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- Title
Combining polygenic risk scores and human leukocyte antigen variants for personalized risk assessment of type 1 diabetes in the Taiwanese population.
- Authors
Liao, Wen‐Ling; Huang, Yu‐Nan; Chang, Ya‐Wen; Liu, Ting‐Yuan; Lu, Hsing‐Fang; Tiao, Zih‐Yu; Su, Pen‐Hua; Wang, Chung‐Hsing; Tsai, Fuu‐Jen
- Abstract
Aims: To analyse the genome‐wide association study (GWAS) data of patients with type 1 diabetes mellitus (T1D) in order to develop a risk score for the genetic effects on T1D risk and age at diagnosis in the Taiwanese population. Materials and Methods: We selected 610 patients with T1D and 2511 healthy individuals from an electronic medical record database of more than 300 000 individuals with genetic information, analysed their GWAS data, and developed a polygenic risk score (PRS). Results: The PRS, based on 149 selected single‐nucleotide polymorphisms, could effectively predict T1D risk. A PRS increase was associated with increased T1D risk (odds ratio [OR] 2.09, 95% confidence interval [CI] 1.72‐2.55). Moreover, a 1‐unit increase in standardized T1D PRS decreased the age at diagnosis by 0.74 years. Combined PRS and human leukocyte antigen (HLA) DQA1*03:02–DQA1*05:01 genotypes could accurately predict T1D risk. In multivariable models, HLA variants and PRS were independent risk factors for T1D risk (OR 3.76 [95% CI 1.54‐9.16] and 1.71 [95% CI 1.37‐2.13] for HLA DQA1*03:02–DQA1*05:01 and PRS, respectively). In a limited study population of those aged ≤18 years, PRS remained significantly associated with T1D risk. The association between T1D PRS and age at diagnosis was more obvious among males and patients aged ≤18 years. Conclusions: 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.
- Subjects
DISEASE risk factors; HLA histocompatibility antigens; TAIWANESE people; MONOGENIC &; polygenic inheritance (Genetics); TYPE 1 diabetes; DIABETIC acidosis; ALLELES
- Publication
Diabetes, Obesity & Metabolism, 2023, Vol 25, Issue 10, p2928
- ISSN
1462-8902
- Publication type
Article
- DOI
10.1111/dom.15187