Recently, a research team composed of researchers from BGI, Wuhan Children’s Hospital, Shenzhen Maternal and Child Health Hospital, Sun Yat-sen University, Xiamen University and other institutions has published six research papers in Cell Genomics, a subsidiary of the academic journal Cell.
This study systematically analyzed the genetic basis of gestational diabetes mellitus, maternal and child metabolite indexes, and the important role of genetic factors in maternal and child health, providing a new perspective for pregnancy health management.
Compared with cancer, cardiovascular and cerebrovascular diseases and other research hotspots, there are few genetic studies related to pregnancy, but common prenatal tests such as blood routine, liver function test and kidney function test are related to genes.
Using a new research method developed by ourselves, the research team systematically analyzed the genetic association of various prenatal biochemical indicators and successfully identified 410 phenome-related genes. These genes are closely related to common test indicators in childbirth. Among them, 116 were newly discovered associated genes.
Thirty-one genes were associated with pregnancy-specific populations, such as genes related to blood creatinine. The study found that these 31 genes are mainly distributed in the pathway related to estrogen resistance and immunity, and are highly correlated with the tissues and cells of the immune system and the female reproductive system. This finding provides insights into how genetic factors affect pregnancy phenotypes and maternal health.
The study also used tandem mass spectrometry to detect 84 metabolite indicators during pregnancy and identified 53 genes associated with these indicators, 23 of which were associated genes discovered for the first time. In addition, the genetic effects of the same metabolite in pregnant and non-pregnant young and middle-aged women are significantly different.
This finding reveals that metabolite levels during pregnancy have a unique genetic regulation mechanism. Through Mendelian randomization analysis, the research team found potential causal relationships between these metabolite indicators and 15 diseases of middle and old age. The findings provide a new scientific basis for understanding the genetic basis of metabolites during pregnancy and their effects on maternal and child health.
Metabolite index is an important reflection of healthy growth of newborn. By analyzing 75 newborn metabolites and their proportions, the research team estimated that the average heritability of these metabolites in the newborn population is about 76%, which means that the metabolite levels of newborns are largely influenced by genetic factors.
Relevant studies are helpful to judge and cope with abnormal metabolites and even genetic metabolic diseases in advance, and provide a feasible basis for the study of other phenotypes such as subsequent development of newborns.
Blood sugar level is an important indicator of maternal and child health during pregnancy. The team identified 25 genes associated with blood sugar and for the first time found an association between fasting blood sugar during pregnancy and the estrogen receptor gene ESR1 in an Asian population. Through genetic correlation and Mendelian randomization analysis, the research team further revealed the complex relationship between pregnant women’s blood sugar levels and hormone regulation and hypertension.
Therefore, the research team developed a new gestational diabetes risk prediction algorithm, which provides a new idea for pregnant women’s blood sugar management during pregnancy.The lead author of the paper believes that the above research is expected to promote early screening of pregnancy diseases and personalized health management, and help improve the health of mother and child in China.
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