PMID- 20974205 OWN - NLM STAT- MEDLINE DCOM- 20110629 LR - 20221207 IS - 1879-1166 (Electronic) IS - 0198-8859 (Print) IS - 0198-8859 (Linking) VI - 72 IP - 2 DP - 2011 Feb TI - Human leukocyte antigen-A, -B, -C, -DRB1 allele and haplotype frequencies in Americans originating from southern Europe: contrasting patterns of population differentiation between Italian and Spanish Americans. PG - 144-9 LID - 10.1016/j.humimm.2010.10.017 [doi] AB - High-resolution DNA sequencing was used to identify the human leukocyte antigen (HLA) -A, -B, -C, and -DRB1 alleles found in 552 individuals from the United States indicating Southern European (Italian or Spanish) heritage. A total of 46 HLA-A, 80 HLA-B, 32 HLA-C, and 50 DRB1 alleles were identified. Frequent alleles included A*02:01:01G (allele frequency = 0.26 in Italian Americans and 0.22 in Spanish Americans); B*07:02:01G (Italian Americans allele frequency = 0.11); B*44:03 (Spanish Americans allele frequency = 0.07); C*04:01:01G and C*07:01:01G (allele frequency = 0.13 and 0.16, respectively, in Italian Americans; 0.15 and 0.12, respectively, in Spanish Americans); and DRB1*07:01:01 (allele frequency = 0.12 in each population). The action of balancing selection was inferred at the HLA-B and -C loci in both populations. The A*01:01:01G-C*07:01:01G-B*08:01:01G-DRB1*03:01:01 haplotype was the most frequent A-C-B-DRB1 haplotype in Italian Americans (haplotype frequency = 0.049), and was the second most frequent haplotype in Spanish Americans (haplotype frequency = 0.021). A*29:02:01-C*16:01:01-B*44:03-DRB1*07:01:01 was the most frequent A-C-B-DRB1 in Spanish Americans (haplotype frequency = 0.023), and was observed at a frequency of 0.015 in Italian Americans. Pairwise F'(st) values measuring the degree of differentiation between these Southern European American populations as well as European and European American populations suggest that Spanish Americans constitute a distinct subset of the European American population, most similar to Mexican Americans, whereas Italian Americans cannot be distinguished from the larger European American population. CI - Copyright A(c) 2011 American Society for Histocompatibility and Immunogenetics. Published by Elsevier Inc. All rights reserved. FAU - Mack, Steven J AU - Mack SJ AD - Children's Hospital Oakland Research Institute, Oakland, California, USA. sjmack@chori.org FAU - Tu, Bin AU - Tu B FAU - Yang, Ruyan AU - Yang R FAU - Masaberg, Carly AU - Masaberg C FAU - Ng, Jennifer AU - Ng J FAU - Hurley, Carolyn Katovich AU - Hurley CK LA - eng GR - U01 AI067068/AI/NIAID NIH HHS/United States GR - U01 AI067068-05/AI/NIAID NIH HHS/United States GR - U01 AI067068-05S1/AI/NIAID NIH HHS/United States GR - U01AI067068/AI/NIAID NIH HHS/United States PT - Journal Article PT - Research Support, N.I.H., Extramural PT - Research Support, U.S. Gov't, Non-P.H.S. DEP - 20101023 PL - United States TA - Hum Immunol JT - Human immunology JID - 8010936 RN - 0 (DRB1*01:02:03 antigen) RN - 0 (HLA-A Antigens) RN - 0 (HLA-B Antigens) RN - 0 (HLA-C Antigens) RN - 0 (HLA-DR Antigens) RN - 0 (HLA-DRB1 Chains) SB - IM MH - Alleles MH - Gene Frequency/*genetics MH - Genetics, Population MH - HLA-A Antigens/*genetics/immunology MH - HLA-B Antigens/*genetics/immunology MH - HLA-C Antigens/*genetics/immunology MH - HLA-DR Antigens/*genetics/immunology MH - HLA-DRB1 Chains MH - Haplotypes/*genetics MH - Hispanic or Latino MH - Homozygote MH - Humans MH - Italy/ethnology MH - Leukocytes/immunology MH - Linkage Disequilibrium/genetics/immunology MH - Registries MH - Sequence Analysis, DNA MH - United States/epidemiology MH - White People PMC - PMC3045865 MID - NIHMS246688 EDAT- 2010/10/27 06:00 MHDA- 2011/06/30 06:00 PMCR- 2011/08/01 CRDT- 2010/10/27 06:00 PHST- 2010/03/13 00:00 [received] PHST- 2010/10/03 00:00 [revised] PHST- 2010/10/19 00:00 [accepted] PHST- 2010/10/27 06:00 [entrez] PHST- 2010/10/27 06:00 [pubmed] PHST- 2011/06/30 06:00 [medline] PHST- 2011/08/01 00:00 [pmc-release] AID - S0198-8859(10)00531-8 [pii] AID - 10.1016/j.humimm.2010.10.017 [doi] PST - ppublish SO - Hum Immunol. 2011 Feb;72(2):144-9. doi: 10.1016/j.humimm.2010.10.017. Epub 2010 Oct 23.