Significant Association of rs2147555 Genetic Polymorphism in the EDNRB Gene with Hirschsprung Disease in Southern Chinese Children.
Significant Association of rs2147555 Genetic Polymorphism in the EDNRB Gene with Hirschsprung Disease in Southern Chinese Children.
复制标题
DOI：
10.1155/2020/5956412
复制
发表时间：
2020
影响因子：
--
通讯作者：
Li C
中科院分区：
文献类型：
--
作者：
Zheng Y;Lan C;Wang N;Xu X;Hu T;Wu Q;Xie X;Wang Z;Zhang Y;Li C
先天性巨结肠症（HSCR）是一种临床上常见的人类出生缺陷，其特征是远端肠神经系统（ENS）缺失。大多数HSCR病例是一种复杂的疾病，由多种遗传和环境因素的相互作用引起。遗传事件已被描述为参与肠神经系统的异常发育。尽管RET和EDNRB等几个基因的变异被认为是HSCR的主要风险，但对它们参与HSCR的发病知之甚少。在这里，我们研究了一个由1,470名HSCR患者和1,473名非HSCR对照组成的大型中国汉族队列，以进一步测试是否有更多的EDNRB变异与HSCR相关。我们的研究结果提供了第一个证据，即在中国汉族人群中，EDNRB中的rs 2147555对等位基因频率（P = 4.16 × 10−3; OR = 1.29）和基因型频率（假设为显性或隐性模型，分别为P = 0.011和P = 0.027）都具有显著的HSCR风险。当分析不同亚型的HSCR病例时，相关性仍然显著（短段HSCR的OR = 1.33，P = 0.003;长段HSCR的OR = 1.34，P = 0.044）。
Hirschsprung disease (HSCR) is a human birth defect at the clinical setting, usually characterized by an absent enteric nervous system (ENS) from the distal bowel. The majority of HSCR cases represent a complex disorder resulting from the interaction of multiple genetic and environmental factors. Genetic events have been described to be involved in the abnormal development of the enteric nervous system. Although variants in several genes like RET and EDNRB have been suggested to contribute major risks to HSCR, very little is known about their involvement in the onset of HSCR. Here, we studied a large Chinese Han cohort consisting of 1,470 HSCR patients and 1,473 non-HSCR controls to further test whether there are more variants in EDNRB associated with HSCR. Our results provided the first evidence that rs2147555 in EDNRB confers a significant risk of HSCR in a Chinese Han population for both allelic frequencies (P = 4.16 × 10−3; OR = 1.29) and genotypic frequencies assuming either a dominant or recessive model (P = 0.011 and P = 0.027, respectively). When different subtypes of HSCR cases were analyzed, the association remained significant (OR = 1.33, P = 0.003 for short-segment HSCR; OR = 1.34, P = 0.044 for long segment HSCR).
登录
查看更多内容
影响因子：
9.8
作者：
Emison, Eileen Sproat;Garcia-Barcelo, Merce;Chakravarti, Aravinda
通讯作者：
Chakravarti, Aravinda
影响因子：
2.7
作者：
Torroglosa, A.;Alves, M. M.;Borrego, S.
通讯作者：
Borrego, S.
影响因子：
30.8
作者：
Carrasquillo, MM;McCallion, AS;Chakravarti, A
通讯作者：
Chakravarti, A
影响因子：
2.5
作者：
Kim, Jason Yongha;Seo, Jeong-Meen;Shin, Hyoung Doo
通讯作者：
Shin, Hyoung Doo
影响因子：
5.3
作者：
Gui, Hongsheng;Tang, Wai-Kiu;Garcia-Barcelo, Maria-Merce
通讯作者：
Garcia-Barcelo, Maria-Merce