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TUESDAY, April 30, 2019 (HealthDay News) — Rare variants have been identified in the DENND1A<\/i> gene that are associated with hormonal traits of polycystic ovary syndrome (PCOS), according to research published online April 30 in the Journal of Clinical Endocrinology & Metabolism<\/i>.<\/p>\n
Matthew Dapas, from the Northwestern University Feinberg School of Medicine in Chicago, and colleagues performed whole-genome sequencing on DNA from 261 individuals from 62 families with at least one daughter with PCOS. Using a quantitative trait meta-analysis, associations of rare variants with PCOS and its concomitant hormonal traits were examined.<\/p>\n
The researchers identified rare variants in DENND1A<\/i>. In PCOS families, these variants were significantly associated with reproductive and metabolic traits.<\/p>\n
“In summary, by applying family-based sequence kernel association tests on filtered whole-genome variant call data from a cohort of PCOS families, we were able to identify rare variants in the DENND1A<\/i> gene that were associated with quantitative hormonal traits of PCOS,” the authors write. “Since DENND1A<\/i> is an important regulator of androgen biosynthesis, these findings provide additional genetic evidence to support our hypothesis that hyperandrogenemia is a core biologic pathway in PCOS. Our results also suggest that rare noncoding variants contribute to the distinctive hormonal profile of PCOS.”<\/p>\n
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