A genetic link between unexplained infertility and diseases such as cancer, heart disease and Parkinson's disease in women has been discovered.
Scientists at the Medical College of Georgia at Augusta University sequenced the exomes of 197 women aged 18 to 40 with unexplained infertility, and identified 17 percent of them had genetic variants that are associated with increased risk of future disease. Approximately 30 percent of all infertility cases are unexplained.
'The connection to diseases has been known, but what has not been known was if there was a genetic connection,' said Professor Lawrence Layman, co-author of the study and chief of reproductive endocrinology, infertility and genetics at Augusta University.
Publishing their results in the New England Journal of Medicine, the researchers found that almost seven percent of the women with unexplained infertility had gene variants associated with conditions where the risk of disease could be removed, or reduced, by lifestyle and/or medical interventions. These conditions include heart disease and cancer.
Using data from the UK Biobank (50,000), and the eMERGE Network (nearly 22,000) as a comparison to the general population, only two percent and 2.5 percent respectively were found to have the gene variants.
The researchers also found that ten percent of the women with unexplained infertility had gene variants associated with conditions where little to no action could be taken to reduce the risk of disease. These conditions include Parkinson's disease, motor neurone disease and polycystic kidney disease.
The authors said their findings alone do not offer sufficient evidence to recommend genetic testing for all people with unexplained infertility. However, if other research studies support these findings, genetic testing may need to be considered more broadly in future.
He also noted that the representation of black women in the study was limited and infertility in men was also not studied, presenting opportunities for future investigation in these populations.
Although the study has identified a link between unexplained infertility and certain diseases, whether these genetic variations affect fertility is not known.
Sources and References
-
Unexplained infertility in women linked to genes that cause cancer and heart disease, study finds
-
Unexplained female infertility associated with genetic disease variants
-
Disproportionate percentage of females with unexplained infertility have gene variants known to cause heart problems, cancer
-
Female infertility linked to genes causing heart problems and cancer
Leave a Reply
You must be logged in to post a comment.