Genetic variation associated with uterine fibroid susceptibility among African, Asian and European Populations

Abstract

Uterine leiomyomata (UL) also known as uterine fibroids are benign neoplasms arising from smooth muscle cells of the myometrium and are clinically recognized in approximately 30% of reproductive age women. (Buttram and Reiter, 1981). Single Nucleotide Polymorphisms (SNPs); chromosome10q24.33 rs7913069, chromosome11p15.5 rs2280543 and chromosome22q13.1 rs12484776 are associated with susceptibility to uterine leiomyoma/fibroids (UL) in Japanese women. The aim of this study was to determine the frequency of those variants in African, Asian and European populations. The study population consisted of 400 individuals from 8 different populations; 50 individuals from African ancestry from South West US (ASW), 50 individuals from Han Chinese in Beijing (CHB), 50 individuals from British in England and Scotland (GBR), 50 individuals from Gambian in Western Division (GWD), 50 individuals from Luhya in Webuye in Kenya (LWK), 50 individuals from Mende in Sierra Leone (MSL) and 50 individuals from Yoruba in Ibadan in Nigeria (YRI). Variant call format (VCF) files from 1000 genomes data Phase3 were used to extract positions and the target populations for further analysis. Asian women were more potentially susceptible to UL because they had the highest Minor Allele Frequency (MAF) in rs2280543 and rs12484776 compared to the other populations. 27% of the CHB population possess rs12484776 and 17% also possess rs2280543. Africans had the second highest MAF for rs2280543 and rs12484776 and Europeans the lowest MAF implying that they are least susceptible to UL. CHB-MSL populations had the highest pairwise weighted FST estimates which showed that they are unrelated. The Multi-Dimensional Scaling (MDS) plots displayed a large genetic distance between the populations with the lowest being in African populations in which the GWD and LWK were closest together. The large genetic distance indicated high polymorphism and divergence in the populations