title: Prevalence of DRB1*01 and DRB1*04 alleles in a group of patients with rheumatoid arthritis living in Liguria.
abstract: A major component of genetic susceptibility to rheumatoid arthritis (RA) appears to be explained by inheritance of HLA-DRB1 alleles. Multiple HLA-DRB1 alleles (DRB1*0401, *0404, *0405, *0408, *0101, *102, *1001 and *1402) encoding a shared epitope at amino acid positions 70-74 are associated with susceptibility to RA. There is ethnic variation in the clinical expression of RA and in both the frequency and type of HLA-DRB1 alleles carrying the shared epitope. We evaluated the prevalence of the alleles of HLA-DRB1 locus encoding for SE in 42 outpatients with RA attending the Rheumatology Center of the University of Genoa, Bruzzone Institute, and living in Liguria. A control group was composed of Italian marrow donors. DNA genotyping was performed using a low-resolution polymerase chain reaction technique for characterization of the families of HLA-DRB1 alleles for each of the 42 patients studied. Subsequently, subjects with *01 and *04 haplotype were tested with high-resolution HLA-DRB 1 typing to characterize the *01 and *04 alleles. No statistically significant differences were found in the prevalence of RA-associated single alleles *01 and *04 in the study group or in the control group. In contrast, the sum of susceptibility *04 alleles studied by resolution typing was strongly related to RA in the study group in comparison with the control group.
authors.affiliation: DISEM, University of Genoa, Rheumatology Center, Bruzzone Institute, Genoa, Italy. bruzzone@unige.it
authors.forename: G
authors.initials: G
authors.lastname: Rovetta
authors.forename: P
authors.initials: P
authors.lastname: Monteforte
authors.forename: L
authors.initials: L
authors.lastname: Buffrini
authors.forename: M C
authors.initials: MC
authors.lastname: Grignolo
authors.forename: P
authors.initials: P
authors.lastname: Strada
authors.forename: L
authors.initials: L
authors.lastname: Garbarino
mesh_terms: D000328:Adult; D000368:Aged; D000483:Alleles; D001172:Arthritis, Rheumatoid / Q000453:epidemiology / Q000235:genetics*; D004247:DNA / Q000032:analysis; D005260:Female; D020022:Genetic Predisposition to Disease; D006684:HLA-DR Antigens / Q000235:genetics*; D059811:HLA-DRB1 Chains; D006801:Humans; D007558:Italy / Q000453:epidemiology; D008297:Male; D008875:Middle Aged; D015995:Prevalence
chemical_list: D006684:HLA-DR Antigens; D059811:HLA-DRB1 Chains; C497841:HLA-DRB1*01 antigen; C553505:HLA-DRB1*04:01 antigen; D004247:DNA