Recent advances in the genetics of preterm birth
Recent advances in the genetics of preterm birth
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DOI：
10.1111/ahg.12373
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发表时间：
2019-12
影响因子：
1.9
通讯作者：
Megan E. Wadon;N. Modi;H. Wong;A. Thapar;M. O’Donovan
中科院分区：
文献类型：
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作者：
Megan E. Wadon;N. Modi;H. Wong;A. Thapar;M. O’Donovan
早产与影响身体、认知和神经精神健康的短期和长期损伤有关。这些后遗症，加上早产率上升和存活率提高，使早产成为一个日益严重的公共卫生问题，因为在整个生命周期中健康受损的人数增加。虽然早产的主要原因来自环境因素，但它也是适度遗传的。对这种遗传贡献的结构知之甚少。对常见和罕见遗传变异的研究力量有限，但最近的发现涉及母体和胎儿基因组的变异。有一些证据表明，母亲的风险等位基因可能与免疫和炎症有关，而在早产儿中，与大脑发育有关的过程可能会增加。早产的总体基因组发现落后于许多其他多因素疾病和特征的进展。关注基因-环境相互作用的研究也可能提供见解，但这些研究仍然存在一些局限性。对早产进行大规模的遗传学研究是未来的优先事项，特别是考虑到其对整个生命周期的负面健康影响的广度以及目前对新生儿基因组测序的兴趣。
Preterm birth is associated with short‐ and long‐term impairments affecting physical, cognitive, and neuropsychiatric health. These sequelae, together with a rising preterm birth rate and increased survival, make prematurity a growing public health issue because of the increased number of individuals with impaired health throughout the life span. Although a major contribution to preterm birth comes from environmental factors, it is also modestly heritable. Little is known about the architecture of this genetic contribution. Studies of common and of rare genetic variation have had limited power, but recent findings implicate variation in both the maternal and fetal genome. There is some evidence risk alleles in mothers may be enriched for processes related to immunity and inflammation, and in the preterm infant, processes related to brain development. Overall genomic discoveries for preterm birth lag behind progress for many other multifactorial diseases and traits. Investigations focusing on gene–environment interactions may also provide insights, but these studies still have a number of limitations. Adequately sized genetic studies of preterm birth are a priority for the future especially given the breadth of its negative health impacts across the life span and the current interest in newborn genome sequencing.