Genetic variants associated with age of menopause

Genetic variants associated with age of natural menopause in women are reported in a study published online this week in Nature Genetics. The study finds links between genetic variants influencing age at menopause and age at puberty and confirms previous results linking later menopause and breast cancer risk.

Women who experience menopause before the age of 40 are thought to be less likely to develop breast cancer but more likely to develop other complications such as osteoporosis, cardiovascular disease and type 2 diabetes. Genetics has a role in determining the age of natural (non-surgical) menopause, but the full spectrum of genes involved and how they contribute to these other risks is not known.

John Perry and colleagues performed a genome-wide association study with nearly 70,000 women of European ancestry. They identified 56 genetic variants, including 18 that had been previously reported, that were associated with age at natural menopause. These variants were enriched in genes involved in repairing damaged DNA and in genes linked to primary ovarian insufficiency and delayed puberty, suggesting potential molecular links between the onset and end of the female reproductive lifespan. In addition, the study also found evidence that genetic variants leading to later menopause also increase breast cancer risk.