PMID- 22342872 OWN - NLM STAT- MEDLINE DCOM- 20120727 LR - 20221207 IS - 1879-1166 (Electronic) IS - 0198-8859 (Linking) VI - 73 IP - 4 DP - 2012 Apr TI - Estimation of human leukocyte antigen class I and class II high-resolution allele and haplotype frequencies in the Italian population and comparison with other European populations. PG - 399-404 LID - 10.1016/j.humimm.2012.01.005 [doi] AB - The high-resolution (HR) allele and haplotype frequencies of class I and II human leukocyte antigen (HLA) system were determined in the Italian population from a sample of donors recruited in the Italian Bone Marrow Donor Registry (IBMDR). This study analyzed the HLA-A, -B, -C, -DRB1, and -DQB1 loci. Two different samples were used: donors HR typed at least for one allele, usually when selected for donor-recipient matching (respectively: 3596, 7591, 4715, 57345, and 8196), to make a list of the observed alleles and determine the relative frequencies of the alleles in each class of the corresponding antigen; donors HR randomly typed for both the alleles (respectively: 975, 1643, 1569, 22114, and 2087) to estimate the allele and haplotype frequencies, and two loci linkage disequilibrium. The number of alleles showing a frequency >1% on the total number of observed alleles are 18/75 HLA-A, 28/142 -B, 17/57 -C, 23/154 -DRB1, and 13/31 -DQB1. In each locus they account for more than 88% of the total cumulative frequencies. The most frequent alleles are A*02: 01, B*35: 01, C*04:01, DRB1*07:01, DQB1*03:01. The most frequent five-locus haplotype in the 338 donors randomly typed is A*01: 01-C*07:01-B*08: 01-DRB1*03:01-DQB1*02:01. The genetic comparison of the Italian population with 16 European populations shows a south-north gradient. CI - Copyright (c) 2012 American Society for Histocompatibility and Immunogenetics. Published by Elsevier Inc. All rights reserved. FAU - Rendine, Sabina AU - Rendine S AD - AOUSG Battista, Transplant Immunology Service, Torino, Italy. FAU - Ferrero, Norma Maria AU - Ferrero NM FAU - Sacchi, Nicoletta AU - Sacchi N FAU - Costa, Cristina AU - Costa C FAU - Pollichieni, Simona AU - Pollichieni S FAU - Amoroso, Antonio AU - Amoroso A LA - eng PT - Journal Article PT - Research Support, Non-U.S. Gov't DEP - 20120201 PL - United States TA - Hum Immunol JT - Human immunology JID - 8010936 RN - 0 (Histocompatibility Antigens Class I) RN - 0 (Histocompatibility Antigens Class II) SB - IM MH - *Alleles MH - *Gene Frequency MH - *Haplotypes MH - Histocompatibility Antigens Class I/*genetics MH - Histocompatibility Antigens Class II/*genetics MH - Humans MH - Italy/ethnology MH - Linkage Disequilibrium MH - White People/genetics EDAT- 2012/02/22 06:00 MHDA- 2012/07/28 06:00 CRDT- 2012/02/21 06:00 PHST- 2011/08/02 00:00 [received] PHST- 2011/12/22 00:00 [revised] PHST- 2012/01/24 00:00 [accepted] PHST- 2012/02/21 06:00 [entrez] PHST- 2012/02/22 06:00 [pubmed] PHST- 2012/07/28 06:00 [medline] AID - S0198-8859(12)00015-8 [pii] AID - 10.1016/j.humimm.2012.01.005 [doi] PST - ppublish SO - Hum Immunol. 2012 Apr;73(4):399-404. doi: 10.1016/j.humimm.2012.01.005. Epub 2012 Feb 1.