PW03-013 - Behçet's disease: genotype-phenotype correlations

نویسندگان

  • M Takeuchi
  • T Kawagoe
  • A Meguro
  • Y Ishigatsubo
  • E Remmers
  • D Kastner
  • N Mizuki
چکیده

Introduction Although the therapy for Behçet’s disease (BD) has improved since infliximab was approved for refractory retinochoroiditis therapy in Japan, the exact pathogenesis of BD remains unclear. Our recent genome-wide association study has identified the IL10 and IL23RIL12RB2 loci as susceptibility genes for BD, in addition to HLA-A*26 and B*51. rs1495965 is located in the intergenic region between IL23R and IL12RB2 and rs1800872 is located in the promoter region of IL10. IL-10 is an anti-inflammatory cytokine that may have multiple effects in immunoregulation and inflammation. It is thought that regulatory T cell function related to IL-10 is an important factor in the disease pathogenesis.

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

منابع مشابه

PW03-011 – New Behçet's loci and gene-gene interactions

Methods We used the Turkish collection GWAS genotypes to impute genotypes of 779,000 markers in the GWAS subjects and then evaluated the imputed markers for disease association. We also searched for new disease associated loci by analyzing patients with uveitis and by specifying different genetic models. We replicated the new BD loci in additional Turkish samples (838 cases, 630 controls) and i...

متن کامل

PW03-014 - TLR4 and MEFV variants are Behçet's risk factors

Introduction Genome-wide association studies (GWAS) are a powerful means for identifying genes with disease-associated common variants, but they are not well-suited to detect genes with disease-associated rare or low-frequency variants. It has long been debated whether the innate immune system is involved in the pathogenesis of Behçet’s disease (BD) but genetic evidence to support this hypothes...

متن کامل

Replication of a microsatellite genome-wide association study of Behcet's disease in a Korean population.

OBJECTIVE Behçet's disease is one of the major aetiologies of uveitis causing blindness in Asian countries. A genome-wide association study identified six microsatellite markers as disease susceptibility loci for Japanese patients with Behçet's disease. To confirm our recent results, these microsatellite markers were examined in a Korean population as a replication study. METHODS Study partic...

متن کامل

Genetic Heterogeneity of PKD1 and PKD2 Genes in Iran and Determination of the Genotype/Phenotype Correlations in Several Families with Autosomal Dominant Polycystic Kidney Disease

Autosomal dominant polycystic kidney disease (ADPKD) is the most common genetic nephropathy, which is characterized by replacement of renal parenchyma with multiple cysts. In Iran, the disease prevalence within the chronic hemodialysis patient population is approximately 8-10%. So far, three genetic loci have been identified to be responsible for ADPKD. Little information is available concernin...

متن کامل

IκBα Promoter Polymorphisms in Patients with Behçet’s Disease

To investigate the role of IkappaBalpha promoter polymorphisms in the development of Behçet's disease, eighty-six patients with Behçet's disease and 120 healthy controls were enrolled in this study. The IkappaBalpha -881A/G, -826C/T, -550A/T, -519C/T, and -297C/T polymorphisms were measured by the method of polymerase chain reaction/ restriction fragment length polymorphism. This study demonstr...

متن کامل

ذخیره در منابع من


  با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

عنوان ژورنال:

دوره 11  شماره 

صفحات  -

تاریخ انتشار 2013