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.

中文翻译：

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早产遗传学的最新进展

早产与影响身体、认知和神经精神健康的短期和长期损害有关。这些后遗症，加上早产率的上升和存活率的提高，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不断增加。虽然早产的主要贡献来自环境因素，但它也具有适度的遗传性。人们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，但最近的发现暗示母体和胎儿基因组的变异。有证据表明，母亲体内的等位基因可能因与免疫和炎症相关的过程而富集，而在早产儿中，与大脑发育相关的过程。早产的整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许多局限性。足够规模的早产基因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。