Recently, BGI Life Sciences Research Institute, BGI, Wuhan Children's Hospital, Shenzhen Maternal and Child Health Care Institute, Sun Yat sen University, Xiamen University and other institutions formed a research team and published six research papers on the academic journal Cell Genomics, which systematically analyzed the biochemical phenotype group during pregnancy, maternal and child metabolite indicators and the genetic basis of diabetes during pregnancy, revealed the important role of genetic factors in maternal and infant health, and provided a new perspective for health management during pregnancy. Compared to research hotspots such as cancer and cardiovascular diseases, there are relatively few genetic studies related to pregnancy. However, common prenatal tests such as blood routine, liver function tests, and kidney function tests are all related to genes. The research team used a newly developed research method to systematically conduct genetic association analysis on various prenatal biochemical indicators during pregnancy, successfully identifying 410 phenotype related genes. These genes are closely related to common test indicators in prenatal examinations. Among them, 116 are newly discovered associated genes; 31 genes are unique to the pregnant population, such as genes related to blood creatinine. The study found that these 31 genes are mainly distributed in estrogen resistance and immune related pathways, and are highly correlated with the tissues and cells of the immune system and female reproductive system. This discovery provides assistance in understanding how genetic factors affect pregnancy phenotype and maternal health. The study also used tandem mass spectrometry technology to detect 84 metabolic indicators during pregnancy, and identified 53 genes associated with these indicators, of which 23 were newly discovered associated genes. In addition, there are significant differences in the genetic effects of the same metabolite between pregnant and non pregnant middle-aged and young women. This discovery reveals that the levels of metabolites during pregnancy have unique genetic regulatory mechanisms. Through Mendelian randomization analysis, the research team found potential causal relationships between these metabolite indicators and 15 middle-aged and elderly diseases. This discovery provides new scientific basis for understanding the genetic basis of metabolites during pregnancy and their impact on maternal and infant health. Metabolite indicators are an important reflection of the healthy growth of newborns. The research team estimated that the average heritability of 75 newborn metabolites and their proportions in the newborn population is about 76%, which means that the metabolite levels in newborns are largely influenced by genetic factors. Related research helps to make early judgments and responses to abnormal metabolites and even genetic metabolic diseases, providing feasible basis for the study of other phenotypes such as neonatal development. Blood glucose level is an important indicator for measuring maternal and infant health during pregnancy. The research team discovered 25 genes related to blood glucose and for the first time found an association between fasting blood glucose during pregnancy and the estrogen receptor gene ESR1 in Asian populations. Through genetic correlation and Mendelian randomization analysis, the research team further revealed the complex relationship between maternal blood glucose levels, hormone regulation, and hypertension. Accordingly, the research team developed a new risk prediction algorithm for gestational diabetes, which provides a new idea for pregnant women's blood glucose management during pregnancy. The main author of the paper believes that the above research is expected to promote early screening and personalized health management of pregnancy related diseases, and help improve the health level of mother and baby in China. (New Society)