HLA phenotype and haplotype frequencies in Sardinia (Italy)

The gene and haplotype frequencies of the HLA-A, B, Cw, DR and DQ loci were determined in two Sardinian samples from the Nuoro (N = 252) and Sassari (N = 153) districts. Our data were compared with those reported for other Italian, European and Mediterranean populations and previously studied Sardinian samples. The results showed that the two samples differ from other Italian and European populations in the frequencies of many alleles and haplotypes. For example in the A2, B18, Cw5 and DR3 allele frequencies and the A1-B8, A2-B17, A3-B7, A30-B18, A2-Cw7, A30-Cw5, A30-DR3, A32-DR2, Cw5-DR3 and Cw7-DR4 haplotype frequencies. In common with the Mediterranean populations, Sardinians, too, have a limited number of haplotypes with significant linkage disequilibrium. The results revealed, therefore, significant genetic differentiation between Sardinians and other European and Mediterranean populations, confirming the genetic peculiarity of the Sardinians.