Scientists at deCODE genetics and collaborators, have identified a sequence variant in the CCDC201 gene that when inherited from both parents homozygous causes menopause on average nine years earlier. deCODE genetics, a subsidiary of Amgen, and collaborators from Iceland, Denmark, the UK, and Norway published a study in Nature Genetics today revealing a rare genotype with a significant impact on women's health. Age at menopause significantly affects fertility and disease risk.
This research focused on recessive models, or on individuals with two copies of a sequence variant called homozygotes, which are less commonly studied then the additive model, which mainly relies on individuals carrying one copy of a sequence variant, especially when this one is rare. By analyzing data from over 174,000 women across Iceland, Denmark, the UK, and Norway, the researchers discovered a stop gain variant leading to a change from and Arginine at position 162 to Termination in the CCDC201 gene, that dramatically impacts AOM. The CCDC201 gene, only identified in humans as a protein coding gene in 2022 and has since then been shown to be highly expressed in egg cells, and this study demonstrates that its complete loss-of-function significantly impacts female reproductive health.
Women carrying two copies of this variant, referred to as homozygotes, experience menopause an average of nine years earlier than non-carriers.. This homozygous genotype is found in roughly 1 in 10,000 women of Northern .