Researchers at the Medical College of Georgia at Augusta University have discovered a prevalence of disease-causing gene variants in women with unexplained infertility using exome sequencing.
In a study published in The New England Journal of Medicine, the researchers sequenced the exomes, which are DNA regions containing the protein-coding regions of genes, of nearly 200 females aged 18 to 40 with unexplained infertility in order to scan for disease-causing gene variants.
“The connection to diseases has been known, but what has not been known was if there was a genetic connection. That was the purpose of this study,” said Lawrence Layman, MD, professor at the medical college of Georgia and lead author of the study, in a press statement.
The researchers found that nearly seven per cent of the women studied had variants in 59 genes termed “medically actionable”, meaning that they are likely to cause medical conditions such as heart disease and breast cancer but with a possibility of risk reduction with the help of medical interventions or lifestyle changes.
In comparison, only about three percent of the general population have been found to have variants in these genes. According to the researchers, the most common medically actionable gene variants linked to unexplained infertility in the study were those contributing to cardiovascular disease and cancer.
The scientists also compared their findings to larger datasets that better represent the entire population such as 50.000 people in the UK Biobank and nearly 22.000 in the National Human Genome Research Institute-funded eMERGE network, yielding two and nearly three percent respectively.
According to the researchers this translates to a nearly threefold increase in disease-causing gene variants in women with unexplained infertility compared to the general population. The team also found an increased link to genes that are not medically actionable, such as ALS or Lou Gehrig’s disease.
“We don’t do genetic testing right now because there hasn’t been good evidence for it and it’s not going to be covered by insurance. We need to study a lot more people and other people need to do that too,” Layman said.
The scientists believe that their findings will inspire others to explore whether the disease-causing gene variants found in the females in the study are also factors in their infertility. Additionally, the team wants to conduct larger studies involving men as well as women, due to infertility affecting both genders equally.