Gametic association of HSP70‐1 promoter region alleles and their inclusion in extended HLA haplotypes

Abstract: Gametic associations of a three‐allele polymorphism of the HSP70‐1 promoter region were analyzed in a random North Italian population, in 69 HLA homozygous cell lines and in 29 families in Boston, all typed for HLA class I, class II and complement alleles. Significant phenotypic associations were detected in the random population between HSP70‐1 alleles and several HLA markers carried by extended haplotypes. The inclusion of HSP70‐1 alleles in extended haplotypes, suggested by population analysis, was confirmed in genotyped cells, including 10W HLA homozygous cell lines and families, selected for the presence of the whole set of alleles reported for conserved extended haplotypes. Every tested extended haplotype was exclusively associated with a given HSP70‐1 allele, except those carrying DR1. HSP70‐1 C was included in both [HLA‐B8, SC01, DR3] and [HLA‐B18, F1C30, DR3] extended haplotypes, accounting for the previously observed strong association with DR3. In addition the same allele was found on the [HLA‐B13, SC31, DR7], on the [HLA‐B62, SB42, DR4] and on the [HLA‐B60, SC02, DR13] extended haplotypes. The HSP70‐1 A allele was carried by all DR4+ extended haplotypes except the one above cited. HSP70‐1 B correlated with DR10, DQB1*0501 and BF*F. Thus the HSP70‐1 promoter alleles provide new precisely located markers of extended haplotypes.