Association between common variants near LBX1 and adolescent idiopathic scoliosis replicated in the Chinese Han population.
Association between common variants near LBX1 and adolescent idiopathic scoliosis replicated in the Chinese Han population.
复制标题
LBX1附近的常见变异与中国汉族人群中复制的青少年特发性脊柱侧凸之间的关联
DOI：
10.1371/journal.pone.0053234
复制
发表时间：
2013
期刊：
影响因子：
3.7
通讯作者：
Huang D
中科院分区：
文献类型：
--
作者：
Gao W;Peng Y;Liang G;Liang A;Ye W;Zhang L;Sharma S;Su P;Huang D
青少年特发性脊柱侧凸（adolescentidiopathicscoliosis，AIS）是青少年最常见的脊柱畸形之一。最近，在日本人群中进行的全基因组关联研究（GWAS）表明，位于LBX 1基因附近的三个单核苷酸多态性（SNP）rs 11190870、rs625039和rs 11598564可能与AIS易感性相关[1]。这项研究提出了一个新的AIS易感性候选基因，并支持躯体感觉功能障碍可能有助于AIS发病机制的假设。这些发现值得在其他人群中复制。首先，我们进行了一项病例对照研究，包括953名来自中国南方的中国汉族人（513名患者和440名健康对照），发现三个SNP都与AIS易感性相关。观察到rs625039、rs 11190870和rs 11598564的OR分别为1.49（95% CI 1.23-1.80，P = 5.09E-5）、1.70（95% CI 1.42-2.04，P = 1.17E-8）和1.52（95% CI 1.27-1.83，P = 5.54E-6）。 其次，进行了一项仅病例研究，包括AIS患者亚组（N = 234），以确定这些变异对病情严重程度的影响。 然而，我们没有发现这些变异与弯曲的严重程度之间有任何关联。结论LBX 1基因附近的遗传变异与中国汉族人群AIS的易感性相关。它成功地复制了在日本人群中进行的GWAS的结果。
Background Adolescent idiopathic scoliosis (AIS) is one of the most common spinal deformities found in adolescent populations. Recently, a genome-wide association study (GWAS) in a Japanese population indicated that three single nucleotide polymorphisms (SNPs), rs11190870, rs625039 and rs11598564, all located near the LBX1 gene, may be associated with AIS susceptibility [1]. This study suggests a novel AIS predisposition candidate gene and supports the hypothesis that somatosensory functional disorders could contribute to the pathogenesis of AIS. These findings warrant replication in other populations. Methodology/Principal Findings First, we conducted a case-control study consisting of 953 Chinese Han individuals from southern China (513 patients and 440 healthy controls), and the three SNPs were all found to be associated with AIS predisposition. The ORs were observed as 1.49 (95% CI 1.23–1.80, P = 5.09E-5), 1.70 (95% CI 1.42–2.04, P = 1.17E-8) and 1.52 (95% CI 1.27–1.83, P = 5.54E-6) for rs625039, rs11190870 and rs11598564, respectively. Second, a case-only study including a subgroup of AIS patients (N = 234) was performed to determine the effects of these variants on the severity of the condition. However, we did not find any association between these variants and the severity of curvature. Conclusion This study shows that the genetic variants near the LBX1 gene are associated with AIS susceptibility in Chinese Han population. It successfully replicates the results of the GWAS, which was performed in a Japanese population.
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DOI：
10.1186/1748-7161-1-2
发表时间：
2006-03-31
期刊：
Scoliosis
影响因子：
--
作者：
Asher MA;Burton DC
通讯作者：
Burton DC
影响因子：
3
作者：
Inoue, M;Minami, S;Moriya, H
通讯作者：
Moriya, H
影响因子：
3
作者：
Guo, Xia;Chau, W. W.;Cheng, Jack C. Y.
通讯作者：
Cheng, Jack C. Y.
DOI：
10.1073/pnas.021506298
发表时间：
2001-01-16
影响因子：
11.1
作者：
Buetow, KH;Edmonson, M;Braun, A
通讯作者：
Braun, A
影响因子：
3
作者：
BARRIOS, C;TUNON, MT;CANADELL, J
通讯作者：
CANADELL, J