Genetic Discrimination Between LADA and Childhood-Onset Type 1 Diabetes Within the MHC

Diabetes Care. 2020 Feb;43(2):418-425. doi: 10.2337/dc19-0986. Epub 2019 Dec 16.

Abstract

Objective: The MHC region harbors the strongest loci for latent autoimmune diabetes in adults (LADA); however, the strength of association is likely attenuated compared with that for childhood-onset type 1 diabetes. In this study, we recapitulate independent effects in the MHC class I region in a population with type 1 diabetes and then determine whether such conditioning in LADA yields potential genetic discriminators between the two subtypes within this region.

Research design and methods: Chromosome 6 was imputed using SNP2HLA, with conditional analysis performed in type 1 diabetes case subjects (n = 1,985) and control subjects (n = 2,219). The same approach was applied to a LADA cohort (n = 1,428) using population-based control subjects (n = 2,850) and in a separate replication cohort (656 type 1 diabetes case, 823 LADA case, and 3,218 control subjects).

Results: The strongest associations in the MHC class II region (rs3957146, β [SE] = 1.44 [0.05]), as well as the independent effect of MHC class I genes, on type 1 diabetes risk, particularly HLA-B*39 (β [SE] = 1.36 [0.17]), were confirmed. The conditional analysis in LADA versus control subjects showed significant association in the MHC class II region (rs3957146, β [SE] = 1.14 [0.06]); however, we did not observe significant independent effects of MHC class I alleles in LADA.

Conclusions: In LADA, the independent effects of MHC class I observed in type 1 diabetes were not observed after conditioning on the leading MHC class II associations, suggesting that the MHC class I association may be a genetic discriminator between LADA and childhood-onset type 1 diabetes.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Age of Onset
  • Alleles
  • Case-Control Studies
  • Child
  • Child, Preschool
  • Chromosomes, Human, Pair 6 / genetics
  • Cohort Studies
  • Diabetes Mellitus, Type 1 / classification
  • Diabetes Mellitus, Type 1 / diagnosis
  • Diabetes Mellitus, Type 1 / epidemiology
  • Diabetes Mellitus, Type 1 / genetics*
  • Diagnosis, Differential
  • Female
  • Genes, MHC Class I / genetics*
  • Genes, MHC Class II / genetics*
  • Genetic Association Studies
  • Genetic Testing* / methods
  • Humans
  • Latent Autoimmune Diabetes in Adults / classification
  • Latent Autoimmune Diabetes in Adults / diagnosis
  • Latent Autoimmune Diabetes in Adults / genetics*
  • Male
  • Polymorphism, Single Nucleotide
  • Young Adult