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Scientists identify four genetic variants linked to risk of early menopause

18 October 2010

Research out today suggests that four common genetic variants may have a significant impact on the odds of having early menopause.

The findings, published today in 'Human Molecular Genetics', could have considerable impact on women in the UK and other western countries, where many start having children at a later age. The researchers say they are the first steps towards developing a genetic test to predict a woman's reproductive lifespan. Early menopause is thought to affect as many as one in 20 women in the UK.

In a study funded by the Wellcome Trust, scientists at the University of Exeter Peninsula Medical School and the Institute of Cancer Research (ICR) examined four genetic variants, on chromosomes 19, 20, 6 and 5, which had previously been associated with the menopause.

The researchers compared DNA samples from 2000 women from the Breakthrough Generations Study who had experienced early menopause with a matched group of the same number of participants. They found that the four genes each individually affected risk of early menopause and in combination had a larger impact.

The Breakthrough Generations Study is a large and comprehensive study into the causes of breast cancer, and is a partnership between Breakthrough Breast Cancer and the ICR. The study will follow the 100 000 UK women participants for the next 40 years to unravel the lifestyle, environmental and genetic factors that cause the disease.

Although early menopause is associated with a decreased risk of breast cancer, women who experience early menopause are susceptible to other health problems including osteoporosis, cardiovascular disease and a reduction in fertility.

As more variants are discovered, the researchers believe this may enable the development of an easy and relatively inexpensive genetic test to help women determine whether they have a genetic predisposition to early menopause, and therefore predict the time of the end of their reproductive life. They could then make informed family planning decisions on the basis of this knowledge.

Lead scientist Dr Anna Murray, from the University of Exeter Peninsula Medical School, says: "It is estimated that a woman's ability to conceive decreases on average ten years before she starts the menopause. Therefore, those who are destined to have an early menopause and delay childbearing until their thirties are more likely to have problems conceiving."

Image credit: John Carleton on Flickr

Reference

Murray A et al. Common genetic variants are significant risk factors for early menopause: results from the breakthrough generations study. Human Molecular Genetics; 18 Oct 2010.

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