RESUMEN
We analyzed 1,900 Turkish Behçet's disease cases and 1,779 controls genotyped with the Immunochip. The most significantly associated SNP was rs1050502, a tag SNP for HLA-B*51. In the Turkish discovery set, we identified three new risk loci, IL1A-IL1B, IRF8, and CEBPB-PTPN1, with genome-wide significance (P < 5 × 10-8) by direct genotyping and ADO-EGR2 by imputation. We replicated the ADO-EGR2, IRF8, and CEBPB-PTPN1 loci by genotyping 969 Iranian cases and 826 controls. Imputed data in 608 Japanese cases and 737 controls further replicated ADO-EGR2 and IRF8, and meta-analysis additionally identified RIPK2 and LACC1. The disease-associated allele of rs4402765, the lead marker at IL1A-IL1B, was associated with both decreased IL-1α and increased IL-1ß production. ABO non-secretor genotypes for two ancestry-specific FUT2 SNPs showed strong disease association (P = 5.89 × 10-15). Our findings extend the list of susceptibility genes shared with Crohn's disease and leprosy and implicate mucosal factors and the innate immune response to microbial exposure in Behçet's disease susceptibility.
Asunto(s)
Síndrome de Behçet/genética , Sitios Genéticos/genética , Predisposición Genética a la Enfermedad/genética , Polimorfismo de Nucleótido Simple/genética , Adulto , Alelos , Estudios de Casos y Controles , Femenino , Estudio de Asociación del Genoma Completo/métodos , Genotipo , Humanos , Irán , Masculino , TurquíaAsunto(s)
Síndrome de Behçet/genética , Homocisteína , Metilenotetrahidrofolato Reductasa (NADPH2)/genética , Polimorfismo Genético/genética , Trombosis de la Vena/genética , Adolescente , Síndrome de Behçet/sangre , Síndrome de Behçet/complicaciones , Homocisteína/sangre , Homocigoto , Humanos , Masculino , Trombosis de la Vena/sangre , Trombosis de la Vena/diagnósticoRESUMEN
There are very few reports of Behetaet's disease from India. Familial aggregation of Behetaet's disease has been reported with restricted geographical distribution. We report here familial Behcet's disease from India in two brothers aged 30 and 32 years. Both patients had recurrent oral and genital ulcers for approximately five years. They also had arthralgias on and off along with fever. Pathergy test was positive in both cases. Their younger brother and a sister had recurrent oral aphthous ulcers.