Type 1 Diabetes Genetic Risk Scores: History, Application and Future Directions

Redondo MJ, et al. Type 1 diabetes in diverse ancestries and the use of genetic risk scores. Lancet Diabetes Endocrinol. 2022;10(8):597–608.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Fang M, Wang D, Selvin E. Prevalence of type 1 diabetes among US children and adults by Age, Sex, Race, and ethnicity. JAMA. 2024;331(16):1411–3.

Article  PubMed  PubMed Central  Google Scholar 

Redondo MJ, et al. Concordance for islet autoimmunity among monozygotic twins. N Engl J Med. 2008;359(26):2849–50.

Article  CAS  PubMed  Google Scholar 

Triolo TM, et al. Identical and Nonidentical Twins: risk and factors involved in development of Islet autoimmunity and type 1 diabetes. Diabetes Care. 2019;42(2):192–9.

Article  CAS  PubMed  Google Scholar 

Kaprio J, et al. Concordance for type 1 (insulin-dependent) and type 2 (non-insulin-dependent) diabetes mellitus in a population-based cohort of twins in Finland. Diabetologia. 1992;35(11):1060–7.

Article  CAS  PubMed  Google Scholar 

Onengut-Gumuscu S, et al. Fine mapping of type 1 diabetes susceptibility loci and evidence for colocalization of causal variants with lymphoid gene enhancers. Nat Genet. 2015;47(4):381–6.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Robertson CC, et al. Fine-mapping, trans-ancestral and genomic analyses identify causal variants, cells, genes and drug targets for type 1 diabetes. Nat Genet. 2021;53(7):962–71.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Chiou J, et al. Interpreting type 1 diabetes risk with genetics and single-cell epigenomics. Nature. 2021;594(7863):398–402.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Noble JA. Immunogenetics of type 1 diabetes: a comprehensive review. J Autoimmun. 2015;64:101–12.

Article  CAS  PubMed  Google Scholar 

Oram RA, Redondo MJ. New insights on the genetics of type 1 diabetes. Curr Opin Endocrinol Diabetes Obes. 2019;26(4):181–7.

Article  PubMed  Google Scholar 

Noble JA, Valdes AM. Genetics of the HLA region in the prediction of type 1 diabetes. Curr Diab Rep. 2011;11(6):533–42.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Noble JA, et al. The HLA class I A locus affects susceptibility to type 1 diabetes. Hum Immunol. 2002;63(8):657–64.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Nejentsev S, et al. Localization of type 1 diabetes susceptibility to the MHC class I genes HLA-B and HLA-A. Nature. 2007;450(7171):887–92.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Hu X, et al. Additive and interaction effects at three amino acid positions in HLA-DQ and HLA-DR molecules drive type 1 diabetes risk. Nat Genet. 2015;47(8):898–905.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Barrett JC, et al. Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes. Nat Genet. 2009;41(6):703–7.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Michalek DA, et al. A multi-ancestry genome-wide association study in type 1 diabetes. Hum Mol Genet. 2024;33(11):958–68.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Bell GI, Horita S, Karam JH. A polymorphic locus near the human insulin gene is associated with insulin-dependent diabetes mellitus. Diabetes. 1984;33(2):176–83.

Article  CAS  PubMed  Google Scholar 

Insel RA, et al. Staging presymptomatic type 1 diabetes: a scientific statement of JDRF, the Endocrine Society, and the American Diabetes Association. Diabetes Care. 2015;38(10):1964–74.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Torn C, et al. Role of type 1 diabetes-Associated SNPs on risk of Autoantibody Positivity in the TEDDY Study. Diabetes. 2015;64(5):1818–29.

Article  PubMed  Google Scholar 

Steck AK, et al. Improving prediction of type 1 diabetes by testing non-HLA genetic variants in addition to HLA markers. Pediatr Diabetes. 2014;15(5):355–62.

Article  CAS  PubMed  Google Scholar 

Johnson K, et al. rs11203203 is associated with type 1 diabetes risk in population pre-screened for high-risk HLA-DR,DQ genotypes. Pediatr Diabetes. 2012;13(8):611–5.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Steck AK, et al. Can Non-HLA single nucleotide polymorphisms help Stratify Risk in TrialNet relatives at risk for type 1 diabetes? J Clin Endocrinol Metab. 2017;102(8):2873–80.

Article  PubMed  PubMed Central  Google Scholar 

Krischer JP, et al. Predictors of the initiation of Islet autoimmunity and progression to multiple autoantibodies and clinical diabetes: the TEDDY Study. Diabetes Care. 2022;45(10):2271–81.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Ilonen J, et al. Genetic susceptibility to type 1 diabetes in childhood - estimation of HLA class II associated disease risk and class II effect in various phases of islet autoimmunity. Pediatr Diabetes. 2016;17:8–16.

Article  CAS  PubMed  Google Scholar 

Redondo MJ, et al. Specific human leukocyte antigen DQ influence on expression of antiislet autoantibodies and progression to type 1 diabetes. J Clin Endocrinol Metab. 2006;91(5):1705–13.

Article  CAS  PubMed  Google Scholar 

Onengut-Gumuscu S, et al. Novel genetic risk factors influence progression of islet autoimmunity to type 1 diabetes. Sci Rep. 2020;10(1):19193.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Robertson CC, et al. Untangling the genetics of beta cell dysfunction and death in type 1 diabetes. Mol Metab. 2024;86:101973.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Krischer JP, et al. Predicting Islet Cell autoimmunity and type 1 diabetes: an 8-Year TEDDY Study Progress Report. Diabetes Care. 2019;42(6):1051–60.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Vehik K, et al. Hierarchical order of distinct autoantibody spreading and progression to type 1 diabetes in the TEDDY Study. Diabetes Care. 2020;43(9):2066–73.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Inshaw JRJ, et al. Genetic variants predisposing most strongly to type 1 diabetes diagnosed under age 7 years Lie Near candidate genes that function in the Immune System and in pancreatic beta-cells. Diabetes Care. 2020;43(1):169–77.

Article  CAS  PubMed 

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