Transethnic and race-stratified genome-wide association study of fibroid characteristics in African American and European American women

Fertil Steril. 2018 Sep;110(4):737-745.e34. doi: 10.1016/j.fertnstert.2018.04.035.


Objective: To identify, through genome-wide association studies, genetic loci that associate with differences in fibroid size and number in a population of African American and European American women.

Design: Cross-sectional study.

Setting: Not applicable.

Patient(s): Using BioVU, a clinical population from the Vanderbilt University Medical Center, and the Coronary Artery Risk Development in Young Adults cohort, a prospective cohort, we identified 1520 women (609 African American and 911 European American) with documented fibroid characteristics.

Intervention(s): None.

Main outcome measure(s): Outcome measurements include volume of largest fibroid, largest fibroid dimension, and number of fibroids (single vs. multiple).

Result(s): In race-stratified analyses we achieved genome-wide significance at a variant located between MAT2B and TENM2 (rs57542984, β = 0.13; 95% confidence interval 0.09, 0.17) for analyses of largest fibroid dimension in African Americans. The strongest signal for transethnic analyses was at a variant on 1q31.1 located between PLA2G4A and BRINP3 (rs6605005, β = 0.24; 95% confidence interval 0.15, 0.33) for fibroid volume. Results from MetaXcan identified an association between predicted expression of the gene ER degradation enhancing alpha-mannosidase like protein 2 (EDEM2) in the thyroid and number of fibroids (Z score = -4.51).

Conclusion(s): This study identified many novel associations between genetic loci and fibroid size and number in both race-stratified and transethnic analyses. Future studies are necessary to further validate our study findings and to better understand the mechanisms underlying these associations.

Keywords: Fibroids; genome-wide association study; leiomyomata; transethnic meta-analysis.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, N.I.H., Intramural

MeSH terms

  • Adolescent
  • Adult
  • Black or African American / genetics*
  • Cohort Studies
  • Coronary Artery Disease / diagnosis
  • Coronary Artery Disease / epidemiology
  • Coronary Artery Disease / genetics
  • Cross-Sectional Studies
  • Female
  • Genome-Wide Association Study / methods*
  • Humans
  • Leiomyoma / diagnosis
  • Leiomyoma / epidemiology*
  • Leiomyoma / genetics*
  • Middle Aged
  • Prospective Studies
  • White People / genetics*
  • Young Adult