Cross-ethnic meta-analysis identifies association of the GPX3-TNIP1 locus with amyotrophic lateral sclerosis.
Cross-ethnic meta-analysis identifies association of the GPX3-TNIP1 locus with amyotrophic lateral sclerosis.
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跨种族荟萃分析确定 GPX3-TNIP1 基因座与肌萎缩侧索硬化症的关联
DOI：
10.1038/s41467-017-00471-1
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发表时间：
2017-09-20
影响因子：
16.6
通讯作者：
Fan D
中科院分区：
文献类型：
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作者：
Benyamin B;He J;Zhao Q;Gratten J;Garton F;Leo PJ;Liu Z;Mangelsdorf M;Al-Chalabi A;Anderson L;Butler TJ;Chen L;Chen XD;Cremin K;Deng HW;Devine M;Edson J;Fifita JA;Furlong S;Han YY;Harris J;Henders AK;Jeffree RL;Jin ZB;Li Z;Li T;Li M;Lin Y;Liu X;Marshall M;McCann EP;Mowry BJ;Ngo ST;Pamphlett R;Ran S;Reutens DC;Rowe DB;Sachdev P;Shah S;Song S;Tan LJ;Tang L;van den Berg LH;van Rheenen W;Veldink JH;Wallace RH;Wheeler L;Williams KL;Wu J;Wu X;Yang J;Yue W;Zhang ZH;Zhang D;Noakes PG;Blair IP;Henderson RD;McCombe PA;Visscher PM;Xu H;Bartlett PF;Brown MA;Wray NR;Fan D
跨种族遗传研究可以利用疾病流行病学和人群特异性遗传结构差异的力量。特别是，在种族群体之间的连锁不平衡和等位基因频率模式的差异可能会增加基因定位的分辨率。在这里，我们使用了散发性肌萎缩侧索硬化症（ALS）的跨种族遗传数据，ALS是一种成人发病的快速进展的神经退行性疾病。我们报告了对1，234例ALS病例和2，850例对照的新型全基因组关联研究数据的分析。我们发现跨越GPX3-TNIP1的rs10463311与ALS显著相关（p = 1.3 × 10 − 8），来自两个独立的澳大利亚样本（合并576例病例和683例对照，p = 1.7 × 10 − 3）的复制支持。GPX3和TNIP1都与其他已知的ALS基因（分别为SOD1和OPTN）相互作用。此外，使用基于基因的分析和基于遗传学的孟德尔随机化分析鉴定了GGNBP2，尽管需要进一步的重复来确认该结果。我们的研究结果增加了我们对ALS遗传病因学的理解。
Cross-ethnic genetic studies can leverage power from differences in disease epidemiology and population-specific genetic architecture. In particular, the differences in linkage disequilibrium and allele frequency patterns across ethnic groups may increase gene-mapping resolution. Here we use cross-ethnic genetic data in sporadic amyotrophic lateral sclerosis (ALS), an adult-onset, rapidly progressing neurodegenerative disease. We report analyses of novel genome-wide association study data of 1,234 ALS cases and 2,850 controls. We find a significant association of rs10463311 spanning GPX3-TNIP1 with ALS (p = 1.3 × 10−8), with replication support from two independent Australian samples (combined 576 cases and 683 controls, p = 1.7 × 10−3). Both GPX3 and TNIP1 interact with other known ALS genes (SOD1 and OPTN, respectively). In addition, GGNBP2 was identified using gene-based analysis and summary statistics-based Mendelian randomization analysis, although further replication is needed to confirm this result. Our results increase our understanding of genetic aetiology of ALS.
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影响因子：
30.8
作者：
Marchini, Jonathan;Howie, Bryan;Donnelly, Peter
通讯作者：
Donnelly, Peter
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
DOI：
10.1126/science.aaa3650
发表时间：
2015-03-27
期刊：
Science (New York, N.Y.)
影响因子：
--
作者：
Cirulli ET;Lasseigne BN;Petrovski S;Sapp PC;Dion PA;Leblond CS;Couthouis J;Lu YF;Wang Q;Krueger BJ;Ren Z;Keebler J;Han Y;Levy SE;Boone BE;Wimbish JR;Waite LL;Jones AL;Carulli JP;Day-Williams AG;Staropoli JF;Xin WW;Chesi A;Raphael AR;McKenna-Yasek D;Cady J;Vianney de Jong JM;Kenna KP;Smith BN;Topp S;Miller J;Gkazi A;FALS Sequencing Consortium;Al-Chalabi A;van den Berg LH;Veldink J;Silani V;Ticozzi N;Shaw CE;Baloh RH;Appel S;Simpson E;Lagier-Tourenne C;Pulst SM;Gibson S;Trojanowski JQ;Elman L;McCluskey L;Grossman M;Shneider NA;Chung WK;Ravits JM;Glass JD;Sims KB;Van Deerlin VM;Maniatis T;Hayes SD;Ordureau A;Swarup S;Landers J;Baas F;Allen AS;Bedlack RS;Harper JW;Gitler AD;Rouleau GA;Brown R;Harms MB;Cooper GM;Harris T;Myers RM;Goldstein DB
通讯作者：
Goldstein DB
影响因子：
30.8
作者：
Bulik-Sullivan, Brendan K.;Loh, Po-Ru;Finucane, Hilary K.;Ripke, Stephan;Yang, Jian;Patterson, Nick;Daly, Mark J.;Price, Alkes L.;Neale, Benjamin M.
通讯作者：
Neale, Benjamin M.
影响因子：
4.6
作者：
Bakshi A;Zhu Z;Vinkhuyzen AA;Hill WD;McRae AF;Visscher PM;Yang J
通讯作者：
Yang J