Abstracts tagged "Behcet’s syndrome and genomics"

Abstract Number: 1611 • 2012 ACR/ARHP Annual Meeting
Targeted Deep Re-Sequencing Implicates Rare and Low Frequency Coding Variants in IL23R, MEFV, TLR4, and NOD2 in Behçet’s Disease
Yohei Kirino¹, Qing Zhou¹, Yoshiaki Ishigatsubo², Nobuhisa Mizuki³, Ilknur Tugal-Tutkun⁴, Emire Seyahi⁵, Yilmaz Ozyazgan⁶, F. Sevgi Sacli⁷, Burak Erer⁸, Zeliha Emrence⁹, Atilla Cakar¹⁰, Duran Ustek¹⁰, Akira Meguro¹¹, Atsuhisa Ueda², Mitsuhiro Takeno², Michael J. Ombrello¹, Colleen Satorius¹², Baishali Maskeri¹³, Jim Mullikin¹³, Hong-Wei Sun¹⁴, Gustavo Gutierrez-Cruz¹⁵, Yoonhee Kim¹⁶, Ahmet Gül¹⁷, Daniel L. Kastner¹² and Elaine F. Remmers¹², ¹Inflammatory Disease Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, ²Department of Internal Medicine and Clinical Immunology, Yokohama City University Graduate School of Medicine, Yokohama, Japan, ³Yokohama City University Graduate School of Medicine, Yokohama, Japan, ⁴Department of Ophthalmology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey, ⁵Rheumatology, Cerrahpasa Faculty of Medicine, Istanbul University, Istanbul, Turkey, ⁶Ophthalmology, Cerrahpasa Faculty of Medicine, Istanbul University, Istanbul, Turkey, ⁷Division of Rheumatology, Cerrahpasa Faculty of Medicine, Istanbul University, Istanbul, Turkey, ⁸Department of Internal Medicine, Rheumatology Division, Istanbul Faculty of Medicine, Istanbul University,, Istanbul, Turkey, ⁹Genetics, Institute for Experimental Medicine, Istanbul University, Istanbul, Turkey, ¹⁰Genetics, Institute of Experimental Medicine, Istanbul University, Istanbul, Turkey, ¹¹Department of Ophthalmology and Visual Science, Yokohama City University Graduate School of Medicine, Yokohama, Japan, ¹²Inflammatory Disease Section, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, ¹³NIH intramural Sequencing Center, National Human Genome Research Institute, National Institutes of Health, Rockville, MD, ¹⁴Biodata Mining and Discovery Section, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD, ¹⁵Genome Analysis Core Facility, Laboratory of Muscle Stem Cells and Gene Regulation, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD, ¹⁶Genometrics section, Inherited Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Baltimore, MD, ¹⁷Department of Internal Medicine, Division of Rheumatology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey
Background/Purpose: Genome-wide association studies (GWAS) have successfully identified common variants that contribute to Behçet’s disease (BD) susceptibility. However, associations due to rare and low-frequency variants…
Abstract Number: 989 • 2012 ACR/ARHP Annual Meeting
Genome-Wide Analysis Reveals a Recessive Association of ERAP1 Variants with Behçet’s Disease and Epistasis Between ERAP1 and HLA-B*51
Elaine F. Remmers¹, Yohei Kirino², George Bertsias², Yoshiaki Ishigatsubo³, Yoonhee Kim⁴, Michael J. Ombrello⁵, Ilknur Tugal-Tutkun⁶, Emire Seyahi⁷, Yilmaz Ozyazgan⁸, F. Sevgi Sacli⁹, Burak Erer¹⁰, Zeliha Emrence¹¹, Atilla Cakar¹¹, Neslihan Abaci¹¹, Duran Ustek¹¹, Colleen Satorius¹, Mitsuhiro Takeno³, Ahmet Gül¹² and Daniel L. Kastner¹, ¹Inflammatory Disease Section, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, ²Inflammatory Disease Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, ³Department of Internal Medicine and Clinical Immunology, Yokohama City University Graduate School of Medicine, Yokohama, Japan, ⁴Genometrics Section, Inherited Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Baltimore, MD, ⁵Translational Genetics and Genomics Unit, National Institute of Arthritis Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD, ⁶Department of Ophthalmology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey, ⁷Rheumatology, Cerrahpasa Faculty of Medicine, Istanbul University, Istanbul, Turkey, ⁸Ophthalmology, Cerrahpasa Faculty of Medicine, Istanbul University, Istanbul, Turkey, ⁹Division of Rheumatology, Cerrahpasa Faculty of Medicine, Istanbul University, Istanbul, Turkey, ¹⁰Department of Internal Medicine, Rheumatology Division, Istanbul University, Istanbul Faculty of Medicine, Istanbul, Turkey, ¹¹Genetics, Institute of Experimental Medicine, Istanbul University, Istanbul, Turkey, ¹²Department of Internal Medicine, Division of Rheumatology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey
Background/Purpose: We recently performed a genome-wide association study in 1215 patients with Behçet’s disease (BD) and 1278 controls from Turkey and found disease-associated variants within…

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