Around 17% of women with unexplained infertility also have gene variants known to cause diseases including cancer, a new study has found.

The connection between infertility and some illnesses had already been established; both men and women with infertility have increased risks of heart disease and cancer.

What had not been established before was whether genetic disease creates a predisposition to infertility – until now.

“Our findings support a genetic link between infertility and future medical illness,” the study, published in the New England Journal of Medicine, said.

“Future medical illness” in this case refers to diseases that arise as a result of variants in genes.

The researchers from the Medical College of Georgia in the US found 6.6% of the females they studied had variants in 59 genes termed “medically actionable”.

This means they were likely to cause illnesses such as cancer or heart disease, where there were some lifestyle or medical interventions that might reduce their risk.

In comparison, between 2% and 2.5% of the general population have variants in these genes.

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A further 10% of the infertile women they studied had gene variants known to cause diseases such as Parkinson’s, for which little to no action could be taken to reduce risk of it developing.

The researchers sequenced the genes of 197 women aged 18 to 40 with unexplained infertility to look for gene variants that were known or suspected to cause disease.

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The study notes that infertility affects 10 to 15% of people in the US. In the UK, it is estimated that 15% of heterosexual couples are affected by infertility.

In about 30% of cases, the cause of infertility is unexplained.

The two most commonly found gene variants in the study were ones that cause heart disease and cancer.

The researchers said they did not recommend genetic testing for women with unexplained infertility at this point, but that it may need to be considered in future if further research supports these findings.

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