PMID- 24498993 OWN - NLM STAT- MEDLINE DCOM- 20141010 LR - 20220419 IS - 1399-0039 (Electronic) IS - 0001-2815 (Linking) VI - 82 IP - 6 DP - 2013 Dec TI - HLA alleles and HLA-B27 haplotypes associated with susceptibility and severity of ankylosing spondylitis in a Portuguese population. PG - 374-9 LID - 10.1111/tan.12238 [doi] AB - Human leukocyte antigen (HLA)-B27 is the mostly known major histocompatibility complex (MHC) gene associated with ankylosing spondylitis (AS). Nonetheless, there is substantial evidence that other MHC genes appear to be associated with the disease, although it has not yet been established whether these associations are driven by direct associations or by linkage disequilibrium (LD) mechanisms. We aimed to investigate the contributions of HLA class I and II alleles and B27-haplotypes for AS in a case-control study. A total of 188 HLA-B27 AS cases and 189 HLA-B27 healthy controls were selected and typed for HLA class I and II by the Luminex polymerase chain reaction-sequence specific oligonucleotide probe (PCR-SSOP) method. Allelic and haplotypic distributions were estimated by maximum likelihood method using Arlequin v3.11 and statistical analysis were performed by Stata10.1. No associations were found between non-HLA-B27 loci and AS susceptibility, but several associations were observed for phenotypic features of the disease. DRB1*08 was identified as a risk factor for uveitis and DQB1*04 seems to provide protection for AS severity (functional, metrological and radiological indexes). A*02/B27/C*02/DRB1*01/DQB1*05 [P<0.0001; odds ratio (OR) = 39.06; 95% confidence interval (CI) (2.34-651)] is the only haplotype that seems to confer susceptibility to AS. Moreover, the haplotype A*02/B27/C*01/DRB1*08/DQB1*04 seems to provide protection for disease functional and radiological repercussions. Our findings are compatible with the hypothesis that other genes within the HLA region besides HLA-B27 might play some role in AS susceptibility and severity. CI - (c) 2013 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd. FAU - Pimentel-Santos, F M AU - Pimentel-Santos FM AD - CEDOC, Faculdade de Ciencias Medicas da Universidade Nova de Lisboa, Lisbon, Portugal; Centro Hospitalar Lisboa Ocidental (CHLO), Hospital de Egas Moniz, EPE, Lisbon, Portugal. FAU - Matos, M AU - Matos M FAU - Ligeiro, D AU - Ligeiro D FAU - Mourao, A F AU - Mourao AF FAU - Ribeiro, C AU - Ribeiro C FAU - Costa, J AU - Costa J FAU - Santos, H AU - Santos H FAU - Barcelos, A AU - Barcelos A FAU - Pinto, P AU - Pinto P FAU - Cruz, M AU - Cruz M FAU - Sousa, E AU - Sousa E FAU - Santos, R A AU - Santos RA FAU - Fonseca, J E AU - Fonseca JE FAU - Trindade, H AU - Trindade H FAU - Guedes-Pinto, H AU - Guedes-Pinto H FAU - Branco, J C AU - Branco JC CN - CORPOREA Study Group LA - eng PT - Journal Article PT - Research Support, Non-U.S. Gov't PL - England TA - Tissue Antigens JT - Tissue antigens JID - 0331072 RN - 0 (HLA-A*02 antigen) RN - 0 (HLA-A2 Antigen) RN - 0 (HLA-B27 Antigen) RN - 0 (HLA-DRB1 Chains) RN - 0 (HLA-DRB1*04 antigen) RN - 0 (HLA-DRB1*08:01 antigen) SB - IM MH - Adult MH - Aged MH - Disease Progression MH - Female MH - Gene Frequency MH - Genetic Association Studies MH - *Genetic Predisposition to Disease MH - HLA-A2 Antigen/genetics MH - HLA-B27 Antigen/*genetics MH - HLA-DRB1 Chains/genetics MH - Haplotypes MH - Histocompatibility Testing MH - Humans MH - Male MH - Middle Aged MH - Polymorphism, Genetic MH - Portugal MH - Spondylitis, Ankylosing/*genetics/*immunology MH - Young Adult OTO - NOTNLM OT - B27-haplotypes OT - HLA alleles OT - HLA class I and II OT - ankylosing spondylitis OT - phenotypic features FIR - Mourao, A F IR - Mourao AF FIR - de Matos, A A IR - de Matos AA FIR - Ribeiro, C IR - Ribeiro C FIR - Pimentel-Santos, F M IR - Pimentel-Santos FM FIR - Pimentao Bravo, J IR - Pimentao Bravo J FIR - Branco, J C IR - Branco JC FIR - Mateus, M IR - Mateus M FIR - Nero, P IR - Nero P FIR - Araujo, P IR - Araujo P FIR - Falcao, S IR - Falcao S FIR - Pinto, T L IR - Pinto TL FIR - Castelao, W IR - Castelao W FIR - Vieira de Sousa, E IR - Vieira de Sousa E FIR - Caetano-Lopes, J IR - Caetano-Lopes J FIR - Fonseca, J E IR - Fonseca JE FIR - Silva, C IR - Silva C FIR - Simoes, E IR - Simoes E FIR - Madeira, H IR - Madeira H FIR - Santos, H IR - Santos H FIR - Vaz Patto, J IR - Vaz Patto J FIR - Ferreira, J IR - Ferreira J FIR - Micaelo, M IR - Micaelo M FIR - Mediavilla, M J IR - Mediavilla MJ FIR - Sousa, M IR - Sousa M FIR - Soares Branco, P IR - Soares Branco P FIR - Godinho, F IR - Godinho F FIR - Canas da Silva, J IR - Canas da Silva J FIR - Garces, S IR - Garces S FIR - Tavares, V IR - Tavares V FIR - Ribeiro, A IR - Ribeiro A FIR - Araujo, D IR - Araujo D FIR - Costa, J A IR - Costa JA FIR - Costa, L IR - Costa L FIR - Afonso, M C IR - Afonso MC FIR - Bogas, M IR - Bogas M FIR - Alcino, S IR - Alcino S FIR - Pinto, P IR - Pinto P FIR - Cravo, A R IR - Cravo AR FIR - Sequeira, G IR - Sequeira G FIR - Santos, R A IR - Santos RA FIR - Barcelos, A IR - Barcelos A FIR - Cunha, I IR - Cunha I FIR - Cruz, M IR - Cruz M EDAT- 2014/02/07 06:00 MHDA- 2014/10/11 06:00 CRDT- 2014/02/07 06:00 PHST- 2013/07/06 00:00 [received] PHST- 2013/09/11 00:00 [revised] PHST- 2013/10/09 00:00 [accepted] PHST- 2014/02/07 06:00 [entrez] PHST- 2014/02/07 06:00 [pubmed] PHST- 2014/10/11 06:00 [medline] AID - 10.1111/tan.12238 [doi] PST - ppublish SO - Tissue Antigens. 2013 Dec;82(6):374-9. doi: 10.1111/tan.12238.