References

MODY variants in GCK, HNF1A and HNF4A

Bonnefond A et al. Pathogenic variants in actionable MODY genes are associated with type 2 diabetes. Nature Metabolism. 2020 Oct;2(10):1126-1134. doi: 10.1038/s42255-020-00294-3. Epub 2020 Oct12. PMID: 33046911.

Ellard S et al. Prediction algorithms: pitfalls in interpreting genetic variants of autosomal dominant monogenic diabetes. Journal of Clinical Investigation. 2020 Jan 2;130(1):14-16. doi: 10.1172/JCI133516. PMID:31815736; PMCID: PMC6934181.

Colclough K et al. Mutations in the genes encoding the transcription factors hepatocyte nuclear factor 1 alpha and 4 alpha in maturity-onset diabetes of the young and hyperinsulinemic hypoglycemia. Hum Mutat. 2013 May;34(5):669-85. doi: 10.1002/humu.22279. Epub 2013 Apr 2. PMID: 23348805.

Osbak KK et al. Update on mutations in glucokinase (GCK), which cause maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemic hypoglycemia. Hum Mutat. 2009 Nov;30(11):1512-26. doi: 10.1002/humu.21110. PMID:19790256.

Jafar-Mohammadi B et al. Low frequency variants in the exons only encoding isoform A of HNF1A do not contribute to susceptibility to type 2 diabetes. PLoS One. 2009 Aug 12;4(8):e6615. doi: 10.1371/journal.pone.0006615. PMID: 19672314; PMCID: PMC2720540.

Radha V et al. Identification of novel variants in the hepatocyte nuclear factor-1alpha gene in South Indian patients with maturity onset diabetes of young. J Clin Endocrinol Metab. 2009 Jun;94(6):1959-65. doi: 10.1210/jc.2008-2371. Epub 2009 Mar 31. PMID: 19336507.

Ellard S et al. Best practice guidelines for the molecular genetic diagnosis of maturity-onset diabetes of the young. Diabetologia. 2008 Apr;51(4):546-53. doi: 10.1007/s00125-008-0942-y. Epub 2008 Feb 23. PMID: 18297260; PMCID: PMC2270360.

Ellard S et al. Partial and whole gene deletion mutations of the GCK and HNF1A genes in maturity-onset diabetes of the young. Diabetologia. 2007 Nov;50(11):2313-7. doi: 10.1007/s00125-007-0798-6. Epub 2007 Sep 8. PMID: 17828387.

Gloyn AL. Glucokinase (GCK) mutations in hyper- and hypoglycemia: maturity- onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemia of infancy. Hum Mutat. 2003 Nov;22(5):353-62. doi: 10.1002/humu.10277. PMID:14517946.

Bulman MP et al. Abnormal splicing of hepatocyte nuclear factor 1 alpha in maturity-onset diabetes of the young. Diabetologia. 2002 Oct;45(10):1463-7. doi: 10.1007/s00125-002-0919-1. Epub 2002 Sep 11. PMID: 12378390.

Gragnoli C et al. Maturity-onset diabetes of the young due to a mutation in the hepatocyte nuclear factor-4 alpha binding site in the promoter of the hepatocyte nuclear factor-1 alpha gene. Diabetes. 1997 Oct;46(10):1648-51. doi: 10.2337/diacare.46.10.1648. PMID: 9313764.

MODY variants in GCK, HNF1A and HNF4A in pregnancy

Delvecchio M et al. Treatment Options for MODY Patients: A Systematic Review of Literature. Diabetes Therapy. 2020 Aug;11(8):1667-1685. doi: 10.1007/s13300-020-00864-4. Epub 2020 Jun 24. PMID: 32583173.

Dickens LT et al. Management and pregnancy outcomes of women with GCK-MODY enrolled in the US Monogenic Diabetes Registry. Acta Diabetologica. 2019 Apr;56(4):405-411. doi: 10.1007/s00592-018-1267-z. Epub 2018 Dec 11. PMID: 30535721.

Dickens LT et al. Clinical Management of Women with Monogenic Diabetes During Pregnancy. Current Diabetes Reports. 2018 Feb 15;18(3):12. doi: 10.1007/s11892-018-0982-8. PMID: 29450745.

Shepherd M et al. Management of sulfonylurea-treated monogenic diabetes in pregnancy: implications of placental glibenclamide transfer. Diabetic Medicine. 2017 Oct;34(10):1332-1339. doi: 10.1111/dme.13388. Epub 2017 Jun 13. PMID: 28556992.

Chakera AJ et al. Recognition and Management of Individuals With Hyperglycemia Because of a Heterozygous Glucokinase Mutation. Diabetes Care. 2015 Jul;38(7):1383-92. doi: 10.2337/dc14-2769. PMID: 26106223.

SLCO1B1

Nguyen KA et al. A comprehensive review and meta-analysis of risk factors for statin-induced myopathy. European Journal of Clinical Pharmacology. 2018 Sep;74(9):1099-1109. doi: 10.1007/s00228-018-2482-9. Epub 2018 May 22. PMID: 29785580.

Ramsey LB et al. The clinical pharmacogenetics implementation consortium guideline for SLCO1B1 and simvastatin-induced myopathy: 2014 update. Clinical Pharmacology & Therapeutics. 2014 Oct;96(4):423-8. doi: 10.1038/clpt.2014.125. Epub 2014 Jun 11. PMID: 24918167.

Type 1 diabetes risk score

Carr ALJ et al. Histological validation of a type 1 diabetes clinical diagnostic model for classification of diabetes. Diabetic Medicine. 2020 Dec;37(12):2160-2168. doi: 10.1111/dme.14361. Epub 2020 Jul 23. PMID: 32634859.

Oram RA et al. A Type 1 Diabetes Genetic Risk Score Can Aid Discrimination Between Type 1 and Type 2 Diabetes in Young Adults. Diabetes Care. 2016 Mar;39(3):337-44. doi: 10.2337/dc15-1111. Epub 2015 Nov 17. PMID: 26577414.