Researchers at a major medical institution examined the DNA of 197 women aged 18 to 40 who were unable to conceive without an identifiable cause. The study found that about 17% of these women carry gene variants that raise the risk of cancer or heart disease. Among the group, 6.6% had variants in genes tied to cardiovascular issues and breast cancer. It is important to note that the overall risk associated with these variants can be mitigated through lifestyle adjustments or medical interventions. In the general population, around 2.5% carry such genetic variants, which means women facing unexplained infertility appear to have roughly three times the likelihood of harboring dangerous variants compared with the broader population.
An additional 10% of the participants carried disease-associated gene variants that are unlikely to be actionable in terms of reducing risk. These include variants linked to conditions such as Parkinson’s disease or amyotrophic lateral sclerosis. The most frequently observed mutations among the cohort are those connected to cardiovascular disease and cancer.
The researchers highlight that while correlations between unexplained female infertility and other health conditions are recognized, proving a direct genetic link remains unresolved. The findings underscore the potential value of comprehensive genetic screening for women experiencing infertility, with careful consideration of how results could influence prevention and early detection strategies for related health risks.