Characterization of the major histocompatibility complex locus association with Behçet's disease in Iran.

Autor: Xavier JM; Instituto de Medicina Molecular, Faculdade de Medicina, Universidade de Lisboa, Avenida Professor Egas Moniz, Edifício Egas Moniz, 1649-028, Lisboa, Portugal. jxavier@fm.ul.pt.; Instituto Gulbenkian de Ciência, Oeiras, Portugal. jxavier@fm.ul.pt., Davatchi F; Rheumatology Research Center, Tehran University of Medical Sciences, Tehran, Iran. fddh@neda.net., Abade O; Lisbon Center for Blood and Transplantation, Instituto Português de Sangue e Transplantação, Lisboa, IP, Portugal. olga.abade@ipst.min-saude.pt., Shahram F; Rheumatology Research Center, Tehran University of Medical Sciences, Tehran, Iran. shahram@neda.net., Francisco V; Instituto de Medicina Molecular, Faculdade de Medicina, Universidade de Lisboa, Avenida Professor Egas Moniz, Edifício Egas Moniz, 1649-028, Lisboa, Portugal. vfrancisco@medicina.ulisboa.pt.; Instituto Gulbenkian de Ciência, Oeiras, Portugal. vfrancisco@medicina.ulisboa.pt., Abdollahi BS; Rheumatology Research Center, Tehran University of Medical Sciences, Tehran, Iran. bahar@bahars.net., Trindade H; Lisbon Center for Blood and Transplantation, Instituto Português de Sangue e Transplantação, Lisboa, IP, Portugal. helder.trindade@ipst.min-saude.pt., Nadji A; Rheumatology Research Center, Tehran University of Medical Sciences, Tehran, Iran. naji_rrc@yahoo.com., Shafiee NM; Rheumatology Research Center, Tehran University of Medical Sciences, Tehran, Iran. n.mshafiee@yahoo.com., Ghaderibarmi F; Rheumatology Research Center, Tehran University of Medical Sciences, Tehran, Iran. famida_gh@yahoo.com., Ligeiro D; Lisbon Center for Blood and Transplantation, Instituto Português de Sangue e Transplantação, Lisboa, IP, Portugal. dario@ipst.min-saude.pt., Oliveira SA; Instituto de Medicina Molecular, Faculdade de Medicina, Universidade de Lisboa, Avenida Professor Egas Moniz, Edifício Egas Moniz, 1649-028, Lisboa, Portugal. aaoliveira@medicina.ulisboa.pt.; Instituto Gulbenkian de Ciência, Oeiras, Portugal. aaoliveira@medicina.ulisboa.pt.
Jazyk: angličtina
Zdroj: Arthritis research & therapy [Arthritis Res Ther] 2015 Mar 19; Vol. 17, pp. 81. Date of Electronic Publication: 2015 Mar 19.
DOI: 10.1186/s13075-015-0585-6
Abstrakt: Introduction: The aim of this study was to characterize the association of human leukocyte antigen (HLA) B alleles and major histocompatibility complex (MHC) single nucleotide polymorphisms (SNPs) with Behçet's disease (BD) in an Iranian dataset.
Methods: The association of three SNPs in the MHC region previously identified as the most associated in high-density genotyping studies was tested in a case-control study on 973 BD patients and 825 controls from Iran, and the association of HLA-B alleles was tested in a subset of 681 patients and 414 controls.
Results: We found that HLA-B*51 (P = 4.11 × 10(-41), OR [95% CI] = 4.63[3.66-5.85]) and B*15 confer risk for BD (P = 2.83 × 10(-2), OR [95% CI] = 1.75[1.08-2.84]) in Iranian, and in B*51 negative individuals, only the B*15 allele is significantly associated with BD (P = 2.51 × 10(-3), OR [95% CI] = 2.40[1.37-4.20]). rs76546355, formerly known as rs116799036, located between HLA-B and MICA (MHC class I polypeptide-related sequence A), demonstrated the same level of association with BD as HLA-B*51 (P adj = 1.78 × 10(-46), OR [95% CI] = 5.46[4.21-7.09], and P adj = 8.34 × 10(-48), OR [95% CI] = 5.44[4.20-7.05], respectively) in the HLA-B allelotyped subset, while rs2848713 was less associated (P adj = 7.14 × 10(-35), OR [95% CI] = 3.73[2.97-4.69]) and rs9260997 was not associated (P adj = 1.00 × 10(-1)). Additionally, we found that B*51 genotype-phenotype correlations do not survive Bonferroni correction, while carriers of the rs76546355 risk allele predominate in BD cases with genital ulcers, positive pathergy test and positive BD family history (2.31 × 10(-4) ≤ P ≤ 1.59 × 10(-3)).
Conclusions: We found that the HLA-B*51 allele and the rs76546355/rs116799036 MHC SNP are independent genetic risk factors for BD in Iranian, and that positivity for the rs76546355/rs116799036 risk allele, but not for B*51, does correlate with specific demographic characteristics or clinical manifestations in BD patients.
Databáze: MEDLINE
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