A large study including 25,000 pregnant Han Chinese women reveals previously undiscovered genetic variants linked to maternal health and newborn disorders.
As reported in the journal Cell Genomics, the authors carried out a phenome-wide association study on 25,639 pregnant women and 14,151 of their newborns using blood tests taken during pregnancy and electronic health record data.
Ultra-low-coverage whole genome sequence was analyzed to search for links with phenotypes commonly seen in mothers such as gestational diabetes, obesity, asthma, psoriasis, endometriosis, and hypothyroidism. They also looked at diseases seen in infants such as childhood gastroenteritis, colitis, tonsillitis, sinusitis, and dermatitis.
“The recent establishment of extra-large biospecimens collections, such as the UK Biobank and Global Biobank Meta-analysis Initiative, can enable the genetic association studies of various diseases with statistical power,” write Qiyuan Li, PhD, and Yulin Zhou of Xiamen University and co-authors.
“In particular, mining electronic health records with ‘‘big data’’ analyses greatly expands the spectrum of phenotypes and enhances the capacity to uncover associations between diseases and genetic variations, advancing our understanding of the genetic background of diseases.”
However, cost can prohibit large scale sequencing of large biobanks, but ultra-low-coverage sequencing can help overcome this problem.
In this study, the team discovered 2,883 maternal trait-associated single-nucleotide polymorphisms (SNPs) associated with 26 phenotypes, which they further narrowed down to 442 variants linked to disease traits after correcting for various possible confounding factors.
Notably, 21 maternal traits were linked to increased risk for 35 diseases seen in newborns. Two of these traits, dermatitis and acute sinusitis, were the same in mothers and infants. However, for the remaining 33, traits linked to specific conditions in mothers were linked to different conditions in infants. For example, hypothyroidism in mothers was associated with increased risk of gastroenteritis, colitis, and tonsillitis in infants.
“Maternal and newborn health are intricately connected, and our study has provided important insights into the genetic basis of many maternal-neonatal comorbidities. Firstly, the discovery of these genetic associations can inform future better prevention strategies for pregnant women and children,” concluded the authors. “Furthermore, the risk loci reported also help to better understanding the genetic risk in this population and improve clinical genetic counseling programs in obstetrics and pediatrics.”
Many of the large genomic databases that have emerged over the last few years, such as the UK Biobank, largely have White participants of European origin. Studies like this one can help provide valuable genetic data on other communities that could be helpful for detecting, treating, and preventing disease in the future.
