1型糖尿病中C肽的遗传学与诊断时的年龄
Genetics of C-Peptide and Age at Diagnosis in Type 1 Diabetes.
作者信息
Roshandel Delnaz, Spiliopoulou Athina, McGurnaghan Stuart J, Iakovliev Andrii, Lipschutz Debby, Hayward Caroline, Bull Shelley B, Klein Barbara E K, Lee Kristine E, Kinney Gregory L, Rewers Marian, Costacou Tina, Miller Rachel G, McKeigue Paul M, Paterson Andrew D, Colhoun Helen M
机构信息
Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, Canada.
Usher Institute of Population Health Sciences and Informatics, University of Edinburgh, Edinburgh, U.K.
出版信息
Diabetes. 2025 Feb 1;74(2):223-233. doi: 10.2337/db24-0340.
Identified genetic loci for C-peptide and type 1 diabetes (T1D) age at diagnosis (AAD) explain only a small proportion of their variation. We aimed to identify additional genetic loci associated with C-peptide and AAD. Some HLA allele/haplotypes associated with T1D also contributed to variability of C-peptide and AAD, whereas outside the HLA region, T1D loci were mostly not associated with C-peptide or AAD. Genetic variation within CTSH can affect AAD. There is still residual heritability of C-peptide and AAD outside of HLA that could benefit from larger meta-genome-wide association studies.
已确定的C肽和1型糖尿病（T1D）诊断年龄（AAD）的遗传位点仅解释了它们变异的一小部分。我们旨在识别与C肽和AAD相关的其他遗传位点。一些与T1D相关的HLA等位基因/单倍型也导致了C肽和AAD的变异性，而在HLA区域之外，T1D位点大多与C肽或AAD无关。CTSH内的遗传变异会影响AAD。在HLA之外，C肽和AAD仍存在残余遗传力，这可能受益于更大规模的全基因组关联研究。
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