Association of TNFAIP3 interacting protein 1, TNIP1 with systemic lupus erythematosus in a Japanese population: a case-control association study.
Association of TNFAIP3 interacting protein 1, TNIP1 with systemic lupus erythematosus in a Japanese population: a case-control association study.
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DOI：
10.1186/ar3134
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发表时间：
2010
影响因子：
4.9
通讯作者：
Tsuchiya N
中科院分区：
文献类型：
--
作者：
Kawasaki A;Ito S;Furukawa H;Hayashi T;Goto D;Matsumoto I;Kusaoi M;Ohashi J;Graham RR;Matsuta K;Behrens TW;Tohma S;Takasaki Y;Hashimoto H;Sumida T;Tsuchiya N
TNFAIP3 相互作用蛋白 1, TNIP1 (ABIN-1) 通过与 TNF α 诱导蛋白 3, A20 (TNFAIP3) 相互作用，参与抑制核因子 -κB (NF-κB) 激活，TNF α 诱导蛋白 3, A20 (TNFAIP3) 是系统性红斑狼疮 (SLE) 和类风湿性关节炎 (RA) 的已知易感基因。最近的全基因组关联研究揭示了 TNIP1 与白种人和中国人群中的 SLE 的关联。在这项研究中，我们调查了 TNIP1 与 SLE 的关联是否在日本人群中得到了复制。此外，还检查了 TNIP1 与 RA 的关联。对 364 名日本 SLE 患者、553 名 RA 患者和 513 名健康对照者进行了 TNIP1 单核苷酸多态性 (SNP) rs7708392 的病例对照关联研究。 TNIP1 rs7708392C 的关联在日本 SLE 中得到复制（SLE 中的等位基因频率：76.5%，对照：69.9%，P = 0.0022，比值比 [OR] 1.40，95% 置信区间 [CI] 1.13-1.74）。值得注意的是，日本人（69.9%）健康对照中的风险等位基因频率明显高于白种人（24.3%）。与所有 SLE 患者（P = 0.0022，OR 1.40 [95%CI 1.13-1.74]）相比，患有肾脏疾病的 SLE 患者（P = 0.00065，OR 1.60 [95%CI 1.22-2.10]）观察到更强的关联趋势。无论是否携带人类白细胞抗原 DR β1 (HLA-DRB1) 共享表位，均未观察到与 RA 的显着相关性。在 SLE 和 RA 中均未检测到 TNIP1 和 TNFAIP3 之间显着的基因间相互作用。在日本人群中证实了 TNIP1 与 SLE 的关联。 TNIP1 是白种人和亚洲人群共有的 SLE 易感基因，但由于风险等位基因频率较高，因此在日本和中国人群中遗传贡献似乎更大。与 TNFAIP3 的关联一起，这些观察结果强调了 NF-κB 调节在 SLE 发病机制中的关键作用。
TNFAIP3 interacting protein 1, TNIP1 (ABIN-1) is involved in inhibition of nuclear factor-κB (NF-κB) activation by interacting with TNF alpha-induced protein 3, A20 (TNFAIP3), an established susceptibility gene to systemic lupus erythematosus (SLE) and rheumatoid arthritis (RA). Recent genome-wide association studies revealed association of TNIP1 with SLE in the Caucasian and Chinese populations. In this study, we investigated whether the association of TNIP1 with SLE was replicated in a Japanese population. In addition, association of TNIP1 with RA was also examined. A case-control association study was conducted on the TNIP1 single nucleotide polymorphism (SNP) rs7708392 in 364 Japanese SLE patients, 553 RA patients and 513 healthy controls. Association of TNIP1 rs7708392C was replicated in Japanese SLE (allele frequency in SLE: 76.5%, control: 69.9%, P = 0.0022, odds ratio [OR] 1.40, 95% confidence interval [CI] 1.13-1.74). Notably, the risk allele frequency in the healthy controls was considerably greater in Japanese (69.9%) than in Caucasians (24.3%). A tendency of stronger association was observed in the SLE patients with renal disorder (P = 0.00065, OR 1.60 [95%CI 1.22-2.10]) than in all SLE patients (P = 0.0022, OR 1.40 [95%CI 1.13-1.74]). Significant association with RA was not observed, regardless of the carriage of human leukocyte antigen DR β1 (HLA-DRB1) shared epitope. Significant gene-gene interaction between TNIP1 and TNFAIP3 was detected neither in SLE nor RA. Association of TNIP1 with SLE was confirmed in a Japanese population. TNIP1 is a shared SLE susceptibility gene in the Caucasian and Asian populations, but the genetic contribution appeared to be greater in the Japanese and Chinese populations because of the higher risk allele frequency. Taken together with the association of TNFAIP3, these observations underscore the crucial role of NF-κB regulation in the pathogenesis of SLE.
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影响因子：
158.5
作者：
Remmers, Elaine F.;Plenge, Robert M.;Gregersen, Peter K.
通讯作者：
Gregersen, Peter K.
影响因子：
30.8
作者：
Nair RP;Duffin KC;Helms C;Ding J;Stuart PE;Goldgar D;Gudjonsson JE;Li Y;Tejasvi T;Feng BJ;Ruether A;Schreiber S;Weichenthal M;Gladman D;Rahman P;Schrodi SJ;Prahalad S;Guthery SL;Fischer J;Liao W;Kwok PY;Menter A;Lathrop GM;Wise CA;Begovich AB;Voorhees JJ;Elder JT;Krueger GG;Bowcock AM;Abecasis GR;Collaborative Association Study of Psoriasis
通讯作者：
Collaborative Association Study of Psoriasis
影响因子：
64.8
作者：
Oshima, Shigeru;Turer, Emre E.;Callahan, Joseph A.;Chai, Sophia;Advincula, Rommel;Barrera, Julio;Shifrin, Nataliya;Lee, Bettina;Yen, Benjamin;Woo, Tammy;Malynn, Barbara A.;Ma, Averil
通讯作者：
Ma, Averil
影响因子：
30.8
作者：
通讯作者：
--
影响因子：
6.4
作者：
Kalergis, Alexis M.;Iruretagoyena, Mirentxu I.;Jacobelli, Sergio H.
通讯作者：
Jacobelli, Sergio H.