Admixture mapping of uterine fibroid size and number in African American women

Fertil Steril. 2017 Dec;108(6):1034-1042.e26. doi: 10.1016/j.fertnstert.2017.09.018.


Objective: To evaluate the relationship between genetic ancestry and uterine fibroid characteristics.

Design: Cross-sectional study.

Setting: Not applicable.

Patient(s): A total of 609 African American participants with image- or surgery-confirmed fibroids in a biorepository at Vanderbilt University electronic health record biorepository and the Coronary Artery Risk Development in Young Adults studies were included.

Intervention(s): None.

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

Result(s): Global ancestry meta-analyses revealed a significant inverse association between percentage of European ancestry and risk of multiple fibroids (odds ratio: 0.78; 95% confidence interval 0.66, 0.93; P=6.05 × 10-3). Local ancestry meta-analyses revealed five suggestive (P<4.80 × 10-3) admixture mapping peaks in 2q14.3-2q21.1, 3p14.2-3p14.1, 7q32.2-7q33, 10q21.1, 14q24.2-14q24.3, for number of fibroids and one suggestive admixture mapping peak (P<1.97 × 10-3) in 10q24.1-10q24.32 for volume of largest fibroid. Single variant association meta-analyses of the strongest associated region from admixture mapping of fibroid number (10q21.1) revealed a strong association at single nucleotide polymorphism variant rs12219990 (odds ratio: 0.41; 95% confidence interval 0.28, 0.60; P=3.82 × 10-6) that was significant after correction for multiple testing.

Conclusion(s): Increasing African ancestry is associated with multiple fibroids but not with fibroid size. Local ancestry analyses identified several novel genomic regions not previously associated with fibroid number and increasing volume. Future studies are needed to explore the genetic impact that ancestry plays into the development of fibroid characteristics.

Keywords: Fibroids; admixture mapping; global ancestry; leiomyomata; local ancestry.

Publication types

  • Meta-Analysis
  • Multicenter Study
  • Research Support, N.I.H., Intramural
  • Research Support, N.I.H., Extramural

MeSH terms

  • Adult
  • Biological Specimen Banks
  • Biomarkers, Tumor / genetics*
  • Black or African American / genetics*
  • Cross-Sectional Studies
  • Databases, Factual
  • Electronic Health Records
  • Female
  • Genetic Predisposition to Disease
  • Genome-Wide Association Study
  • Heredity
  • Humans
  • Leiomyoma / ethnology
  • Leiomyoma / genetics*
  • Leiomyoma / pathology*
  • Leiomyomatosis / ethnology
  • Leiomyomatosis / genetics*
  • Leiomyomatosis / pathology*
  • Linear Models
  • Logistic Models
  • Middle Aged
  • Odds Ratio
  • Phenotype
  • Polymorphism, Single Nucleotide
  • Risk Factors
  • Tumor Burden / genetics*
  • United States / epidemiology
  • Uterine Neoplasms / ethnology
  • Uterine Neoplasms / genetics*
  • Uterine Neoplasms / pathology*


  • Biomarkers, Tumor