MHC class I and class II phenotype, gene, and haplotype frequencies in Greeks using molecular typing data

• Published in: Human immunology Vol. 61; no. 6; pp. 615 - 623
• Main Authors: Papassavas, Emmanouel C., Spyropoulou-Vlachou, Maria, Papassavas, Andreas C., Schipper, Ronald F., Doxiadis, Ilias N., Stavropoulos-Giokas, Catherine
• Format: Journal Article
• Language: English
• Published: United States Elsevier Inc 01.06.2000
• Subjects: Adult; Chi-Square Distribution; delta; DNA Probes, HLA; Female; Gene Frequency; Genes, MHC Class I; Genes, MHC Class II; Greece; Greek Caucasoid; haplotype frequency; Haplotypes - genetics; Hardy-Weinberg equilibrium; Histocompatibility Antigens Class I - genetics; Histocompatibility Antigens Class II - genetics; Histocompatibility Testing; HLA; Humans; linkage disequilibrium; Male; Middle Aged; Phenotype; population genetics; relative delta; Greece; population genetics; df; delta; MHC; P corr; haplotype frequency; MXLK; gene frequency; HW; SE; RD; PF; Hardy-Weinberg equilibrium; relative delta; Greek Caucasoid; HLA; HF; linkage disequilibrium; GF
• ISSN: 0198-8859; 1879-1166
• DOI: 10.1016/S0198-8859(00)00115-4

In the present study, DNA typing for HLA-A, C, B, DRB1, DRB3, DRB4, DRB5, DQA1, DQB1, and DPB1 was performed for 246 healthy, unrelated Greek volunteers of 20-59 years of age. Phenotype, genotype frequencies, Hardy-Weinberg equilibrium fit, and 3-locus haplotype frequencies for HLA-A, C, B, HLA-A, B, DRB1, HLA-DRB1, DQA1, DQB1, and HLA-DRB1, DQB1, DPB1 were calculated. Furthermore, linkage disequilibrium, deltas, relative deltas and p-values for significance of the deltas were defined. The population studied is in Hardy-Weinberg equilibrium, and many MHC haplotypes are in linkage disequilibrium. The most frequent specificities were HLA-A∗02 (phenotype frequency = 44.3%) followed by HLA-A∗24 (27.2%), HLA-B∗51 (28.5%), HLA-B∗18 (26.8%) and HLA-B∗35 (26.4%) and HLA-Cw∗04 (30.1%) and HLA-Cw∗12 (26.8%). The most frequent MHC class II alleles were HLA-DRB1∗1104 (34.1%), HLA-DQB1∗0301 (54.5%) and HLA-DPB1∗0401 with a phenotype frequency of 59.8%. The most prominent HLA-A, C, B haplotypes were HLA-A∗24, Cw∗04, B∗35, and HLA-A∗02, Cw∗04, B∗35, each of them observed in 21/246 individuals. The most frequent HLA-A, B, DRB1 haplotype was HLA-A∗02, B∗18, DRB1∗1104 seen in 20/246 individuals, while the haplotype HLA-DRB1∗1104, DQB1∗0301, DPB1∗0401 was found in 49/246 individuals. Finally, the haplotype DRB1∗1104, DQA1∗0501, DQB1∗0301 was observed in 83/246 individuals. These results can be used for the estimation of the probability of finding a suitable haplotypically identical related or unrelated stem cell donor for patients of Greek ancestry. In addition, they can be used for HLA and disease association studies, genetic distance studies in the Balkan and Mediterranean area, paternity cases, and matching probability calculations for the optimal allocation of kidneys in Greece.