Detail Additive and interaction effects at three amino acid positions in HLA-DQ and HLA-DR molecules drive type 1 diabetes risk (from Nature Genetics, 2015) Bibliografi Author: Hu, Xinli ; Deutsch, Aaron J. ; Lenz, Tobias L. ; Onengut-Gumuscu, Suna ; Han, Buhm ; Chen, Wei-Min ; Howson, Joanna M. M. ; Todd, John A. ; de Bakker, Paul I. W. ; Rich, Stephen S. ; Raychaudhuri, Soumya Topik: Amino acid positions; HLA-DQ; HLA-DR; Seminar - Thesis lit Bahasa: (EN )     Penerbit: Nature America, Inc.     Tahun Terbit: 2015     Jenis: Article - diterbitkan di jurnal ilmiah internasional Fulltext: hu2015.pdf (1.35MB; 0 download) Abstract Variation in the human leukocyte antigen (HLA) genes accounts for one-half of the genetic risk in type 1 1 1 diabetes (T1D). Amino acid changes in the HLA-DR and HLA-DQ molecules mediate most of the risk, but extensive linkage disequilibrium complicates the localization of independent effects. Using 1 18,832 case-control samples, we localized the signal to 3 amino acid positions in HLA-DQ and HLA-DR. HLA-DQ?1 1 position 57 (previously known; P = 1 1 1 × 1 10-1,355) by itself explained 1 15.2% of the total phenotypic variance. Independent effects at HLA-DR?1 1 positions 1 13 (P = 1 1 1 × 1 10-721) and 71 1 (P = 1 1 1 × 1 10-95) increased the proportion of variance explained to 26.9%. The three positions together explained 90% of the phenotypic variance in the HLA-DRB1–HLA-DQA1–HLA-DQB1 locus. Additionally, we observed significant interactions for 11 11 11 11 of 21 1 pairs of common HLA-DRB1–HLA-DQA1–HLA-DQB1 haplotypes (P = 1 1.6 × 1 10-64). HLA-DR?1 1 positions 1 13 and 71 1 implicate the P4 pocket in the antigen-binding groove, thus pointing to another critical protein structure for T1D risk, in addition to the HLA-DQ P9 pocket. [seminar - thesis lit] Opini Anda Klik untuk menuliskan opini Anda tentang koleksi ini! Lihat Sejarah Pengadaan  Konversi Metadata   Kembali

Copyright © 2006, 2007 Unika Atma Jaya, all rights reserved