Genetic Variation on 9p22 and Ovarian Ultrasound Results
Author Information
Author(s): Wentzensen Nicolas, Black Amanda, Jacobs Kevin, Yang Hannah P., Berg Christine D., Caporaso Neil, Peters Ulrike, Ragard Lawrence, Buys Saundra S., Chanock Stephen, Hartge Patricia
Primary Institution: National Cancer Institute
Hypothesis
Are 9p22 SNPs associated with abnormal ovarian ultrasound results in women without ovarian cancer?
Conclusion
The study found that certain 9p22 SNPs are associated with abnormal ovarian ultrasound results, suggesting a complex relationship between these genetic variations and ovarian biology.
Supporting Evidence
- 96 of the 1106 women had abnormal TVU results at any screening visit.
- Seven SNPs showed significant odds ratios for abnormal TVU results at the first screen.
- Women with minor alleles had fewer cysts compared to those with major alleles.
Takeaway
Some genes that might help protect against ovarian cancer are also linked to abnormal ultrasound results in women, which is a bit confusing.
Methodology
The study analyzed the association of 9p22 SNPs with transvaginal ultrasound results and CA-125 blood levels in women from the PLCO trial.
Potential Biases
Potential bias due to the low positive predictive value of TVU screening and the limited demographic diversity of the sample.
Limitations
The study's findings require independent confirmation and the data on histology reports of benign outcomes were not systematically collected.
Participant Demographics
The study included 1,106 women, primarily Caucasian, with a mean age range of 55-74 years.
Statistical Information
P-Value
p=0.002 for rs12379183
Confidence Interval
95% CI: 1.04–2.72 for rs4961501
Statistical Significance
p<0.05
Digital Object Identifier (DOI)
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