[HLA markers and complotypes: risk factors in systemic lupus erythematosus?]

Sixteen simplex and two multiplex families of subjects presenting with systemic lupus erythematosus (SLE) were studied and compared with 108 controls. The frequency of A1, B8 and DR3 alleles reported in the literature was not confirmed. Only the DR3 (chi 2 = 5.45, p less than 0.02, RR = 2.53) and CW4 (chi 2 = 6.72, p less than 0.01) alleles, not yet described by other authors, were noted as being associated with SLE. The DR3 C21 BFS C4 AQ0B1 B8 A1 haplotype was not found with statistically significant frequency (chi 2 = 2.55, p = NS). The distribution of haplotypes within the multiplex families confirmed the absence of link between the major histocompatibility complex and systemic lupus erythematosus. Finally, the association of a null allele of complement was confirmed (chi 2 = 5.08, p less than 0.05), but only the C4 BQ0 allele was associated with SLE (chi 2 = 12.27, p less than 0.001, RR = 3.78) instead of the C4 AQ0 allele reported in the literature as being associated with SLE. Some of the CMH alleles are thought to constitute a risk factor of SLE. The presence of silent alleles of complement (C2 Q0, C4 AQ0 and C4 BQ0) seems to play a decisive role in the occurrence and expression of this disease.