ISSN 1662-4009 (online)

ey0020.11-10 | Diabetes | ESPEYB20

11.10. Type 1 diabetes in diverse ancestries and the use of genetic risk scores

MJ Redondo , CR Gignoux , D Dabelea , WA Hagopian , S Onengut-Gumuscu , RA Oram , SS Rich

Brief summary: This review article discusses the influence of genetics on type 1 diabetes (T1D), particularly with regard to differences across diverse genetic ancestries, and the development of validated genetic risk scores (GRS) for use various populations. These may contribute to disease prevention and treatment.The autoimmune destruction of pancreatic beta cells is triggered by the interaction of genetic predisposition and environmental factors. T1D ...

ey0019.10-2 | Reviews | ESPEYB19

10.2. Screening for type 1 diabetes in the general population: a status report and perspective

EK Sims , REJ Besser , C Dayan , Rasmussen C Geno , C Greenbaum , KJ Griffin , W Hagopian , M Knip , AE Long , F Martin , C Mathieu , M Rewers , AK Steck , JM Wentworth , SS Rich , O Kordonouri , AG Ziegler , KC Herold

NIDDK Type 1 Diabetes TrialNet Study Group.Diabetes. 2022 Apr 1;71(4):610-623. Summary: This is a comprehensive review on general population screening, a current hot topic in the field of type 1 diabetes (T1D). The authors provide a critical overview of the rationale for population screening, arguments for and against it, current efforts to gui...

ey0019.10-4 | Mechanisms | ESPEYB19

10.4. Childhood body size directly increases type 1 diabetes risk based on a lifecourse Mendelian randomization approach

TG Richardson , DJM Crouch , GM Power , F Morales-Berstein , E Hazelwood , S Fang , Y Cho , JRJ Inshaw , CC Robertson , C Sidore , F Cucca , SS Rich , JA Todd , Smith G Davey

Nat Commun. 2022 Apr 28;13(1):2337. Summary: This Mendelian randomization study analysed genetic data from 454,023 individuals from the UK Biobank and 15,573 type 1 diabetes (T1D) cases from other cohorts and provides strong evidence that larger childhood body size increases T1D risk, independently from body size at birth and during adulthood.<...

ey0019.10-16 | Genetics | ESPEYB19

10.16. Fine-mapping, trans-ancestral and genomic analyses identify causal variants, cells, genes and drug targets for type 1 diabetes

CC Robertson , JRJ Inshaw , S Onengut-Gumuscu , WM Chen , Cruz DF Santa , H Yang , AJ Cutler , DJM Crouch , E Farber , SL Jr Bridges , JC Edberg , RP Kimberly , JH Buckner , P Deloukas , J Divers , D Dabelea , JM Lawrence , S Marcovina , AS Shah , CJ Greenbaum , MA Atkinson , PK Gregersen , JR Oksenberg , F Pociot , MJ Rewers , AK Steck , DB; Type 1 Diabetes Genetics Consortium Dunger , LS Wicker , P Concannon , JA Todd , SS Rich

Nat Genet. 2021 Jul;53(7):962-971. Summary: The authors report the largest and most diverse genome-wide association study (GWAS) of type 1 diabetes (T1D) to date, including 61,427 participants from different ancestries. It identified 78 significant genomic regions associated with T1D, of which 36 were new. The integration of genetic evidence, f...