Significant interpopulation differentiation at candidate loci may underlie ethnic disparities in the prevalence of uterine fibroids

• Published in: Journal of genetics 2021-10, Vol.100 (2), Article 90
• Main Author: Dvornyk, Volodymyr
• Format: Article
• Language: English
• Subjects: Animal Genetics and Genomics; Biomedical and Life Sciences; Cohort Studies; Cultural differences; Evolutionary Biology; Female; Fibroids; Gene Frequency; Genetic structure; Genome-Wide Association Study; Genomes; Humans; Leiomyoma - epidemiology; Leiomyoma - ethnology; Leiomyoma - genetics; Life Sciences; Metagenomics; Microbial Genetics and Genomics; Plant Genetics and Genomics; Polymorphism, Single Nucleotide; Population; Population differentiation; Population genetics; Population structure; Population studies; Prevalence; Research Article; Single nucleotide polymorphisms; Single-nucleotide polymorphism; Uterine fibroids; Uterus
• ISSN: 0022-1333; 0973-7731
• DOI: 10.1007/s12041-021-01342-x

Uterine fibroids (UF) are a significant health problem bearing a substantial economic burden. The prevalence of the disease is disparate in populations of different ethnic ancestry being the highest in Africans. This study analysed worldwide population differentiation at the genomewide association study (GWAS)-significant UF-associated loci to test a hypothesis that population structure at risk loci might underlie the observed interethnic disparities in the prevalence. In total, 28 single-nucleotide polymorphism (SNP) with the GWAS significance for European Caucasians were analysed in female cohorts of the European, admixed American, African, east Asian, and South Asian populations retrieved from the 1000 Genomes Project data. Common population genetic structure estimators, polygenic risk score (unweighted and weighted) were computed. According to the Fisher’s exact test, the populations were significantly differentiated ( P