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1.
Rheumatology (Oxford) ; 51(9): 1595-9, 2012 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-22711844

RESUMEN

OBJECTIVE: Behçet's disease (BD) is a multisystemic inflammatory disease, mainly characterized by recurrent oral and genital ulcers (GUs), skin lesions and uveitis. Several genetic factors such as the TNF-α gene have been evaluated as contributors to the pathogenesis of BD. We aimed to evaluate the association between six TNF-α SNPs and susceptibility to BD, or the major clinical manifestations, in Moroccan patients. The six SNPs studied were: c.-1211C>T (rs1799964), c.-1043C>A (rs1800630), c.-1037C>T (rs1799724), c.-556G>A (rs1800750), c.-488G>A (rs1800629) and c.-418G>A (rs361525), known as -1031T>C, -863C>A, -857C>T, -376G>A, 308G>A and -238G>A, respectively. METHODS: SNPs were genotyped by direct sequencing in 120 unrelated Moroccan BD and 112 ethnically matched healthy controls. Allele and genotype distributions were compared between groups using chi-square or Fisher's exact tests. RESULTS: The frequency of the -1211C allele was higher in (i) BD patients than in controls [P = 0.02, odds ratio (OR) = 1.68, 95% CI 1.10, 2.56] and in (ii) patients with GUs than in those without (P = 0.002, OR = 3.84, 95% CI 1.55, 9.49). The -418A frequency was lower in patients with uveitis (P = 0.0003, OR = 0.19, 95% CI 0.07, 0.5). CONCLUSION: We report the first association between BD and TNF-α SNPs in Moroccan patients. We mainly observed that -1211C constitutes a susceptibility allele for both BD and GU, as previously reported for other populations. The -418A allele could be considered as a good prognostic factor for anterior uveitis, in Moroccan BD patients.


Asunto(s)
Síndrome de Behçet/genética , Predisposición Genética a la Enfermedad , Polimorfismo de Nucleótido Simple , Regiones Promotoras Genéticas , Factor de Necrosis Tumoral alfa/genética , Adolescente , Adulto , Síndrome de Behçet/complicaciones , Síndrome de Behçet/diagnóstico , Femenino , Frecuencia de los Genes , Genotipo , Humanos , Masculino , Persona de Mediana Edad , Marruecos , Pronóstico , Uveítis Anterior/diagnóstico , Uveítis Anterior/etiología , Uveítis Anterior/genética , Adulto Joven
2.
Ann Biol Clin (Paris) ; 69(4): 419-24, 2011.
Artículo en Inglés | MEDLINE | ID: mdl-21896406

RESUMEN

Human leukocyte antigen HLA-B51 is the most strongly associated gene with Behçet disease (BD) in different ethnic populations. We analyze the influence of HLA-B alleles in BD predisposition in Moroccan population and its association with clinical manifestations. The HLA-B phenotype frequencies were analyzed by serologic HLA class I typing and by polymerase chain reaction sequence-specific oligonucleotide (PCR-SSO) reverse dot blot hybridization in 120 unrelated Moroccan patients: all of whom fulfilled the international study group criteria for Behçet's disease, and in 112 ethnically matched healthy controls. Besides HLA-B*51 allele (20%), a significant increased frequency of the HLA-B*27 allele was found in Moroccans patients with Behçet's disease when compared to controls (13.3% of patients versus 2.7% of controls, chi square = 8.75, OR = 5.59, 95% IC [1.58-19.75] and particularly in the patients who presented an anterior uveitis (25% vs. 5.5%, p < 0.005).


Asunto(s)
Síndrome de Behçet/genética , Síndrome de Behçet/inmunología , Antígeno HLA-B27/genética , Uveítis Anterior/genética , Uveítis Anterior/inmunología , Adolescente , Adulto , Alelos , Biomarcadores/sangre , Estudios de Casos y Controles , Femenino , Humanos , Masculino , Persona de Mediana Edad , Marruecos , Fenotipo , Reacción en Cadena de la Polimerasa
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