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Published on: March 13, 2026
[Relationship between human leukocyte antigen-DRB1 allele gene polymorphism and intrahepatic cholestasis of
Fuqiang Chen1, Lian Fan, Lingdi Xu
1Department of Obstetrics, Shanghai Pudong New Area Health Hospital For Women and Children, Shanghai 201200, China.
Insights
The human leukocyte antigen-DRB1 (HLA-DRB1) allele gene DR6 is associated with intrahepatic cholestasis of pregnancy (ICP). This finding suggests HLA-DR6 may be a susceptibility gene for ICP.
Area of Science:
- Immunogenetics
- Obstetrics and Gynecology
Context:
- Intrahepatic cholestasis of pregnancy (ICP) is a serious pregnancy complication.
- The genetic factors contributing to ICP susceptibility are not fully understood.
Purpose:
- To investigate the association between human leukocyte antigen-DRB1 (HLA-DRB1) allele gene polymorphism and the risk of developing ICP.
Summary:
- A case-control study compared HLA-DRB1 allele frequencies in 42 ICP patients and 56 healthy pregnant women using PCR-SSO.
- The HLA-DRB1 allele DR6 was found at significantly higher frequencies in ICP patients (16.7%) compared to controls (3.6%), with a relative risk of 6.5.
- No significant association was found between HLA-DR6 and ICP clinical characteristics, liver function, or cholylglycine levels.
Impact:
- Identifies HLA-DR6 as a potential genetic susceptibility factor for ICP.
- May contribute to understanding the pathogenesis of ICP.
- Could inform future genetic screening or risk assessment strategies for ICP.
Objective:
To study the relationship between human leukocyte antigen-DRB1 (HLA-DRB1) allele genes polymorphism and intrahepatic cholestasis of pregnancy (ICP).
Methods:
Forty-two patients with ICP were tested for HLA-DRB1 allele genes polymorphism with the polymerase chain reaction technique and sequence specific oligonucleotide (PCR-SSO) probes hybridization, 56 normal pregnant women as control group were also tested. In addition, the phenotype frequencies of HLA-DRB1 alleles were compared with it's clinical character in patients with ICP.
Results:
The higher frequencies were observed for alleles DR9, DR12 and DR4 in both groups. DR6 alleles were detected in 14 cases out of 42 patients. Patients with ICP had a significantly higher frequency of the allele DR6 when compared to control group (16.7% vs 3.6%), with a relative risk (RR) as 6.5 (P < 0.01). No significant differences were observed between the frequencies of other detected HLA-DRB1 alleles in both groups. There was no association between HLA-DR6 allele and the level of liver function and cholylglycine in ICP.
Conclusion:
The study showed that HLA-DR6 gene might be one of the susceptibility genes to ICP.
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