Related Experiment Videos
[HLA haplotypes associated with IgA nephropathy]
1Second Department of Internal Medicine, Faculty of Medicine, Kagoshima University, Japan.
Insights
Certain human leukocyte antigen (HLA) haplotypes, particularly those involving DR4-DQ4, DR4-DQ3, and DR9-DQ3, are linked to IgA nephropathy susceptibility in Japanese individuals. Conversely, the A24Cw-B52DR2DQ1 haplotype may offer protection.
Area of Science:
- Immunogenetics
- Nephrology
Context:
- IgA nephropathy (IgAN) is a primary glomerulonephritis with a complex etiology.
- Genetic factors, particularly human leukocyte antigen (HLA) genes, are implicated in IgAN pathogenesis.
Purpose:
- To investigate the association between specific HLA antigens, haplotypes, and IgA nephropathy in a Japanese population.
- To identify HLA genetic markers related to IgAN susceptibility and clinical presentation.
Summary:
- A study of 44 Japanese IgA nephropathy patients and relatives revealed significant associations between HLA and IgAN.
- Increased frequencies of DQ4, DR4-DQ4, and specific DR4/DR9 genotypes (e.g., DR4/DR5,6,8 and DR9/DR5,6,8) were observed in patients.
- The A24Cw-B52DR2DQ1 haplotype was decreased, suggesting a protective role.
Impact:
- Findings suggest that specific HLA haplotypes, such as DR4-DQ4, DR4-DQ3, and DR9-DQ3, contribute to IgA nephropathy susceptibility.
- The A24Cw-B52DR2DQ1 haplotype may be associated with resistance to IgA nephropathy development.
- HLA typing could potentially aid in understanding IgAN pathogenesis and identifying at-risk individuals.
Abstract:
Forty-four Japanese patients with IgA nephropathy and their relatives were typed for HLA-A, B, C, DR and DQ antigens and their HLA haplotypes were determined. The frequency of DQ4 increased significantly in the patients as compared with that in 100 healthy control persons (Pc < 0.01). DR4 frequency was higher than in the control subjects but revealed no significant difference (p < 0.05, Pc > 0.05). The incidence of DR4-DQ4 haplotype was increased in the patients (54.5%) and A24Cw-B52DR2DQ1 haplotype which is very common in the Japanese population was decreased as compared with controls of general Japanese population. Thirty-nine cases of 44 (88.6%) had DR4 or DR9 and HLA genotypes of DR4/DR 5, 6, 8 and DR9/DR5, 6, 8 were significantly increased as compared with those in the control subjects (P < 0.001). The incidence of DR4 was significantly higher in the patients with macroscopic hematuria as compared with those without (P < 0.01). No specific HLA antigens or HLA haplotypes were related to the prognosis of IgA nephropathy. These findings suggested that HLA haplotypes associated with DR4-DQ4, DR4-DQ3 and DR9-DQ3 as well as those associated with DR5, 6, 8 might be involved in susceptibility to IgA nephropathy, while A24Cw-B52DR2DQ1 haplotype might be resistant to the disease development.