Menstrual, Menopause Study Sheds Light On Disease Prevention

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2009-05-18 13:22

Newly identified gene variants associated with the age at which females experience their first menstrual period and the onset of menopause may help shed light on the prevention of breast and endometrial cancer, osteoporosis, and cardiovascular disease.

In a new study, researchers from Harvard School of Public Health (HSPH), Brigham and Women's Hospital (BWH), National Cancer Institute (NCI), and the Broad Institute of Harvard and MIT report that they have identified 10 genetic variants in two chromosomal regions associated with age at menarche (the first menstrual period), and 13 genetic variants in four chromosomal regions associated with age at natural menopause. The paper, "Genome-wide association studies identify loci associated with age at menarche and at natural menopause," will publish online in Nature Genetics on May 17, 2009.

Menarche and natural menopause are two important physiological events in a woman's life. An early onset of menarche and later menopause are well-established risk factors for the development of breast cancer and endometrial cancer, the researchers explain. On the other hand, early menopause increases risk of osteoporosis and cardiovascular disease.

Previous studies have suggested both menarche and menopause may be partially under genetic control. To identify common genetic variants influencing these states, the researchers analyzed more than 317,000 gene variants in a total of 17,438 women from the Nurses' Health Study (NHS) and the Women's Genome Health Study (WGHS) based at BWH.

"At these newly identified loci, fine mapping or sequencing might lead to identification of the causal variants, and thus expand our knowledge of the underlying physiology and biological regulation of these traits," said lead author Chunyan He, an assistant professor at Indiana University School of Medicine who was a doctoral student in the HSPH Department of Epidemiology while conducting the research. "Insights into the genetic factors influencing the timing of menarche and natural menopause might shed light on normal reproductive function and the prevention of the diseases associated with these two traits."

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