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Relationship between autoimmune hepatitis and HLA-DR4 and DRbeta allelic sequences in the third hypervariable region
1Shanghai Institute of Digestive Disease, Shanghai Second Medical University, Affiliated Renji Hospital, 145 Shandong Zhonglu, Shanghai 200001, China. Xiongma@netease.com
Insights
Autoimmune hepatitis (AIH) in Chinese patients is linked to HLA-DR4. A specific QRRAA sequence in the DRB allele also shows a strong association with AIH.
Area of Science:
- Immunogenetics
- Hepatology
- Human Leukocyte Antigen (HLA) research
Background:
- Autoimmune hepatitis (AIH) is a chronic liver disease of unknown etiology.
- Genetic factors, particularly Human Leukocyte Antigen (HLA) genes, are implicated in AIH susceptibility.
- Previous studies suggest HLA associations, but specific alleles in Chinese populations require further investigation.
Purpose of the Study:
- To investigate the association between Human Leukocyte Antigen - DRB1 (HLA-DRB1) alleles and autoimmune hepatitis (AIH) in a Chinese cohort.
- To identify specific HLA-DRB1 alleles or polymorphic sequences linked to AIH risk in this population.
Main Methods:
- Human Leukocyte Antigen - DRB1 (HLA-DRB1) typing was performed using polymerase chain reaction with sequence-specific primers (PCR-SSP).
- The study included 32 patients diagnosed with AIH and 48 healthy individuals as controls.
- Allele and polymorphic sequence frequencies were compared between AIH patients and healthy controls.
Main Results:
- A significantly higher frequency of HLA-DRB1*04 (DR4) was observed in AIH patients compared to healthy controls (46.9% vs 20.8%, P=0.014).
- A trend towards increased frequency of the DRB1*0405 subtype was noted in AIH patients (21.9% vs 6.3%, P=0.04).
- The QRRAA sequence within the third hyperpolymorphic region of DR4 showed a significantly increased frequency in AIH patients (86.7% vs 40.0%, P=0.016).
Conclusions:
- The HLA-DRB1*04 allele is associated with an increased risk of autoimmune hepatitis (AIH) in the Chinese population.
- The QRRAA polymorphic sequence within the DRB allele is significantly linked to AIH in Chinese individuals, suggesting a potential role in disease pathogenesis.
Aim:
To analyze the association of HLA-DRB1 with autoimmune hepatitis (AIH) in patients from China.
Methods:
In 32 patients and 48 healthy controls, polymerase chain reaction amplification with sequence-specific primers (PCR-SSP) was performed to examine the association of certain alleles or polymorphic sequences of HLA-DRB1 with AIH.
Results:
HLA-DRB1 typing by PCR-SSP showed that DR4 had a significantly increased frequency among patients with AIH versus healthy control (46.9% versus 20.8%; relative risk = 3.35, P=0.014). In subtypes of DR4, there was a trend of increase in the gene frequency of DRB1 0405 in patients with AIH versus healthy controls (21.9% vs 6.3%, P=0.04, but P(c) =0.08). In addition, a significant increase was found in the alleles frequency encoding QRRAA from the third hyperpolymorphic region of DR4 in the patients with AIH (86.7% of DR4 positive patients vs 40.0% in DR4 positive controls, P=0.016, P(c)=0.028, RR=9.75).
Conclusion:
AIH in Chinese is associated with HLA-DR4. There is a relationship between QRRAA sequence within the third hyperpolymorphic region of the DRB allele and AIH in Chinese.