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ey0020.9-9 | Genetic Obesity and Genetic Risk Score | ESPEYB20

9.9. Genetic risk score enhances the risk prediction of severe obesity in adult survivors of childhood cancer

Y Sapkota , W Qiu , SB Dixon , CL Wilson , Z Wang , J Zhang , W Leisenring , EJ Chow , S Bhatia , GT Armstrong , LL Robison , MM Hudson , A Delaney , Y Yasui

Brief summary: This study evaluated the ability of genetic risk scores to predict severe obesity in adult survivors of childhood cancer. Data from 2548 survivors of European ancestry from the St. Jude Lifetime Cohort Study was analyzed and findings were validated in 6064 survivors from the Childhood Cancer Survivor Study. Survivors with higher genetic risk scores had significantly higher odds of severe obesity. Adding genetic risk scores to prediction models that included canc...

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ey0015.2-11 | FOXP3 mutations lead to early onset diabetes mellitus with no other clinical manifestations | ESPEYB15

FOXP3 mutations can lead to early onset diabetes mellitus with no other clinical manifestations

JL Hwang , SY Park , H Ye , M Sanyoura , AN Pastore , D Carmody , D Del Gaudio , JF Wilson , CL Hanis , X Liu , G Atzmon , B Glaser , LH Philipson , SAW Greeley , Consortium T2D-Genes

To read the full abstract: Pediatr Diabetes. 2018 May;19(3):388-392Mutations in FOXP3 are associated with a severe, early-onset, autoimmunity syndrome known in males known as IPEX (immune dysregulation, polyendocrinopathy, enteropathy, X-linked; OMIM [Online Mendelian Inheritance in Man] 304930). The gene maps to chromosome Xp11.23 and encodes a 431–amino acid protein, also named &#8216...

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ESPE Yearbook of Paediatric Endocrinology

9.9. Genetic risk score enhances the risk prediction of severe obesity in adult survivors of childhood cancer

FOXP3 mutations can lead to early onset diabetes mellitus with no other clinical manifestations

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