Type 1 diabetes

A type 1 diabetes genetic risk score discriminates between type 1 diabetes and type 2 diabetes in a Chinese population

DiabetologiaPublished Genetic association and diagnostic accuracy study

Authors' conclusion

A type 1 diabetes C-GRS comprising 33 SNPs was highly discriminative of type 1 diabetes risk in the Chinese population and could aid in discriminating between type 1 diabetes and type 2 diabetes. This study highlights the potential of genetic information in improving prediction and precision diagnosis of type 1 diabetes in the Chinese population.

Study context

Population
Chinese population: discovery 1303 T1D and 2236 controls; replication 501 T1D and 853 controls; validation 262 T1D, 1080 T2D and 208 controls
Comparison
Chinese T1D genetic risk score (C-GRS) vs European-derived genetic risk score (GRS) for discriminating T1D from T2D and controls
Outcome
Discrimination between T1D and T2D by the C-GRS (AUC)
Methodological detailsgenome-wide association analysis, independent replication cohort, independent validation cohort
  • Genome-wide association analysis
  • Independent replication cohort
  • Independent validation cohort

Performance

As reported in the abstract

Discrimination (AUC) in independent validation cohort
Test or modelAUC, T1D vs controlAUC, T1D vs T2D
C-GRS0.8710.869
European-derived GRS0.7730.793

AUC, T1D vs control

C-GRS0.871
European-derived GRS0.773

AUC, T1D vs T2D

C-GRS0.869
European-derived GRS0.793

Further findings

C-GRS discrimination for T1D in derivation data
0.876 · AUC

Novel T1D locus

rs10232170 in BMPER as possible novel T1D locus
P = 9.897×10-9
Tag SNPs identified for DQA1-DQB1 haplotypes
13
Non-DQA1-DQB1 loci identified
12

Original publication

A type 1 diabetes genetic risk score discriminates between type 1 diabetes and type 2 diabetes in a Chinese population. Diabetologia. Published 26 June 2025. doi:10.1007/s00125-025-06455-x

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