RNSystematic ReviewNursing research2019

Genomics of Reproductive Traits and Cardiometabolic Disease Risk in African American Women.

Theresa M Hardy, Veronica Barcelona, Yan V Sun and 1 others

PMID 30570522

WHAT IT FOUND

Genetic variants found in European-ancestry studies mostly did not carry over to African American women.

Some menarche and menopause variants replicated, and gene overlaps with cardiometabolic traits were reported, but this is not clinical guidance.

Key findings

01Genetic variants previously identified in European-ancestry women did not generalize to African American women.

02Some variants for age at menarche and age at natural menopause replicated in African American women.

03Novel variants were identified through meta-analysis, including associations with ovarian reserve biomarkers in two studies.

STILL TO COME

How it was doneWhat they foundWhat it means for RNs

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What it does not show

The review included only seven studies, and the authors note there were few genome-wide association studies of reproductive traits in African American women. Genetic variants found in European-ancestry women did not generalize to African American women, so ancestry transferability is a major problem. Age at menarche and age at menopause were often self-reported, which can be affected by recall bias. Several studies combined cohorts with different data collection methods, which may have made replication and novel signal detection harder. Many cardiometabolic genetic studies did not analyze men and women separately, which may have limited detection of shared genes. The reproductive trait variants were not close proxies for cardiometabolic variants, so the genetic overlap is not yet clinically actionable. Race was partly self-reported or assigned as a social category, and ancestry informative markers were used only in the included studies.

Declared interests

The supplied text does not include an author conflicts of interest statement. The publication types note NIH extramural research support.

The easy way to misread this

Do not read the reported gene overlaps as evidence that genetic testing can guide patient care. The review describes genetic associations, not tested screening or treatment, and the authors call for more research to narrow genomic regions and clarify pathways.

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