2021年7月19日，冰岛大学Kari Stefansson和冰岛解码遗传学公司/安进公司（美国）Valgerdur Steinthorsdottir团队合作在《自然-遗传学》杂志发表论文，宣布他们揭示了亲代和胎儿基因组区别对胎儿生长的影响。

研究人员在基因组水平对儿童和父母的出生体重进行了全基因组关联研究，并进一步分析了出生时的身高和体重指数，共获得了243个胎儿的生长变化数据。 根据遗传和非遗传等位基因对出生体重的影响，研究人员对这些变化系数进行了聚类。 在141个聚类变体中，22 个与亲本来源特异性效应一致。研究人员进一步使用单倍体特定的多基因风险评分来直接测试成人特征与胎儿出生体重之间的关系。

该研究结果表明，母体基因组通过升高调控血糖的等位基因增加胎儿的出生体重，而胎儿基因组升高血压等位基因的表达则导致胎儿出生体重减轻。

据介绍，出生体重是衡量胎儿生长的常用指标，与一系列健康结果相关。它受胎儿基因组的直接影响，并间接受母体基因组的影响。

附：英文原文

Title: Distinction between the effects of parental and fetal genomes on fetal growth

Author: Thorhildur Juliusdottir, Valgerdur Steinthorsdottir, Lilja Stefansdottir, Gardar Sveinbjornsson, Erna V. Ivarsdottir, Rosa B. Thorolfsdottir, Jon K. Sigurdsson, Vinicius Tragante, Kristjan E. Hjorleifsson, Anna Helgadottir, Michael L. Frigge, Gudmundur Thorgeirsson, Rafn Benediktsson, Emil L. Sigurdsson, David O. Arnar, Thora Steingrimsdottir, Ingileif Jonsdottir, Hilma Holm, Daniel F. Gudbjartsson, Gudmar Thorleifsson, Unnur Thorsteinsdottir, Kari Stefansson

Issue&Volume: 2021-07-19

Abstract: Birth weight is a common measure of fetal growth that is associated with a range of health outcomes. It is directly affected by the fetal genome and indirectly by the maternal genome. We performed genome-wide association studies on birth weight in the genomes of the child and parents and further analyzed birth length and ponderal index, yielding a total of 243 fetal growth variants. We clustered those variants based on the effects of transmitted and nontransmitted alleles on birth weight. Out of 141 clustered variants, 22 were consistent with parent-of-origin-specific effects. We further used haplotype-specific polygenic risk scores to directly test the relationship between adult traits and birth weight. Our results indicate that the maternal genome contributes to increased birth weight through blood-glucose-raising alleles while blood-pressure-raising alleles reduce birth weight largely through the fetal genome. Genome-wide association analyses using parental and offspring genotypes provide insights into fetal and maternal genetic effects on fetal growth. The results show that maternal and fetal genomes influence birth weight through distinct mechanisms.

DOI: 10.1038/s41588-021-00896-x

Source: https://www.nature.com/articles/s41588-021-00896-x