Association of IL17RC and COL6A1 genetic polymorphisms with susceptibility to ossification of the thoracic posterior longitudinal ligament in Chinese patients.
Association of IL17RC and COL6A1 genetic polymorphisms with susceptibility to ossification of the thoracic posterior longitudinal ligament in Chinese patients.
复制标题
IL17RC和COL6A1基因多态性与中国患者胸椎后纵韧带骨化易感性的关系
DOI：
10.1186/s13018-018-0817-y
复制
发表时间：
2018-05-15
影响因子：
2.6
通讯作者：
Liu X
中科院分区：
文献类型：
--
作者：
Wang P;Liu X;Zhu B;Ma Y;Yong L;Teng Z;Liang C;He G;Liu X
在我们先前对30例无血缘关系的中国北方汉族患者的全基因组测序研究中，我们发现了白细胞介素17受体C(IL17RC)和VI型胶原α1链(COL6A1)基因的6个单核苷酸多态(SNP)，它们可能与胸椎后纵韧带骨化(T-OPLL)相关。为了确定这6个SNP是否与中国北方汉族人群T-OPLL易感性有关，我们进行了病例对照关联研究，以确定扩大样本中的特定易感基因。应用Sequenom系统对200名中国北方人(100名患者和100名对照)的IL17RC和COL6A1基因的6个SNPs进行了分析。比较对照组和患者组各SNP的基因分布和等位基因频率。在中国北方汉族人群中，rs201153092、rs13051496、rs199772854、rs76999397和rs189013166可能是T-OPLL的致病基因座，而rs151158105不是。在基因水平上，rs201153092、rs13051496、rs199772854、rs76999397和rs189013166在T-OPLL患者和对照组之间的分布差异有统计学意义。据我们所知，这是中国汉族人T-OPLL易感基因的首次关联研究。结果发现，IL17RC和COL6A1基因中的5个SNPs代表了T-OPLL患者潜在的致病突变。
In our previous whole-genome sequencing study of 30 unrelated northern Chinese Han patients, we identified six single nucleotide polymorphisms (SNPs) in the interleukin 17 receptor C (IL17RC) and collagen type VI α1 chain (COL6A1) genes that were potentially associated with thoracic ossification of the posterior longitudinal ligament (T-OPLL). To determine whether these six SNPs are associated with susceptibility to T-OPLL in the northern Chinese Han population, we performed a case-control association study to confirm specific susceptible loci in the expanded samples. The six SNPs in the IL17RC and COL6A1 genes were analyzed in 200 northern Chinese individuals (100 patients and 100 control subjects) using the Sequenom system. The genotype distributions and allele frequencies of each SNP in the control and patient groups were compared. rs201153092, rs13051496, rs199772854, rs76999397, and rs189013166 showed potential pathogenic loci for T-OPLL in the northern Chinese Han population, whereas rs151158105 did not. At the genotype level, the differences in the genotype frequencies of rs201153092, rs13051496, rs199772854, rs76999397, and rs189013166 between T-OPLL cases and controls reached statistical significance. To the best of our knowledge, this is the first association study of susceptibility genes in Han Chinese patients with T-OPLL. The results revealed five SNPs in the IL17RC and COL6A1 genes that represented potentially pathogenic mutations in patients with T-OPLL.
登录
查看更多内容
影响因子：
9
作者：
Ho, Allen W.;Gaffen, Sarah L.
通讯作者：
Gaffen, Sarah L.
DOI：
10.2183/pjab.90.405
发表时间：
2014
期刊：
Proceedings of the Japan Academy. Series B, Physical and biological sciences
影响因子：
--
作者：
Ikegawa S
通讯作者：
Ikegawa S
影响因子：
6.2
作者：
Furushima, K;Shimo-Onoda, K;Inoue, I
通讯作者：
Inoue, I
中国患者骨形态发生蛋白2基因多态性与脊柱后纵韧带骨化易感性及其严重程度的关系
影响因子：
2.8
作者：
Wang, Hao;Liu, Dongmei;Yang, Zhaohui;Tian, Baopeng;Li, Jie;Meng, Xianglong;Wang, Zhentian;Yang, Hui;Lin, Xin
通讯作者：
Lin, Xin
影响因子：
0.4
作者：
Han, I. B.;Ropper, A. E.;Kim, N-K
通讯作者：
Kim, N-K