A multi-ethnic meta-analysis confirms the association of rs6570507 with adolescent idiopathic scoliosis.
A multi-ethnic meta-analysis confirms the association of rs6570507 with adolescent idiopathic scoliosis.
复制标题
DOI：
10.1038/s41598-018-29011-7
复制
发表时间：
2018-08-01
影响因子：
4.6
通讯作者：
Ikegawa S
中科院分区：
文献类型：
--
作者：
Kou I;Watanabe K;Takahashi Y;Momozawa Y;Khanshour A;Grauers A;Zhou H;Liu G;Fan YH;Takeda K;Ogura Y;Zhou T;Iwasaki Y;Kubo M;Wu Z;Matsumoto M;Japan Scoliosis Clinical Research Group (JSCRG);Texas Scottish Rite Hospital for Children Clinical Group (TSRHCCG);Einarsdottir E;Kere J;Huang D;Qiu G;Qiu Y;Wise CA;Song YQ;Wu N;Su P;Gerdhem P;Ikegawa S
青少年特发性脊柱侧凸（AIS）是最常见的脊柱畸形类型，具有重要的遗传背景。全基因组关联研究（GWAS）确定了与AIS相关的几个易感基因座。其中之一是染色体6q24.1上的一个位点，我们在日本队列中通过GWAS确定。该基因座由位于GPR 126内的rs6570507表示。为了确保rs6570507与AIS的关联，我们使用来自东亚、北方和美国的8个队列进行了荟萃分析。该分析共包括6，873例病例和38，916例对照，并产生了显著的相关性（合并P = 2.95 × 10−20;比值比= 1.22），为rs6570507与AIS易感性之间的全球关联提供了令人信服的证据。计算机模拟分析强烈表明GPR 126是该位点的易感基因。
Adolescent idiopathic scoliosis (AIS) is the most common type of spinal deformity and has a significant genetic background. Genome-wide association studies (GWASs) identified several susceptibility loci associated with AIS. Among them is a locus on chromosome 6q24.1 that we identified by a GWAS in a Japanese cohort. The locus is represented by rs6570507 located within GPR126. To ensure the association of rs6570507 with AIS, we conducted a meta-analysis using eight cohorts from East Asia, Northern Europe and USA. The analysis included a total of 6,873 cases and 38,916 controls and yielded significant association (combined P = 2.95 × 10−20; odds ratio = 1.22), providing convincing evidence of the worldwide association between rs6570507 and AIS susceptibility. In silico analyses strongly suggested that GPR126 is a susceptibility gene at this locus.
登录
查看更多内容
影响因子：
9.2
作者：
Chang CC;Chow CC;Tellier LC;Vattikuti S;Purcell SM;Lee JJ
通讯作者：
Lee JJ
影响因子：
64.8
作者：
Dixon JR;Jung I;Selvaraj S;Shen Y;Antosiewicz-Bourget JE;Lee AY;Ye Z;Kim A;Rajagopal N;Xie W;Diao Y;Liang J;Zhao H;Lobanenkov VV;Ecker JR;Thomson JA;Ren B
通讯作者：
Ren B
影响因子：
2.8
作者：
Grauers, Anna;Rahman, Iffat;Gerdhem, Paul
通讯作者：
Gerdhem, Paul
影响因子：
48
作者：
Cuyvers, Elise;De Roeck, Arne;Sleegers, Kristel
通讯作者：
Sleegers, Kristel
DOI：
10.1126/science.1262110
发表时间：
2015-05-08
期刊：
Science (New York, N.Y.)
影响因子：
--
作者：
GTEx Consortium
通讯作者：
GTEx Consortium