HLA region microsatellite polymorphisms in juvenile arthritis

Abstract: A number of microsatellite polymorphisms located in the MHC region of the human chromosome 6 have been analysed in a large group of patients with juvenile arthritis (JA) ( n =177) and in 157 controls. There have been no significant associations for the alleles of the microsatellite polymorphisms D6S -105, D6S -510, TNFA, TNFC, TNFD, TNFE, HSP. Allele frequencies and HLA associations were listed for the non-associated micro-satellite loci. The microsatellite locus DQ CAR, which is localized between DQA1 and DQB1, shows a significant positive association with JA for the allele DQ CAR 121 and a negative association for the allele DQ CAR 111. The allele DQ CAR 121 is strongly associated with DQA1*0501 and with DQB1*0301 both in the normal controls and in the patient population. This pair of DQA/DQB alleles corresponds to the DQ molecule DQ7 on the cell surface, which has been described to be strongly associated with JA. Investigations of the two and three-point haplotypes of DQ CAR with alleles of its neighboring loci have shown that the association with DQ CAR 121 is secondary to the association with DQ7 previously observed. Thus, using eight HLA linked microsatellite polymorphisms in the region from HLA-A to HLA-DQ, we have not found any evidence for further loci which might be involved in the coding for susceptibility for JA.