First Chinese-specific T1D genetic risk scoring tool signifies a leap forward in correct diabetes diagnosis

The first type 1 diabetes (T1D) genetic risk score (GRS) tailored for the Chinese population, developed by a joint research team from The Chinese University of Hong Kong’s (CUHK), the UK and China, signifies a leap forward in correct diagnosis of diabetes.

The Chinese GRS (C-GRS) comprises 33 genetic markers and exhibited high accuracy of almost 90 percent in distinguishing between individuals with T1D and controls, as well as between those with T1D and type 2 diabetes (T2D), when validated in two independent cohorts from Hong Kong and mainland China, significantly outperforming European-based scoring tools when applied to Asian populations.  C-GRS was developed from a genome-wide association study (GWAS) that investigated T1D susceptibility loci unique to or strongly associated with the Chinese population, such as the HLA-DQ subtypes and BMPER. [Diabetologia 2025;doi.org/10.1007/s00125-025-06455-x]

“This means that approximately, an additional 20–40 of every 100 people presenting with T1D would get the right diagnosis with the new tool. C-GRS can also be used for prediction and identification of individuals at high risk of developing T1D, particularly those with a family history of of the disease,” said Professor Ronald Ma, leader of the CUHK research team.

Prior to C-GRS, available GRS models were derived from populations of European ancestry, and their discriminatory power may differ in cohorts of different ancestries due to discrepancies in genomic architecture and allele frequency. “[Hence], this study will directly benefit potentially millions of people with diabetes in East Asia who may be misdiagnosed,” said Professor Richard Oram from the University of Exeter, UK.

Among adults with T1D, approximately 40 percent were initially misdiagnosed as having T2D, leading to delayed insulin treatment and consequentially severe complications. This challenge is particularly pronounced in the Chinese population, where young-onset T2D in individuals with lower BMI and older age at T1D diagnosis are common.  [Diabetes Care 2021;44:2449-2456; Diabetologia 2019;62:1167-1172; Sci Rep 2017;7:46534; Diabetes 2018;67:3-11; Diabetologia 2018;61:1249-1260; Diabetes Care 2022;45:994-1006; Br J General Pract 2016;66:e315-e322] These observations provided impetus for the current study.

“We are delighted that this collaboration has significantly advanced our understanding of the genetic basis of T1D in the Chinese population. By identifying genetic factors most strongly linked to T1D in Chinese, our work has improved the prediction and classification of diabetes,” said Professor Zhiguang Zhou of the Second Xiangya Hospital of Central South University, China.

“It is very hard to tell from symptoms alone whether an individual has T1D or T2D, but this makes a big difference to treatment and blood sugar control,” said Ma. “This innovative testing technology is cost-effective and requires only a single test for diagnosis, representing a leap forward in getting the right diabetes diagnosis. We are now evaluating how to incorporate the use of C-GRS into the regular diagnostic workflow of diabetes, with a view of getting the right diabetes diagnosis at the first time, which will enhance the standard of diabetes management across Asia.’’