The association of the UHRF1BP1 gene with systemic lupus erythematosus was replicated in a Han Chinese population from mainland China
The association of the UHRF1BP1 gene with systemic lupus erythematosus was replicated in a Han Chinese population from mainland China
复制标题
UHRF1BP1基因与系统性红斑狼疮的关联在中国大陆汉族人群中得到复制
DOI：
10.1111/ahg.12362
复制
发表时间：
2020-05
影响因子：
1.9
通讯作者：
Sheng Yujun
中科院分区：
文献类型：
--
作者：
Wen Leilei;Liu Lu;Shen Xue;Li Hui;Zhu Zhengwei;Huang He;Cai Minglong;Qian Danfeng;Shen Songke;Qiu Ying;Cui Yong;Sheng Yujun
在欧洲和香港中国人中，UHRF基因的单核苷酸多态(SNPs)已被证明与系统性红斑狼疮(SLE)相关，但在中国大陆汉族人群中尚未发现有统计学意义的相关证据。因此，我们选择了位于UHRF1BP1的SNP rs13205210作为候选关联，以探讨UHRF1BP1基因与SLE的相关性。我们在另一个独立样本中进行了一项大规模的复制研究，该样本来自中国大陆汉族人，包括3509例病例和8246名对照。用实时荧光定量聚合酶链式反应(Real-time PCR)检测患者和对照组外周血单个核细胞(PBMC)基因表达的差异。因此，我们通过荟萃分析复制了UHRF1BP1基因与SLE之间的关联(rs13205210，错义，P-META()=2.26E-17，优势比=1.41)，这项复制研究涉及4556例患者和9451名对照。SLE患者PBMCs中UHRF1BP1基因的表达水平明显低于正常对照组。SNP rs13205210对患者外周血单核细胞中UHRF1BP1基因的表达具有数量性状效应。综上所述，本研究不仅提示UHRF1BP1基因与中国大陆汉族人群中的SLE相关，而且提示UHRF1BP1基因可能是多个人群中SLE易感性的共同遗传因素。
Single-nucleotide polymorphisms (SNPs) in the UHRF gene have been shown to be associated with systemic lupus erythematosus (SLE) in European and Hong Kong Chinese, but statistically significant evidence for association has not been found in a mainland Han Chinese population. Therefore, we selected SNP rs13205210 located in UHRF1BP1 as a candidate association from our previously published genome-wide association study (GWAS) data of SLE (1,047 cases and 1,205 controls from a mainland Han Chinese population) to explore the association between the UHRF1BP1 gene and SLE. We conducted a large-scale replication study in an additional independent sample of 3,509 cases and 8,246 controls from a mainland Han Chinese population. Real-time PCR was used to determine gene expression differences in peripheral blood mononuclear cells (PBMCs) from cases and controls. As a result, we replicated the association between the UHRF1BP1 gene and SLE (rs13205210, missense, P-meta( )= 2.26E-17, odds ratio = 1.41) by a meta-analysis of our previous GWAS and this replication study involving a total of 4,556 cases and 9,451 controls. The UHRF1BP1 mRNA expression level in PBMCs was significantly decreased in patients with SLE compared with that in healthy controls. SNP rs13205210 exhibited an expression quantitative trait loci effect on the UHRF1BP1 gene in PBMCs from patients. In conclusion, this study not only suggests that the UHRF1BP1 gene was associated with SLE in a mainland Han Chinese population, but also implied that it might be a common genetic factor contributing to SLE susceptibility in multiple populations.
