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The Role of HLA Class II Two-Locus Haplotypes and Genotypes in Chinese With Type 1 Diabetes
Jinhan Liu1, Shuoming Luo1, Zhiguo Xie1
1National Clinical Research Center for Metabolic Diseases, Key Laboratory of Diabetes Immunology (Central South University), Ministry of Education, and Department of Metabolism and Endocrinology, The Second Xiangya Hospital of Central South University, Changsha, Hunan, China.
Diabetes/Metabolism Research and Reviews
|November 8, 2025
Summary
Genetic variations in human leucocyte antigen (HLA) DR-DQ genes show distinct type 1 diabetes (T1D) susceptibility in Chinese versus Caucasian populations. Specific HLA haplotypes, especially those with DRB1*09:01, are unique to East Asians and influence islet autoantibody profiles.
Area of Science:
- Immunogenetics
- Endocrinology
- Population Genetics
Background:
- The genetic basis of type 1 diabetes (T1D) involves human leucocyte antigen (HLA) class II genes, but ethnic-specific variations in susceptibility, particularly concerning HLA DR-DQ haplotypes and genotypes in Chinese populations, require further investigation.
- Understanding these genetic differences is crucial for elucidating T1D pathogenesis and developing targeted prevention strategies.
Purpose of the Study:
- To investigate the susceptibility associated with HLA DR-DQ haplotypes and genotypes in Chinese T1D patients.
- To compare these genetic associations with those found in Caucasian T1D populations.
- To analyze the rate of islet autoantibody positivity in T1D patients carrying different susceptible haplotypes.
Main Methods:
- A case-control study involving 626 T1D patients and 1065 healthy controls from China.
- HLA-DR-DQ genotyping performed using polymerase chain reaction sequencing-based methods.
- Islet autoantibodies (IA-2A, ZnT8A) identified using radioligand assays.
Main Results:
- Identified three highly susceptible two-locus genotypes in Chinese T1D patients: DQA1*05-DQB1*02:01, DRB1*03:01-DQB1*02:01, and DRB1*03:01-DQA1*05 homozygotes.
- Found that while the first two genotypes are also associated with T1D in Caucasians, they show different frequencies and risks; the third genotype is specific to Chinese T1D.
- Discovered several susceptibility haplotypes (e.g., DQA1*03-DQB1*04:01, DRB1*09:01-DQA1*03) unique to Chinese T1D patients, with DRB1*09:01-associated haplotypes showing distinct islet autoantibody profiles (higher IA-2A, lower ZnT8A positivity).
Conclusions:
- Significant ethnic-specific differences exist in HLA DR-DQ haplotypes and genotypes associated with T1D susceptibility between Chinese and Caucasian populations.
- Specific haplotypes, particularly those involving the DRB1*09:01 allele, are unique to East Asian T1D patients and correlate with distinct islet autoantibody profiles.
- These findings underscore the importance of considering ethnic-specific genetic markers for a comprehensive understanding and management of T1D.
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