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.

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。它直接受胎儿基因组影响，间接受母体基因组影响。我们对孩子和父母基因组中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身长和体重指数，总共产生了 243 个胎儿生长变异。我们根据传播和非传播等位基因对出生体重的影响对这些变体进行聚类。在 141 个聚类变体中，22 个与特定来源的亲本效应一致。我们进一步使用单倍型特异性多基因风险评分来直接测试成人性状与出生体重之间的关系。