title: MAVS is not a Likely Susceptibility Locus for Addison's Disease and Type 1 Diabetes.
abstract: Mitochondrial antiviral signaling (MAVS) protein is an intracellular adaptor molecule, downstream of viral sensors, retinoid acid-inducible gene I (RIG-I)-like receptors (RLRs). Impaired antiviral cell signaling might contribute to autoimmunity. Studies have recently shown variations in genes encoding RLRs as risk factors for autoimmune diseases. We investigated whether MAVS coding polymorphisms are associated with Addison's disease (AD) and type 1 diabetes (T1D) in Polish population. We genotyped 140 AD, 532 T1D patients and 600 healthy controls for MAVS rs17857295, rs7262903, rs45437096 and rs7269320. Genotyping was performed by TaqMan assays. Distribution of the MAVS genotypes and alleles did not reveal significant differences between patients and controls (p > 0.05). This analysis did not indicate the association of the MAVS locus with susceptibility to AD and T1D.
authors.affiliation: Institute of Human Genetics, Polish Academy of Sciences, Strzeszynska 32, 60-479, Poznan, Poland. zurawek@man.poznan.pl.
authors.forename: Magdalena
authors.initials: M
authors.lastname: Zurawek
authors.affiliation: Institute of Human Genetics, Polish Academy of Sciences, Strzeszynska 32, 60-479, Poznan, Poland.|Department of Endocrinology and Metabolism, Poznan University of Medical Sciences, Poznan, Poland.
authors.forename: Marta
authors.initials: M
authors.lastname: Fichna
authors.affiliation: Institute of Human Genetics, Polish Academy of Sciences, Strzeszynska 32, 60-479, Poznan, Poland.
authors.forename: Marta
authors.initials: M
authors.lastname: Kazimierska
authors.affiliation: Department of Paediatric Diabetes and Obesity, Poznan University of Medical Sciences, Poznan, Poland.
authors.forename: Piotr
authors.initials: P
authors.lastname: Fichna
authors.affiliation: Institute of Human Genetics, Polish Academy of Sciences, Strzeszynska 32, 60-479, Poznan, Poland.
authors.forename: Agnieszka
authors.initials: A
authors.lastname: Dzikiewicz-Krawczyk
authors.affiliation: Institute of Human Genetics, Polish Academy of Sciences, Strzeszynska 32, 60-479, Poznan, Poland.
authors.forename: Grzegorz
authors.initials: G
authors.lastname: Przybylski
authors.affiliation: Department of Endocrinology and Metabolism, Poznan University of Medical Sciences, Poznan, Poland.
authors.forename: Marek
authors.initials: M
authors.lastname: Ruchala
authors.affiliation: Institute of Human Genetics, Polish Academy of Sciences, Strzeszynska 32, 60-479, Poznan, Poland.
authors.forename: Jerzy
authors.initials: J
authors.lastname: Nowak
mesh_terms: D048868:Adaptor Proteins, Signal Transducing / Q000235:genetics*; D000224:Addison Disease / Q000150:complications / Q000235:genetics*; D000328:Adult; D004252:DNA Mutational Analysis; D003922:Diabetes Mellitus, Type 1 / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D011044:Poland; D020641:Polymorphism, Single Nucleotide; D012307:Risk Factors
chemical_list: D048868:Adaptor Proteins, Signal Transducing; C505371:MAVS protein, human
keywords: Addison’s disease; MAVS; Type 1 diabetes; Variants