Redondo Maria J, Oram Richard A, Steck Andrea K
Texas Children's Hospital/Baylor College of Medicine, 6701 Fannin Street, CC1020, Houston, TX, 77030, USA.
University of Exeter Medical School, Institute of Biomedical and Clinical Science, RILD Building, Royal Devon and Exeter Hospital, Barrack Road, Exeter, EX2 5DW, UK.
Curr Diab Rep. 2017 Oct 28;17(12):129. doi: 10.1007/s11892-017-0961-5.
About 50% of the heritability of type 1 diabetes (T1D) is attributed to human leukocyte antigen (HLA) alleles and the remainder to several (close to 50) non-HLA loci. A current challenge in the field of the genetics of T1D is to apply the knowledge accumulated in the last 40 years towards differential diagnosis and risk assessment.
T1D genetic risk scores seek to combine the information from HLA and non-HLA alleles to improve the accuracy of diagnosis, prediction, and prognosis. Here, we describe genetic risk scores that have been developed and validated in various settings and populations. Several genetic scores have been proposed that merge disease risk information from multiple genetic factors to optimize the use of genetic information and ultimately improve prediction and diagnosis of T1D.
1型糖尿病（T1D）约50%的遗传力归因于人类白细胞抗原（HLA）等位基因，其余归因于若干（近50个）非HLA基因座。T1D遗传学领域当前面临的一项挑战是将过去40年积累的知识应用于鉴别诊断和风险评估。
T1D遗传风险评分旨在整合来自HLA和非HLA等位基因的信息，以提高诊断、预测和预后的准确性。在此，我们描述了已在各种环境和人群中开发并验证的遗传风险评分。已经提出了几种遗传评分，它们合并了来自多个遗传因素的疾病风险信息，以优化遗传信息的使用，并最终改善T1D的预测和诊断。
