Combining polygenic risk scores and human leukocyte antigen variants for personalized risk assessment of type 1 diabetes in the Taiwanese population
Authors' conclusion
Polygenic risk score and HLA variations enable personalized risk estimates, enhance newborn screening efficiency for ketoacidosis prevention, and addresses the gap in data on T1D prediction in isolated Asian populations.
Study context
- Population
- Taiwanese individuals from an electronic medical record database of >300,000 individuals with genetic information
- Participants
- 610 vs 2,511
- Comparison
- T1D vs healthy individuals
- T1Dn = 610
- Healthy individualsn = 2,511reference
- Outcome
- T1D risk and age at diagnosis predicted by a PRS based on 149 SNPs
Methodological detailspolygenic risk score development, electronic medical record database
- Polygenic risk score development
- Electronic medical record database
Main finding
As reported in the abstract
T1D risk per PRS increase
Polygenic risk score (PRS) increase and T1D risk, OR
2.09
95% CI 1.72–2.55
Change in age at diagnosis per 1-unit increase in standardized T1D PRS
decreased by 0.74 years
Observational data: associations, not effects.
Further findings
Multivariable model: independent risk factors for T1D
- Human leukocyte antigen (HLA) DQA1*03:02-DQA1*05:01, OR
- 3.76 (95% CI 1.54-9.16)
- PRS, OR
- 1.71 (95% CI 1.37-2.13)
Subgroup aged ≤18 years
- PRS remained significantly associated with T1D risk
PRS and age at diagnosis by subgroup
- Association more obvious among males and patients aged ≤18 years
Original publication
Combining polygenic risk scores and human leukocyte antigen variants for personalized risk assessment of type 1 diabetes in the Taiwanese population. Diabetes Obes Metab. Published 17 July 2023. doi:10.
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