| Autor: |
Starlard-Davenport A; Department of Medical Genetics, University of Arkansas for Medical Sciences, Little Rock, AR 72205, United States of America., Orloff MS; Department of Epidemiology, College of Public Health, University of Arkansas for Medical Sciences, Little Rock, AR 72205, United States of America., Dhakal I; Department of Biostatistics, University of Arkansas for Medical Sciences, Little Rock, AR 72205, United States of America., Penney RB; Department of Environmental and Occupational Health, College of Public Health, University of Arkansas for Medical Sciences, Little Rock, AR 72205, United States of America., Kadlubar SA; Department of Medical Genetics, University of Arkansas for Medical Sciences, Little Rock, AR 72205, United States of America. |
| Jazyk: |
angličtina |
| Zdroj: |
PloS one [PLoS One] 2015 Feb 03; Vol. 10 (2), pp. e0117347. Date of Electronic Publication: 2015 Feb 03 (Print Publication: 2015). |
| DOI: |
10.1371/journal.pone.0117347 |
| Abstrakt: |
CYP19A1 facilitates the bioconversion of estrogens from androgens. CYP19A1 intron single nucleotide polymorphisms (SNPs) may alter mRNA splicing, resulting in altered CYP19A1 activity, and potentially influencing disease susceptibility. Genetic studies of CYP19A1 SNPs have been well documented in populations of European ancestry; however, studies in populations of African ancestry are limited. In the present study, ten 'candidate' intronic SNPs in CYP19A1 from 125 African Americans (AA) and 277 European Americans (EA) were genotyped and their frequencies compared. Allele frequencies were also compared with HapMap and ASW 1000 Genomes populations. We observed significant differences in the minor allele frequencies between AA and EA in six of the ten SNPs including rs10459592 (p<0.0001), rs12908960 (p<0.0001), rs1902584 (p = 0.016), rs2470144 (p<0.0001), rs1961177 (p<0.0001), and rs6493497 (p = 0.003). While there were no significant differences in allele frequencies between EA and CEU in the HapMap population, a 1.2- to 19-fold difference in allele frequency for rs10459592 (p = 0.004), rs12908960 (p = 0.0006), rs1902584 (p<0.0001), rs2470144 (p = 0.0006), rs1961177 (p<0.0001), and rs6493497 (p = 0.0092) was observed between AA and the Yoruba (YRI) population. Linkage disequilibrium (LD) blocks and haplotype clusters that is unique to the EA population but not AA was also observed. In summary, we demonstrate that differences in the allele frequencies of CYP19A1 intron SNPs are not consistent between populations of African and European ancestry. Thus, investigations into whether CYP19A1 intron SNPs contribute to variations in cancer incidence, outcomes and pharmacological response seen in populations of different ancestry may prove beneficial. |
| Databáze: |
MEDLINE |
| Externí odkaz: |
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