Epistatic Association of CD14 and NOTCH2 Genetic Polymorphisms with Biliary Atresia in a Southern Chinese Population.
Epistatic Association of CD14 and NOTCH2 Genetic Polymorphisms with Biliary Atresia in a Southern Chinese Population.
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CD14和NOTCH2基因多态性与中国南方人群胆道闭锁的上位关联
DOI：
10.1016/j.omtn.2018.10.006
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发表时间：
2018-12-07
期刊：
影响因子：
--
通讯作者：
Zhang R
中科院分区：
文献类型：
--
作者：
Lin Z;Xie X;Lin H;Fu M;Su L;Tong Y;Chen H;Wang H;Zhao J;Xia H;Zhang Y;Zhang R
胆道闭锁（BA）是婴儿终末期肝病最常见的原因，预后差，死亡率高。BA的病因尚不清楚，但遗传因素已被认为是BA的重要因素。我们研究了CD 14（rs 2569190）和NOTCH 2（rs 835576）中两种顺式调节变体与BA易感性的关系，使用了最大的病例对照队列，在中国南方人群中共有506名BA患者和1，473名健康对照。在我们的样本中，观察到两种变体之间存在显著的上位相互作用（p = 8.1E−03; OR = 2.78; 95%CI：1.32-5.88）。BA组CD 14和NOTCH 2的表达均低于对照组（0.31 ± 0.02比1.00 ± 0.14; p < 0.001），可能与基因的遗传易感性有关，有待进一步验证。
Biliary atresia (BA) is the most common cause of endstage liver disease in infants with poor prognosis and high mortality. The etiology of BA is still unknown, but the genetic factors have been considered as an important player in BA. We investigated the association of two cis-regulated variants in CD14 (rs2569190) and NOTCH2 (rs835576) with BA susceptibility, using the largest case-control cohort, totaling 506 BA patients and 1,473 healthy controls in a Southern Chinese population. Significant epistatic interaction between the two variants in our samples was observed (p = 8.1E−03; OR = 2.78; 95% CI: 1.32–5.88). The expression of CD14 and NOTCH2 in the BA group was consistently lower than that in the control (CC) group (0.31 ± 0.02 versus 1.00 ± 0.14; p < 0.001), which might be related to the genetic susceptibility of the genes awaiting further validation.
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影响因子：
--
作者：
Sanchez-Valle, Amarilis;Kassira, Noor;Kirby, Russell S
通讯作者：
Kirby, Russell S
影响因子：
3.1
作者：
Arikan, Cigdem;Berdeli, Afig;Aydogdu, Sema
通讯作者：
Aydogdu, Sema
影响因子：
82.9
作者：
通讯作者：
--
影响因子：
30.8
作者：
Li, LH;Krantz, ID;Spinner, NB
通讯作者：
Spinner, NB
DOI：
10.1097/01.mpg.0000192247.55583.fa
发表时间：
2006-01-01
影响因子：
2.9
作者：
Arikan, C;Berdeli, A;Aydogdu, S
通讯作者：
Aydogdu, S