title: HLA-DQB1 genotype in Sardinian multiple sclerosis: evidence for a key role of DQB1 *0201 and *0302 alleles.
abstract: We studied HLA-DQB1 haplotypes in 103 unrelated multiple sclerosis (UMS) patients and in 26 related (RMS) patients from 12 families from Sardinia, Italy, where the disease was associated with the HLA-DR4 allele. Using polymerase chain reaction and allele-specific oligonucleotide probes, we found in UMS an increased frequency of the DQB1 *0201 (p = 0.010) and DQB1 *0302 (p = 0.025) alleles, whereas the DQB1 *0301 allele was significantly decreased (p = 0.027). In RMS, only the DQB1 *0302 allele was increased (p = 0.047), and no difference was found in the DQB1 *0301 allele. For DQB haplotypes, an increased frequency of DQB1 *0302/*0502 (p = 0.026) and a decreased frequency of DQB1 *0201/*0601 (p = 0.009) and DQB1 *0502/*0502 (p = 0.025) was found in UMS patients, whereas RMS patients showed an increased frequency of DQB1 *0301/*0302 (p = 0.005). Because DQB1 *0201 and *0302 alleles are increased in Caucasian MS patients, where the disease is related to HLA-DR2 and where a primary association with the HLA-DR2, DQB1 *0602 allele has been reported, we conclude that Caucasian and Sardinian populations share HLA-DQB1 *0201 and *0302 alleles in genetic susceptibility to MS.
authors.affiliation: Istituto di Neuropsichiatria Infantile, Università di Cagliari, Italy.
authors.forename: M G
authors.initials: MG
authors.lastname: Marrosu
authors.forename: F
authors.initials: F
authors.lastname: Muntoni
authors.forename: M R
authors.initials: MR
authors.lastname: Murru
authors.forename: G
authors.initials: G
authors.lastname: Costa
authors.forename: M P
authors.initials: MP
authors.lastname: Pischedda
authors.forename: M
authors.initials: M
authors.lastname: Pirastu
authors.forename: S
authors.initials: S
authors.lastname: Sotgiu
authors.forename: G
authors.initials: G
authors.lastname: Rosati
authors.forename: C
authors.initials: C
authors.lastname: Cianchetti
mesh_terms: D000483:Alleles; D005260:Female; D005838:Genotype; D006683:HLA-DQ Antigens / Q000235:genetics*; D059866:HLA-DQ beta-Chains; D006239:Haplotypes; D006801:Humans; D007558:Italy; D008297:Male; D009103:Multiple Sclerosis / Q000235:genetics*
chemical_list: D006683:HLA-DQ Antigens; D059866:HLA-DQ beta-Chains; C069051:HLA-DQB1 antigen