Genetic control of CCL24, POR, and IL23R contributes to the pathogenesis of sarcoidosis.

Sarcoidosis is a genetically complex systemic inflammatory disease that affects multiple organs. We present a GWAS of a Japanese cohort (700 sarcoidosis cases and 886 controls) with replication in independent samples from Japan (931 cases and 1,042 controls) and the Czech Republic (265 cases and 264 controls). We identified three loci outside the HLA complex, CCL24, STYXL1-SRRM3, and C1orf141-IL23R, which showed genome-wide significant associations (P < 5.

A Major Review: Current Aspects of Ocular Behçet's Disease in Japan.

Diagnosis and treatment of Behçet's disease (BD) have continued to undergo new changes in recent years. We organized a Compilation Committee for Guidelines on Diagnosis and Treatment of Ocular Behçet's Disease with five ophthalmology research facilities in Japan (Hokkaido University, Health Sciences University of Hokkaido, University of Tokyo, Tokyo Medical University, and Yokohama City University), and accomplished the Major review of Current aspects of Ocular Behçet's Disease in Japan. The review consist of four chapters: introduction, ocular lesions, diagnosis, and treatment.

Interleukin 1 beta promoter polymorphism is associated with keratoconus in a Japanese population.

Purpose: Polymorphisms in the interleukin 1 alpha (IL1A) and IL1B gene regions were previously associated with keratoconus in a Korean population. In the present study, we investigated whether the IL1A and IL1B polymorphisms are associated with keratoconus in a Japanese population.

Methods: A total of 169 Japanese patients with keratoconus and 390 Japanese healthy controls were recruited.

Genetic characterization and susceptibility for sarcoidosis in Japanese patients: risk factors of BTNL2 gene polymorphisms and HLA class II alleles.

Purpose: Sarcoidosis is a heterogeneous and multisystem granulomatous disorder. The etiology still is uncertain, but the disease currently is thought to be triggered by various genetic as well as environmental factors. Recently, an association between sarcoidosis and the butyrophilin-like 2 (BTNL2) gene located in close proximity to the HLA-DRB1 gene was reported.

Infliximab monotherapy versus infliximab and colchicine combination therapy in patients with Behçet's disease.

Purpose: To compare infliximab monotherapy with infliximab and colchicine combination therapy in Behçet's disease.

Methods: Clinical records of 14 Behçet's disease patients who were administered infliximab with or without colchicine were retrospectively reviewed. Patients who were given other immunosuppresants after initiation of infliximab therapy were excluded.

Clinical Course before and after Cataract and Glaucoma Surgery under Systemic Infliximab Therapy in Patients with Behçet's Disease.

Purpose: Patients with Behçet's disease often need intraocular surgeries for the treatment of secondary cataract or glaucoma. This study aims to report the clinical course before and after the intraocular surgeries of 5 patients who were systematically treated with infliximab.

Methods: Retrospective case series.

Lack of association between toll-like receptor 4 gene polymorphisms and sarcoidosis-related uveitis in Japan.

Purpose: Toll-like receptors (TLRs) are pattern-recognition receptors that play an important role in innate and adaptive immune responses to microbial pathogens. Among TLRs, TLR4 recognizes lipopolysaccharides of Gram-negative bacteria. Genetic polymorphisms within the TLR4 gene have been reported to be associated with various inflammatory diseases; therefore, TLR4 appears to be a susceptibility gene for sarcoidosis.

Evaluation of PTPN22 polymorphisms and Vogt-Koyanagi-Harada disease in Japanese patients.

Purpose: Vogt-Koyanagi-Harada (VKH) disease is an autoimmune disorder against melanocytes. Polymorphisms of the protein tyrosine phosphatase non-receptor 22 gene (PTPN22) have recently been reported to be associated with susceptibility to several autoimmune diseases. In this study, genetic susceptibility to VKH disease was investigated by screening for single nucleotide polymorphisms (SNPs) of PTPN22.

Guidelines for the diagnosis of ocular sarcoidosis.

Purpose: To delineate features of ocular sarcoidosis.

Methods: Comparison of the old and new Japanese guidelines for diagnosing ocular sarcoidosis by review of the medical records of 100 sarcoidosis patients and 147 patients with non-sarcoidosis uveitis.

Results: The overall diagnostic sensitivity and specificity for the old guidelines were 80.

[Case of neurosarcoidosis with rapid visual field defect progression].

Objective: To report a case of neurosarcoidosis with rapid progression of visual field defects.

Case: A 28-year-old woman presented with bilateral uveitis and was diagnosed as having sarcoidosis after skin and cervical lymph node biopsy. Since bilateral excavations of the optic nerve head and visual field defects were observed, endocranial lesion was suspected.

[The reevaluation of categorization for ocular manifestation of sarcoidosis in the "Guidelines for Diagnosis of Ocular Sarcoidosis"].

Purpose: To increase the degree of specificity for nomenclature in the current "Guidelines for Diagnosis of Ocular Sarcoidosis" published in 1990 by the Diffuse Pulmonary Disease Research Committee of Japan.

Subjects And Methods: We reviewed the records of patients with uveitis from the Uveitis Clinic in the Department of Ophthalmology at Yokohama City University. Subjects were selected from the records of uveitis patients with histologically proven sarcoidosis (78), and others with non-sarcoidosis uveitis (81).