Genetic predisposition to necrotizing enterocolitis in premature infants: Current knowledge, challenges, and future directions.
Genetic predisposition to necrotizing enterocolitis in premature infants: Current knowledge, challenges, and future directions.
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DOI：
10.1016/j.siny.2018.08.006
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发表时间：
2018-12
影响因子：
3
通讯作者：
Sampath V
中科院分区：
文献类型：
--
作者：
Cuna A;George L;Sampath V
遗传学在坏死性小肠结肠炎（NEC）发病机制中的作用最初是由流行病学数据提供的，这些数据表明不同种族之间的患病率差异以及双胞胎的一致性。这些早期的观察，加上基因组研究的重大进展，为开始揭示遗传学对NEC的贡献的研究铺平了道路。使用候选基因或途径的方法，早产儿NEC的几个潜在的致病性变异已经被确定。最近，NEC的外显子组和全基因组关联研究也已完成。然而，这些进展由于缺乏足够有力的复制队列来验证这些发现的准确性而受到影响。尽管面临许多挑战，但NEC的遗传学研究预计将增加，为其发病机制提供新的见解，并使个性化护理的承诺更接近现实。在这篇综述中，我们提供了一个总结NEC的遗传学研究沿着定义的挑战和未来可能的方法。
The role of genetics in the pathogenesis of necrotizing enterocolitis (NEC) was initially informed by epidemiological data indicating differences in prevalence among different ethnic groups as well as concordance in twins. These early observations, together with major advances in genomic research, paved the way for studies that begin to reveal the contribution of genetics to NEC. Using the candidate gene- or pathway approach, several potential pathogenic variants for NEC in premature infants have already been identified. More recently, exome- and genome-wide association study for NEC has also been completed. These advances, however, are tempered by the lack of adequately powered replication cohorts to validate the accuracy of these discoveries. Despite many challenges, genetic research in NEC is expected to increase, providing new insights into its pathogenesis and bringing the promise of personalized care closer to reality. In this review we provide a summary of genetic studies in NEC along with defining the challenges and possible future approaches.
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