Title |
Characterization of the major histocompatibility complex locus association with Behçet’s disease in Iran
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Published in |
Arthritis Research & Therapy, March 2015
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DOI | 10.1186/s13075-015-0585-6 |
Pubmed ID | |
Authors |
Joana M Xavier, Fereydoun Davatchi, Olga Abade, Farhad Shahram, Vânia Francisco, Bahar Sadeghi Abdollahi, Hélder Trindade, Abdolhadi Nadji, Niloofar Mojarad Shafiee, Fahmida Ghaderibarmi, Dário Ligeiro, Sofia A Oliveira |
Abstract |
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. 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. We found that HLA-B*51 (P = 4.11x10(-41), OR[95%CI] = 4.63[3.66-5.85]) and B*15 confer risk for BD (P = 2.83x10(-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 = 2.51x10(-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 = 1.78x10(-46), OR[95%CI] = 5.46[4.21-7.09], and P adj = 8.34x10(-48), OR[95%CI] = 5.44[4.20-7.05], respectively) in the HLA-B allelotyped subset, while rs2848713 was less associated (P adj = 7.14x10(-35), OR[95%CI] = 3.73[2.97-4.69]) and rs9260997 was not associated (P adj = 1.00x10(-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 (2.31x10(-4) ≤ P ≤ 1.59x10(-3)). 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. |
Mendeley readers
Geographical breakdown
Country | Count | As % |
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Unknown | 19 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
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Researcher | 2 | 11% |
Student > Master | 2 | 11% |
Professor | 2 | 11% |
Student > Bachelor | 2 | 11% |
Student > Doctoral Student | 1 | 5% |
Other | 5 | 26% |
Unknown | 5 | 26% |
Readers by discipline | Count | As % |
---|---|---|
Medicine and Dentistry | 8 | 42% |
Environmental Science | 1 | 5% |
Pharmacology, Toxicology and Pharmaceutical Science | 1 | 5% |
Immunology and Microbiology | 1 | 5% |
Biochemistry, Genetics and Molecular Biology | 1 | 5% |
Other | 2 | 11% |
Unknown | 5 | 26% |