Researchers have discovered new links between miscarriage and maternal genes

November 25, 2020

Researchers at the Estonian Genome Center at the University of Tartu described hitherto undiscovered associations between miscarriage and maternal genes, reveals a recent article published in the Nature Communications.

Miscarriage is the most common complication of pregnancy, affecting about 15% of clinically confirmed pregnancies. Although, the risk of miscarriage increases with maternal age, and has been associated with number of different reasons, up to two-thirds of miscarriages are unrecognized or undiagnosed and causal underlying factors remain largely unknown.

It has been found that miscarriage has a genetic component, with most previous studies focusing on associations of single maternal genetic variants with recurrent miscarriage. Furthermore, the majority of these studies have had small sample sizes and as a consequence identified largely inconsistent results. "Our study involved a large number of women whose gene variants were examined throughout the genome to find risk factors for sporadic or consecutive miscarriages," explained Triin Laisk, the first author of the paper and a Senior Research Fellow at the Estonian Genome Center.

Results show that miscarriage etiopathogenesis is partly driven by genetic variation potentially related to placental biology. Additionally, analysis of health outcomes associated with miscarriage confirms previous observations and identifies several novel ones, such as associations with asthma, depression and irritable bowel syndrome. Authors also noted links between smoking, mental health and general well-being and miscarriage. "Although previous studies have shown that miscarriage increases the risk of depression and cardiovascular diseases, the underlying reasons are unknown. However, genetic research will help us better understand what could be behind such associations," said Laisk.

The study only assessed the effect of maternal genetics on the risk of miscarriage. According to Laisk, further investigation into paternal and fetal genomes should be carried out to better understand the causes of miscarriage. "Although this study of maternal genetic variation shed some light on the causes of miscarriage , further research is definitely needed. In the future, we could know more about the biology behind a successful pregnancy and also about the long-term impact of miscarriage on overall health," added Laisk.

The study formed the basis of an international consortium that will continue to study the genetic causes of miscarriage. Authors analysed genetic information of 420 000 women and data were collected from biobanks around the world, including from the Estonian population-based biobank. "The results of this study illustrate the utility of large-scale biobank data for understanding this pregnancy complication," concluded Laisk.

Estonian Research Council

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