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中国和欧洲个体的全基因组关联荟萃分析确定了与系统性红斑狼疮相关的十个新位点
影响因子：
30.8
作者：
Morris DL;Sheng Y;Zhang Y;Wang YF;Zhu Z;Tombleson P;Chen L;Cunninghame Graham DS;Bentham J;Roberts AL;Chen R;Zuo X;Wang T;Wen L;Yang C;Liu L;Yang L;Li F;Huang Y;Yin X;Yang S;Rönnblom L;Fürnrohr BG;Voll RE;Schett G;Costedoat-Chalumeau N;Gaffney PM;Lau YL;Zhang X;Yang W;Cui Y;Vyse TJ
通讯作者：
Vyse TJ
免疫相关位点的高密度基因分型识别出亚洲血统个体中新的 SLE 风险变异
影响因子：
30.8
作者：
Sun C;Molineros JE;Looger LL;Zhou XJ;Kim K;Okada Y;Ma J;Qi YY;Kim-Howard X;Motghare P;Bhattarai K;Adler A;Bang SY;Lee HS;Kim TH;Kang YM;Suh CH;Chung WT;Park YB;Choe JY;Shim SC;Kochi Y;Suzuki A;Kubo M;Sumida T;Yamamoto K;Lee SS;Kim YJ;Han BG;Dozmorov M;Kaufman KM;Wren JD;Harley JB;Shen N;Chua KH;Zhang H;Bae SC;Nath SK
通讯作者：
Nath SK
5q31.1的多个变异与中国汉族人群系统性红斑狼疮易感性和亚表型相关
DOI：
10.1111/bjd.15362
发表时间：
2017
期刊：
Br J Dermatol
影响因子：
--
作者：
Wen L;Zhu Z;Yang C;Liu L;Zuo X;Morris DL;Dou J;Ye L;Cheng Y;Guo H;Huang H;Lin Y;Zhu C;Tang L;Chen M;Zhou Y;Ding Y;Liang B;Zhou F;Gao J;Tang X;Zheng X;Wang W;Yin X;Tang H;Sun L;Yang S;Zhang X;Sheng Y;Cui Y
通讯作者：
Cui Y
影响因子：
14.8
作者：
Kumar, Prateek;Henikoff, Steven;Ng, Pauline C.
通讯作者：
Ng, Pauline C.
影响因子：
16.6
作者：
Langefeld CD;Ainsworth HC;Cunninghame Graham DS;Kelly JA;Comeau ME;Marion MC;Howard TD;Ramos PS;Croker JA;Morris DL;Sandling JK;Almlöf JC;Acevedo-Vásquez EM;Alarcón GS;Babini AM;Baca V;Bengtsson AA;Berbotto GA;Bijl M;Brown EE;Brunner HI;Cardiel MH;Catoggio L;Cervera R;Cucho-Venegas JM;Dahlqvist SR;D'Alfonso S;Da Silva BM;de la Rúa Figueroa I;Doria A;Edberg JC;Endreffy E;Esquivel-Valerio JA;Fortin PR;Freedman BI;Frostegård J;García MA;de la Torre IG;Gilkeson GS;Gladman DD;Gunnarsson I;Guthridge JM;Huggins JL;James JA;Kallenberg CGM;Kamen DL;Karp DR;Kaufman KM;Kottyan LC;Kovács L;Laustrup H;Lauwerys BR;Li QZ;Maradiaga-Ceceña MA;Martín J;McCune JM;McWilliams DR;Merrill JT;Miranda P;Moctezuma JF;Nath SK;Niewold TB;Orozco L;Ortego-Centeno N;Petri M;Pineau CA;Pons-Estel BA;Pope J;Raj P;Ramsey-Goldman R;Reveille JD;Russell LP;Sabio JM;Aguilar-Salinas CA;Scherbarth HR;Scorza R;Seldin MF;Sjöwall C;Svenungsson E;Thompson SD;Toloza SMA;Truedsson L;Tusié-Luna T;Vasconcelos C;Vilá LM;Wallace DJ;Weisman MH;Wither JE;Bhangale T;Oksenberg JR;Rioux JD;Gregersen PK;Syvänen AC;Rönnblom L;Criswell LA;Jacob CO;Sivils KL;Tsao BP;Schanberg LE;Behrens TW;Silverman ED;Alarcón-Riquelme ME;Kimberly RP;Harley JB;Wakeland EK;Graham RR;Gaffney PM;Vyse TJ
通讯作者：
Vyse TJ