Detail Common variants in the HLA-DQ region confer susceptibility to idiopathic achalasia (from Nature Genetics, 2014) Bibliografi Author: Gockel, Ines ; Becker, Jessica ; Wouters, Mira M. ; Niebisch, Stefan ; Gockel, Henning R. ; Hess, Timo ; Ramonet, David ; Zimmermann, Julian ; Vigo, Ana Gonzalez ; Trynka, Gosia ; Leon, Antonio Ruiz de ; Serna, Julio Perez de la ; Urcelay, Elena ; Kumar, Vinod ; Franke, Lude ; Westra, Harm-Jan ; Drescher, Daniel ; Kneist, Werner Topik: HLA-DQ; Idiopathic achalasia; Seminar - Thesis lit Bahasa: (EN )     Penerbit: Nature America, Inc.     Tahun Terbit: 2014     Jenis: Article - diterbitkan di jurnal ilmiah internasional Fulltext: gockel2014.pdf (470.54KB; 0 download) Abstract Idiopathic achalasia is characterized by a failure of the lower esophageal sphincter to relax due to a loss of neurons in the myenteric plexus1,2. This ultimately leads to massive dilatation and an irreversibly impaired megaesophagus. We performed a genetic association study in 1 1,068 achalasia cases and 4,242 controls and fine-mapped a strong MHC association signal by imputing classical HLA haplotypes and amino acid polymorphisms. An eight-residue insertion at position 227–234 in the cytoplasmic tail of HLA-DQb1 1 (encoded by HLA-DQB1*05:03 and HLA-DQB1*06:01) confers the strongest risk for achalasia (P = 1 1.73 × 1 10-19). In addition, two amino acid substitutions in the extracellular domain of HLA-DQa1 1 at position 41 1 (lysine encoded by HLA-DQA1*01:03; P = 5.60 × 1 10-10) and of HLA-DQb1 at position 45 (glutamic acid encoded by HLA-DQB1*03:01 and HLA-DQB1*03:04; P = 1 1.20 × 1 10-9) independently confer achalasia risk. Our study implies that immune-mediated processes are involved in the pathophysiology of achalasia. [seminar - thesis lit] Opini Anda Klik untuk menuliskan opini Anda tentang koleksi ini! Lihat Sejarah Pengadaan  Konversi Metadata   Kembali

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