African Ancestry and Genetic Risk for Uterine Leiomyomata

作者：Wise Lauren A^*; Ruiz Narvaez Edward A; Palmer Julie R; Cozier Yvette C; Tandon Arti; Patterson Nick; Radin Rose G; Rosenberg Lynn; Reich David

来源：American Journal of Epidemiology, 2012, 176(12): 1159-1168.

DOI：10.1093/aje/kws276

• African Americans
• African continental ancestry group
• European continental ancestry group
• female
• genetics
• leiomyoma
• prospective studies
• uterine neoplasms

Rates of uterine leiomyomata (UL) are 23 times higher in African Americans than in European Americans. It is unclear whether inherited factors explain the ethnic disparity. To investigate the presence of risk alleles for UL that are highly differentiated in frequency between African Americans and European Americans, the authors conducted an admixture-based genome-wide scan of 2,453 UL cases confirmed by ultrasound or surgery in the Black Womens Health Study (19972009), a national prospective cohort study. Controls (n 2,102) were women who did not report a UL diagnosis through 2009. Mean percentage of European ancestry was significantly lower among cases (20.00) than among controls (21.63; age-adjusted mean difference 1.76, 95 confidence interval: 2.40, 1.12; P 0.0001), and the association was stronger in younger cases. Admixture analyses showed suggestive evidence of association at chromosomes 2, 4, and 10. The authors also genotyped a dense set of tag single nucleotide polymorphisms at different loci associated with UL in Japanese women but failed to replicate the associations. This suggests that genetic variation for UL differs in populations with and without African ancestry. The admixture findings further indicate that no single highly differentiated locus is responsible for the ethnic disparity in UL, raising the possibility that multiple variants jointly contribute to the higher incidence of UL in African Americans.

• 出版日期2012-12-15