In the Journals

Genetic ancestry data could improve PCOS classification, treatment

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July 15, 2014

Genetic ancestry data could help avoid polycystic ovary syndrome misclassification that can occur through self-reported ethnicity, according to research published in The Journal of Clinical Endocrinology & Metabolism.

Verifying genetic ancestry in patients with PCOS could particularly help in the development of treatment and prevention strategies due to a larger proportion of associated phenotypic variability available, the researchers suggested.

“We observed that, when using genome-wide data, genetic ancestry explains a larger proportion of variability in the phenotypic characteristics of PCOS compared with self-reported ethnicity,” the researchers wrote. “This finding allows concluding that genetic ancestry is a better predictor for phenotypic variability in PCOS than self-reported ethnicity. This was in particular the case for insulin levels, which variability was solely determined by the genetic ancestry clusters.”

Y.V. Louwers, MD, of Erasmus University Medical Center in Rotterdam, the Netherlands, and colleagues compared the effect of the two types of data among 1,499 patients who comprised 11 self-reported ethnic groups of European, African, American and Asian descent.

Patients were genotyped using a high-resolution genome-wide microarray analysis. That data were then merged with genotyped data available for a worldwide reference panel (152,375 independent single nucleotide polymorphisms), including 53 populations for ancestry correlation.

The investigators used algorithms that infer genetic relationships to determine genetic ancestry for individual patients. The best predictor for variability in PCOS characteristics was determined through regression analysis.

The association between the two sets of data was moderate. Mainly genetic ancestry clusters in the final models (P values<.004) for amenorrhea, total follicle count, BMI, sex hormone-binding globulin, DHEA-sulfate and insulin indicated larger proportion of variability in these PCOS characteristics vs. self-reported ethnicity.

“By using genetic ancestry instead of self-reported ethnicity, misclassification based on family records or in admixed individuals can be avoided. Therefore, genetic ancestry is recommended to be used for the more accurate determination of bio-geographic origin,” the researchers wrote. “Moreover, as genetic ancestry explained a larger proportion of phenotypic variability associated with PCOS than self-reported ethnicity, future studies should also focus on genetic ancestry verification of PCOS patients for research questions, treatment as well as preventive strategies in these women.”

Disclosure: Please see study for full list of researchers’ financial disclosures.

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