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Member Research and Reports

Member Research and Reports

UNC Researchers Conduct Most Diverse Genetic Study of Female Reproductive Milestones to Date

A new study is the first to examine multiple genes that influence the age at which a woman starts her period (menarche) and experiences menopause among a large sample of United States women of diverse ancestries. Several minority groups of women in the U.S., particularly African-American and Hispanic/Latina women, experience these milestones on average earlier than white women do – a fact that places female members of these racial and ethnic groups at greater risk for certain cardiovascular diseases and cancers.

“Although these population-level differences are likely due in large part to greater exposure to non-genetic risk factors like obesity or smoking, we know very little to date about the underlying genes involved in early menarche and menopause among U.S. minority women,” said Dr. Lindsay Fernández-Rhodes, the corresponding author of the study. “Therefore, we have to do a better job of identifying which genes are involved in order to understand how they interact with obesity, smoking and other public health priorities.”

Dr. Fernández-Rhodes is a postdoctoral research associate in the University of North Carolina Gillings School of Global Public Health’s department of epidemiology and a postdoctoral scholar with UNC’s Carolina Population Center. She also is a three-time alumna of UNC-Chapel Hill and a former Johnston Scholar. In August, she will begin a new role as assistant professor of biobehavioral health in the College of Health and Human Development at Pennsylvania State University.

The study that she led, “The genetic underpinnings of variation in ages at menarche and natural menopause among women from the multi-ethnic Population Architecture using Genomics and Epidemiology (PAGE) Study: A trans-ethnic meta-analysis,” was published online July 25 by the journal PLOS ONE.

Using data from the Population Architecture using Genomics and Epidemiology (PAGE) Study, Dr. Fernández-Rhodes and her co-authors conducted cross-sectional analyses of genetic regions on the chromosome that previously have been linked with age at menarche (AAM) and age at natural menopause (ANM) among 45,364 women of African, Hispanic/Latina, East Asian and Native American ancestry.

The researchers confirmed earlier findings that some genetic regions linked with reproductive traits previously described in populations of European descent only also are associated with AAM and ANM in other ancestral populations (e.g. African-American, Hispanic/Latina and East Asian), but they also expanded the list of populations affected by these genetic regions to include Native Hawaiian women and American Indian/Alaskan Native women. Additionally, they identified multiple novel genetic regions that are linked with these female reproductive milestones and are found more commonly in women of non-European descent.

The fact that the researchers collected data on many genetic variants and many different U.S. minority groups with ancestry from places other than Europe is what enabled them to identify these novel findings and narrow in on what might be the functional genetic variants responsible for why certain women experience reproductive milestones early. These findings, the co-authors conclude, point to the benefit of including diverse populations in all studies on the genetics of female growth and development.

“The broader context here is that ancestral diversity has been lacking in most genetic studies to date,” Dr. Fernández-Rhodes explained. “Studies like PAGE and others are working hard to eliminate the gap between who is researched and which populations have the greatest public health need. In this case, minority women tend to experience these key reproductive milestones earlier and could benefit the most from either public health or precision medicine efforts to address disparities in when the milestones occur and the downstream consequences, such as cardiovascular disease and cancer.”

[Photo: Dr. Lindsay Fernández-Rhodes (left).]

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