Division of Neonatology, Department of Pediatrics, Children's Mercy Kansas City, Kansas City, MO, USA.
Division of Neonatology, Department of Pediatrics, Children's Mercy Kansas City, Kansas City, MO, USA.
Semin Fetal Neonatal Med. 2018 Dec;23(6):387-393. doi: 10.1016/j.siny.2018.08.006. Epub 2018 Aug 18.
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, genome-wide association studies and exome-sequencing based studies for NEC have been reported. 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.
遗传在坏死性小肠结肠炎（NEC）发病机制中的作用最初是通过流行病学数据得到的，这些数据表明不同种族之间的患病率存在差异，以及双胞胎之间的一致性。这些早期观察结果，再加上基因组研究的重大进展，为研究遗传对 NEC 的贡献铺平了道路。使用候选基因或途径方法，已经确定了早产儿 NEC 的几个潜在致病变异。最近，已经报道了针对 NEC 的全基因组关联研究和外显子组测序研究。然而，这些进展受到缺乏足够强大的复制队列来验证这些发现准确性的限制。尽管面临许多挑战，但预计 NEC 的遗传研究将会增加，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，我们总结了 NEC 的遗传研究，并定义了挑战和可能的未来方法。
