Bray MJ, Davis LK, Torstenson ES, Jones SH, Edwards TL, Velez Edwards DR. Estimating Uterine Fibroid SNP-Based Heritability in European American Women with Imaging-Confirmed Fibroids. Human heredity. 2019 Sep 3. 1-9. PMID: 31480066 [PubMed]
Heritability estimates (including twin and single nucleotide polymorphism [SNP]-based heritability studies) for fibroids have been inconsistent across prior studies ranging between 9 and 69%. These inconsistencies are due to variations in study design and included populations. A major design issue has been lack of imaging confirmation to identify controls, where asymptomatic women without imaging confirmation may be misclassified as controls leading to an attenuation of heritability estimates. To reconcile the differences in prior heritability estimates and the impact of misclassification of controls on heritability, we determined SNP-based heritability and characterized the genetic architecture of pelvic image-confirmed fibroid cases and controls.