Release date: 2017-09-11
In China, about 5% to 15% of pregnant women will have a "premature birth" phenomenon, that is, in the delivery of infants less than 37 weeks of pregnancy, about 15% of premature births die in the neonatal period. Medically agreed that preterm birth is a combination of genetic and environmental factors. Previous studies have shown that genetics account for 30% to 40%.
On September 7, a US study published in the New England Journal of Medicine (NEJM) identified six genes associated with pregnancy and/or preterm birth risk, which will help clinicians identify preterm risk. Women and develop appropriate prevention strategies.
The study's lead, Louis Muglia, MD, of the Premature Birth Research Center at the Cincinnati Children's Hospital Medical Center, said the study used a genome-wide association study (GWAS) analysis and was the first large-scale clinical research project to link genes associated with "preterm birth" risk. .
From a bioanalytical perspective, the larger the data set, the stronger the link between specific genetic variants and phenotypes. The largest GWAS study surveyed about 1,000 premature women, and the study included a cohort of four subsets with a total of more than 50,000 women.
In this study, the scientists asked 43,568 women to provide their pregnancy history, saliva samples, and genetic test results from 23andMe, and compared data from 8643 mothers and 4,090 infants from 3 Nordic studies. Several SNP sites. The researchers compared their results to the GWAS catalog and the GTEx20 database and found that these loci stored information about gene expression patterns.
According to the researchers, among the 43,568 women who underwent genetic testing, 37,803 were delivered at 37-42 weeks, accounting for 86.8%, and 3331 were premature (<37 weeks), accounting for 7.6%, and 2,434 were expired. Production (> 42 weeks), accounting for 5.6%.
Figure 1: Results of the Discovery-Stage Genomewide Association Study
The first author of the article, Dr. Ge Zhang, and colleagues evaluated 15,635,593 SNPs to find biological mechanisms associated with pregnancy and preterm birth genes. It was found that three genes (EBF1, EEFSEC, AGTR2) were associated with preterm birth, and three genes (WNT4, ADCY5 and RAP2C) were associated with pregnancy. The impact of these six genes on heritability during pregnancy was 17%, and the heritability of preterm birth was 23%.
Figure 2: ESR1 Binding at the WNT4 Locus.
GWAS revealed the overall impact of these six genes on pregnancy and preterm birth risk:
1) ADCY5 (type 5 adenylate cyclase) is related to birth weight;
2) The oncogene RAP2C is associated with preterm birth;
3) Wnt4 gene is associated with endometrial decidualization; its SNP changes will be associated with ESR1 (estrogen receptor 1), leading to primary amenorrhea (see Figure 2);
4) EBF1 (early B lymphocyte factor 1) is associated with blood pressure and carotid intima-media thickness connection;
5) AGTR2 (angiotensin II receptor type 2) controls the circulation between the placenta and the uterus;
6) EEFSEC (specific eukaryotic elongation factor of selenocysteine ​​tRNA) is associated with proteins with antioxidant and anti-inflammatory effects, both of which can affect birth time.
Source: Bio-Exploration
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