IMMUNOGENETICS OF HENOCH–SCHOENLEIN DISEASE
Source: European Journal of Immunogenetics, Volume 24, Number 5, October 1997 , pp. 323-333(11)
Abstract:In order to investigate the genetic basis of susceptibility to Henoch–Schoenlein purpura (HS), blood samples of 152 patients, 105 of whom had renal disease, were collected in a two-step study. The evaluation of DRB, DQB and DQA polymorphism was done by analysis of the restriction polymorphisms produced by TaqI enzyme. DRB1*07 was less frequent in patients than in the control group (gene frequency 0.09 and 0.18, respectively; P = 0.0023), whereas 64% of the patients were positive for DRB1*01 and/or DRB1*11 compared with 48% of the control group (P = 0.0069). Polymerase chain reaction–sequence-specific oligonucleotide (PCR-SSO) typing of DRB1*01- and DRB1*11-positive individuals did not show any deviation of frequencies of DRB1*01 subtypes between patients and controls, whereas among DRB1*11 subtypes DRB1*1104 was significantly increased in the patients (Pc = 0.033). The comparison between patients with renal disease and those without renal disease showed no significant differences in the frequency of the single DRB, DQB and DQA alleles. The study of restriction polymorphisms in the switch region of the constant genes α1, α2 and μ of the heavy chains of immunoglobulins, using the enzyme Sacl and a specific probe, did not show any difference between 44 patients and 54 controls. This study demonstrates that susceptibility to HS also has a genetic origin: on one hand, the presence of DRB1*01 or DRB1*11 makes disease onset easier; on the other hand, DRB1*07 could induce some resistance to the disease. It is suggested that, as well as for other diseases caused by an impaired immune response, single amino acids in a key position in the HLA-DRB molecule make it more or less easy to recognize some antigenic peptide, towards which an immune response leading to disease is triggered.
Document Type: Original Article
Affiliations: 1: Transplant Immunology Service, S. Giovanni Hospital, Torino, and , 2: Department of Genetics, Biology and Medical Chemistry, University of Torino, Torino, , 3: Department of Nephrology, Paediatrics Hospital ‘Regina Margherita’, Torino, , 4: Centre CNR of Immunogenetics and Experimental Oncology (CIOS), Torino, , 5: Department of Nephrology, University and ‘Spedali Civili’, Brescia, Italy
Publication date: October 1, 1997