Abstract
A few family studies have evaluated HLA antigens in Alport's syndrome; however, there are no large population studies. In the present report, we studied 40 unrelated white patients with Alport's syndrome seen at the Unit of Renal Transplantation, Faculty of Medicine of Ribeirão Preto, São Paulo, Brazil. HLA-A, -B, -DR and -DQ antigens were typed using a complement-dependent microlymphocytotoxicity assay. A control white population (N = 403) from the same geographical area was also typed for HLA antigens. Although the frequencies of HLA-A and -B antigens of patients were not statistically different from controls, the frequency of HLA-DR2 antigen observed in patients (65%) was significantly increased in relation to controls (26%; P < 0.001). The relative risk and etiologic fraction for HLA-DR2 antigen were 5.2 and 0.525, respectively. Although few immunological abnormalities have been shown in Alport's syndrome, in this report we emphasize the association of HLA molecules and Alport's syndrome. Besides the well-known inherited molecular defects encoded by type IV collagen genes in Alport's syndrome, the major histocompatibility alleles may be in linkage disequilibrium with these defective collagen genes.
Highlights
Alport’s syndrome is a genetic disorder of type IV collagen involving non-homogeneous patterns of inheritance (1)
We studied 40 patients (23 males) with Alport’s syndrome aged 11-53 years, who had been referred to the Unit of Renal Transplantation at the University Hospital, Faculty of Medicine of Ribeirão Preto, São Paulo, Brazil, to participate in the kidney sharing program of the São Paulo Interior Transplante (SPIT)
Relative risk (RR), which indicates how many times more often the disease occurs in individuals with the HLA antigen compared to those without it, and etiologic fraction (EF), which defines the attributable risk at the population level, were calculated (11)
Summary
Alport’s syndrome is a genetic disorder of type IV collagen involving non-homogeneous patterns of inheritance (1). The Xlinked form, which has been mapped to the long arm of chromosome X (Xq 22), and the autosomal dominant or recessive varieties which have been located on chromosome 2 are associated with mutations and deletions of the COL4A5 and COL4A3/COL4A4 genes, respectively, which encode α chains of type IV collagen in glomerular basement membranes (2,3). The GBM of males with Alport’s syndrome fails to react with human antiGBM autoantibodies or monoclonal antibodies against the Goodpasture antigen, which is associated with theα[3] chain of type IV collagen (2). Since at least one of the collagen genes (COL11A2) is located within the major histocompatibility complex (MHC) (9), in this study we performed HLA class I and class II antigen typing in a group of unrelated patients with Alport’s syndrome
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