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两百万成员队列中孕周的遗传度:对自发性早产的影响

The heritability of gestational age in a two-million member cohort: implications for spontaneous preterm birth.

作者信息

Wu Wilfred, Witherspoon David J, Fraser Alison, Clark Erin A S, Rogers Alan, Stoddard Gregory J, Manuck Tracy A, Chen Karin, Esplin M Sean, Smith Ken R, Varner Michael W, Jorde Lynn B

机构信息

Department of Human Genetics, University of Utah School of Medicine, Salt Lake City, UT, 84112, USA.

出版信息

Hum Genet. 2015 Jul;134(7):803-8. doi: 10.1007/s00439-015-1558-1. Epub 2015 Apr 29.

DOI:10.1007/s00439-015-1558-1
PMID:25920518
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4678031/
Abstract

Preterm birth (PTB), defined as birth prior to a gestational age (GA) of 37 completed weeks, affects more than 10% of births worldwide. PTB is the leading cause of neonatal mortality and is associated with a broad spectrum of lifelong morbidity in survivors. The etiology of spontaneous PTB (SPTB) is complex and has an important genetic component. Previous studies have compared monozygotic and dizygotic twin mothers and their families to estimate the heritability of SPTB, but these approaches cannot separate the relative contributions of the maternal and the fetal genomes to GA or SPTB. Using the Utah Population Database, we assessed the heritability of GA in more than 2 million post-1945 Utah births, the largest familial GA dataset ever assembled. We estimated a narrow-sense heritability of 13.3% for GA and a broad-sense heritability of 24.5%. A maternal effect (which includes the effect of the maternal genome) accounts for 15.2% of the variance of GA, and the remaining 60.3% is contributed by individual environmental effects. Given the relatively low heritability of GA and SPTB in the general population, multiplex SPTB pedigrees are likely to provide more power for gene detection than will samples of unrelated individuals. Furthermore, nongenetic factors provide important targets for therapeutic intervention.

摘要

早产(PTB)定义为妊娠满37周前出生,全球超过10%的分娩受其影响。早产是新生儿死亡的主要原因,且与幸存者一系列广泛的终身发病相关。自发性早产(SPTB)的病因复杂,具有重要的遗传成分。以往研究比较了单卵和双卵双胞胎母亲及其家庭,以估计SPTB的遗传度,但这些方法无法区分母体和胎儿基因组对孕周或SPTB的相对贡献。利用犹他州人口数据库,我们评估了1945年后犹他州200多万例出生的孕周遗传度,这是有史以来收集的最大的家族性孕周数据集。我们估计孕周的狭义遗传度为13.3%,广义遗传度为24.5%。母体效应(包括母体基因组的效应)占孕周方差的15.2%,其余60.3%由个体环境效应贡献。鉴于一般人群中孕周和SPTB的遗传度相对较低,与无关个体样本相比,多重SPTB家系可能为基因检测提供更大的效力。此外,非遗传因素为治疗干预提供了重要靶点。

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