Genetic Variation on 9p22 Is Associated with Abnormal Ovarian Ultrasound Results in the Prostate, Lung, Colorectal, and Ovarian Cancer Screening Trial
Genetic Variation on 9p22 Is Associated with Abnormal Ovarian Ultrasound Results in the Prostate, Lung, Colorectal, and Ovarian Cancer Screening Trial
A recent ovarian cancer genome-wide association study (GWAS) identified a locus on 9p22 associated with reduced ovarian cancer risk. The single nucleotide polymorphism (SNP) markers localize to the BNC2 gene, which has been associated with ovarian development.We analyzed the association of 9p22 SNPs with transvaginal ultrasound (TVU) screening results and CA-125 blood levels from participants without ovarian cancer in the Prostate, Lung, Colorectal, and Ovarian Cancer Screening Trial (PLCO); 1,106 women with adequate ultrasound screening results and available genotyping information were included in the study.We observed a significantly increased risk of abnormal suspicious TVU results for seven SNPs on 9p22, with odds ratios between 1.68 (95% CI: 1.04-2.72) for rs4961501 and 2.10 (95% CI: 1.31-3.38) for rs12379183. Associations were restricted to abnormal suspicious findings at the first TVU screen. We did not observe an association between 9p22 SNPs and CA-125 levels.Our findings suggest that 9p22 SNPs, which were found to be associated with decreased risk of ovarian cancer in a recent GWAS, are associated with sonographically detectable ovarian abnormalities. Our results corroborate the relevance of the 9p22 locus for ovarian biology. Further studies are required to understand the complex relationship between screening abnormalities and ovarian carcinogenesis and to evaluate whether this locus can influence the risk stratification of ovarian cancer screening.
- National Cancer Institute United States
- Division of Cancer Epidemiology and Genetics United States
- Huntsman Cancer Institute United States
- Westat (United States) United States
- University of Utah Health Care United States
Male, Lung Neoplasms, Genotype, Science, Polymorphism, Single Nucleotide, Linkage Disequilibrium, Gene Frequency, Risk Factors, Humans, Genetic Testing, Aged, Ovarian Neoplasms, Clinical Trials as Topic, Q, R, Prostatic Neoplasms, Middle Aged, DNA-Binding Proteins, CA-125 Antigen, Medicine, Female, Chromosomes, Human, Pair 9, Colorectal Neoplasms, Research Article, Genome-Wide Association Study
Male, Lung Neoplasms, Genotype, Science, Polymorphism, Single Nucleotide, Linkage Disequilibrium, Gene Frequency, Risk Factors, Humans, Genetic Testing, Aged, Ovarian Neoplasms, Clinical Trials as Topic, Q, R, Prostatic Neoplasms, Middle Aged, DNA-Binding Proteins, CA-125 Antigen, Medicine, Female, Chromosomes, Human, Pair 9, Colorectal Neoplasms, Research Article, Genome-Wide Association Study
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