Department of Genetics, Cell Biology, and Development, University of Minnesota, Minneapolis, MN, USA.
Division of Neonatology, Department of Pediatrics, University of Minnesota Medical School, Minneapolis, MN, USA.
Cell Genom. 2024 Oct 9;4(10):100638. doi: 10.1016/j.xgen.2024.100638. Epub 2024 Sep 11.
Human milk is a complex mix of nutritional and bioactive components that provide complete nourishment for the infant. However, we lack a systematic knowledge of the factors shaping milk composition and how milk variation influences infant health. Here, we characterize relationships between maternal genetics, milk gene expression, milk composition, and the infant fecal microbiome in up to 310 exclusively breastfeeding mother-infant pairs. We identified 482 genetic loci associated with milk gene expression unique to the lactating mammary gland and link these loci to breast cancer risk and human milk oligosaccharide concentration. Integrative analyses uncovered connections between milk gene expression and infant gut microbiome, including an association between the expression of inflammation-related genes with milk interleukin-6 (IL-6) concentration and the abundance of Bifidobacterium and Escherichia in the infant gut. Our results show how an improved understanding of the genetics and genomics of human milk connects lactation biology with maternal and infant health.
人乳是营养和生物活性成分的复杂混合物，可为婴儿提供全面的营养。然而，我们缺乏对塑造乳汁成分的因素以及乳汁变化如何影响婴儿健康的系统认识。在这里，我们对多达 310 对纯母乳喂养的母婴对的母亲遗传学、乳汁基因表达、乳汁成分和婴儿粪便微生物组之间的关系进行了描述。我们鉴定了 482 个与泌乳乳腺特有的乳汁基因表达相关的遗传位点，并将这些位点与乳腺癌风险和人乳低聚糖浓度联系起来。综合分析揭示了乳汁基因表达与婴儿肠道微生物组之间的联系，包括与炎症相关基因的表达与乳汁白细胞介素 6（IL-6）浓度以及婴儿肠道中双歧杆菌和大肠杆菌丰度之间的关联。我们的研究结果表明，对人乳遗传学和基因组学的深入了解如何将哺乳生物学与母婴健康联系起来。
