Motifs of Three HLA-DQ Amino Acid Residues (α44, β57, β135) Capture Full Association With the Risk of Type 1 Diabetes in DQ2 and DQ8 Children

• Published in: Diabetes (New York, N.Y.) Vol. 69; no. 7; pp. 1573 - 1587
• Main Authors: Zhao, Lue Ping, Papadopoulos, George K., Kwok, William W., Moustakas, Antonis K., Bondinas, George P., Larsson, Helena Elding, Ludvigsson, Johnny, Marcus, Claude, Samuelsson, Ulf, Wang, Ruihan, Pyo, Chul-Woo, Nelson, Wyatt C., Geraghty, Daniel E., Lernmark, Åke
• Format: Journal Article
• Language: English
• Published: United States American Diabetes Association 01.07.2020
• Subjects: Adolescent; Amino Acid Motifs; Amino acids; Association analysis; Autoantibodies; CD4 antigen; Child; Child, Preschool; Clinical Medicine; Diabetes; Diabetes mellitus (insulin dependent); Diabetes Mellitus, Type 1 - etiology; Diabetes Mellitus, Type 1 - genetics; Diabetes Mellitus, Type 1 - immunology; DQA1 protein; Endocrinology and Diabetes; Endokrinologi och diabetes; Genetic Predisposition to Disease; Genetics/Genomes/Proteomics/Metabolomics; Haplotypes; Histocompatibility antigen HLA; HLA-DQ alpha-Chains - genetics; HLA-DQ Antigens - chemistry; HLA-DQ Antigens - genetics; Humans; Infant; Klinisk medicin; Linkage disequilibrium; Lymphocytes T; Medical and Health Sciences; Medicin och hälsovetenskap; Risk; T cell receptors

HLA-DQA1 and -DQB1 are strongly associated with type 1 diabetes (T1D), and DQ8.1 and DQ2.5 are major risk haplotypes. Next-generation targeted sequencing of HLA-DQA1 and -DQB1 in Swedish newly diagnosed 1- to 18 year-old patients (n = 962) and control subjects (n = 636) was used to construct abbrevi...