Risk Variants at the MYO10 Locus are Associated with Metabolic Traits ...

• Main Authors: Endocrine Society 2022, Battiola, Tess
• Format: Article in Journal/Newspaper
• Language: unknown
• Published: Underline Science Inc. 2022
• Subjects: Endocrinology; Iceland
• Online Access: https://dx.doi.org/10.48448/zyvk-h954; https://underline.io/lecture/63647-risk-variants-at-the-myo10-locus-are-associated-with-metabolic-traits

PCOS confers an increased risk for obesity-related comorbidities. It has been challenging to identify precise risk genes associated with the pathogenesis of PCOS. A novel variant located within MYO10 intron 2 (rs9312937) was identified in a PCOS GWAS in the genetically isolated Finnish and related Estonian populations. We identified PCOS risk variants at the MYO10 locus in additional PCOS populations. We hypothesized that PCOS risk variants at the locus were associated with metabolic traits. Women from Iceland (n=1347) and Boston (n=591) were diagnosed with PCOS using the Rotterdam criteria and NIH criteria, respectively, with a non-overlapping replication cohort (n=586) identified using an algorithm incorporating ICD codes and natural language processing. Controls included population controls from Iceland (effective n=1200), well-phenotyped controls from Boston (n=441) and a cohort with no PCOS diagnoses or features in the electronic medical record (EMR; n=749). We performed an association study to identify ...