Rare genotype identified causing early menopause
A recent GWAS meta-analysis identified a rare genetic variant in the CCDC201 gene that causes women to experience menopause 9 years earlier, significantly impacting their reproductive health and fertility.
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Researchers have found that the age at which women reach menopause significantly affects their fertility and risk of certain diseases. While many genetic factors influencing menopause age have been studied, this research focused on a specific genetic variant that is less common. By analyzing data from over 174,000 women in Iceland, Denmark, the UK, and Norway, scientists discovered that women with a rare genetic variant in the CCDC201 gene experience menopause 9 years earlier than others. This variant is found in about 1 in 10,000 women of Northern European descent and often leads to early menopause and fewer children. The CCDC201 gene, identified in humans only recently, plays a crucial role in female reproductive health. Women with this genetic variant may benefit from early reproductive counseling and treatment for symptoms of early menopause.
Original paper:
Homozygosity for a stop-gain variant in CCDC201 causes primary ovarian insufficiency