TNFAIP3), which is crucial for the regulation of TNF-mediated signaling and Toll-like receptor signaling. The aim of this study was to assess the role of TNFAIP3 in the development of SLE and RA in Japanese subjects. Methods. We selected 2 single-nucleotide polymorphisms (SNPs) from previous GWA studies. Rs2230926 is a nonsynonymous SNP in TNFAIP3 and is associated with SLE, while rs10499194 is an intergenic SNP associated with RA. We then performed 2 independent sets of SLE case-control comparisons (717 patients and 1,362 control subjects) and 3 sets of RA case-control comparisons (3,446 patients and 2,344 control subjects) using Japanese subjects. We genotyped SNPs using TaqMan assays. Results. We observed a significant association between rs2230926 and an increased risk of SLE and RA in the Japanese population (for SLE, odds ratio [OR] 1.92, 95% confidence interval [95% CI] 1.53-2.41, P = 1.9 × 10-8; for RA, OR 1.35, 95% CI 1.18-1.56, P = 2.6 × 10-5). The intergenic SNP rs10499194 was also associated with SLE and RA, while the risk allele for RA in Caucasians was protective against the diseases in our population. Conclusion. We demonstrated a significant association between the nonsynonymous variant in TNFAIP3 and the risk for SLE and RA in the Japanese population. TNFAIP3, similar to STAT4 and IRF5, may be a common genetic risk factor for SLE and RA that is shared between the Caucasian and Japanese populations.

AB - Objective. Genome-wide association (GWA) studies in systemic lupus erythematosus (SLE) and rheumatoid arthritis (RA) in Caucasian populations have independently identified risk variants in and near the tumor necrosis factor α (TNFα)-induced protein 3 gene (TNFAIP3), which is crucial for the regulation of TNF-mediated signaling and Toll-like receptor signaling. The aim of this study was to assess the role of TNFAIP3 in the development of SLE and RA in Japanese subjects. Methods. We selected 2 single-nucleotide polymorphisms (SNPs) from previous GWA studies. Rs2230926 is a nonsynonymous SNP in TNFAIP3 and is associated with SLE, while rs10499194 is an intergenic SNP associated with RA. We then performed 2 independent sets of SLE case-control comparisons (717 patients and 1,362 control subjects) and 3 sets of RA case-control comparisons (3,446 patients and 2,344 control subjects) using Japanese subjects. We genotyped SNPs using TaqMan assays. Results. We observed a significant association between rs2230926 and an increased risk of SLE and RA in the Japanese population (for SLE, odds ratio [OR] 1.92, 95% confidence interval [95% CI] 1.53-2.41, P = 1.9 × 10-8; for RA, OR 1.35, 95% CI 1.18-1.56, P = 2.6 × 10-5). The intergenic SNP rs10499194 was also associated with SLE and RA, while the risk allele for RA in Caucasians was protective against the diseases in our population. Conclusion. We demonstrated a significant association between the nonsynonymous variant in TNFAIP3 and the risk for SLE and RA in the Japanese population. TNFAIP3, similar to STAT4 and IRF5, may be a common genetic risk factor for SLE and RA that is shared between the Caucasian and Japanese populations.

UR - http://www.scopus.com/inward/record.url?scp=75749156268&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=75749156268&partnerID=8YFLogxK

U2 - 10.1002/art.27190

DO - 10.1002/art.27190

M3 - Article

VL - 62

SP - 574

EP - 579

JO - Arthritis and Rheumatology

JF - Arthritis and Rheumatology

SN - 2326-5191

IS - 2

ER -