The Affiliated Suzhou Hospital of Nanjing Medical University, Suzhou, Jiangsu Province 215000, China; Suzhou Municipal Hospital, Suzhou Jiangsu 215000, China.
Hebei Industrial Technology Research Institute of Genomics in Maternal & Child Health, Clin Lab, BGI Genomics, Shijiazhuang 050035, China; BGI Genomics, Shenzhen 518083, China.
Cell Genom. 2024 Oct 9;4(10):100668. doi: 10.1016/j.xgen.2024.100668.
Genetic factors significantly influence the concentration of metabolites in adults. Nevertheless, the genetic influence on neonatal metabolites remains uncertain. To bridge this gap, we employed genotype imputation techniques on large-scale low-pass genome data obtained from non-invasive prenatal testing. Subsequently, we conducted association studies on a total of 75 metabolic components in neonates. The study identified 19 previously reported associations and 11 novel associations between single-nucleotide polymorphisms and metabolic components. These associations were initially found in the discovery cohort (8,744 participants) and subsequently confirmed in a replication cohort (19,041 participants). The average heritability of metabolic components was estimated to be 76.2%, with a range of 69%-78.8%. These findings offer valuable insights into the genetic architecture of neonatal metabolism.
遗传因素对成年人代谢物浓度有显著影响。然而，遗传对新生儿代谢物的影响尚不确定。为了填补这一空白，我们利用非侵入性产前检测获得的大规模低通基因组数据进行了基因型推断技术。随后，我们对新生儿的总共 75 种代谢成分进行了关联研究。该研究确定了 19 个先前报道的关联和 11 个单核苷酸多态性与代谢成分之间的新关联。这些关联最初在发现队列（8744 名参与者）中发现，并在复制队列（19041 名参与者）中得到了验证。代谢成分的平均遗传力估计为 76.2%，范围为 69%-78.8%。这些发现为新生儿代谢的遗传结构提供了有价值的见解。
