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ey0015.13-14 | Type 1 and Type 2 Diabetes in Resource-Limited Settings | ESPEYB15

13.14 Impact of common genetic determinants of Hemoglobin A1c on type 2 diabetes risk and diagnosis in ancestrally diverse populations: A transethnic genome-wide meta-analysis

E Wheeler , A Leong , CT Liu , MF Hievert , R Strawbridge , C Podmore

This GWAS meta-analysis combined data from five well known ethnically diverse cohorts (Framingham Heart Study, Atherosclerosis Risk in Communities Study, Multiethnic Study of Atherosclerosis, Taiwan-Metabochip Study for Cardiovascular Disease, and Singapore Prospective Study) to evaluate glycemic and erythrocytic genetic variants impacting HbA1c in individuals of European, African American, and East Asians ancestry. The study found new and known glycemic and...

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ey0019.6-9 | Basic and Genetic Research of DSD | ESPEYB19

6.9. Whole exome sequencing reveals copy number variants in individuals with disorders of sex development

R Sreenivasan , K Bell , den Bergen J van , G Robevska , D Belluoccio , R Dahiya , GM Leong , J Dulon , P Touraine , EJ Tucker , K Ayers , A Sinclair

Mol Cell Endocrinol. 2022 Apr 15;546:111570. PMID: 35051551, doi: 10.1016/j.mce.2022.111570. Brief Summary: This report emphasizes the importance of screening for copy number variants (CNVs) using parallel genomic techniques for diagnosing unsolved cases of complete androgen insensitivity syndrome (CAIS) as well as other DSDs, where traditional sequencing techniques fail to detect a genetic...

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ESPE Yearbook of Paediatric Endocrinology

13.14 Impact of common genetic determinants of Hemoglobin A1c on type 2 diabetes risk and diagnosis in ancestrally diverse populations: A transethnic genome-wide meta-analysis

6.9. Whole exome sequencing reveals copy number variants in individuals with disorders of sex development

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