Polymorphism of the GLIS3 gene in a Caucasian population and among individuals with carbohydrate metabolism disorders in Russia

Earlier, GLIS3 gene polymorphisms have been shown to be associated with the development of maturity onset diabetes of the young (MODY). We screened GLIS3 gene sequences among patients with MODY to identify probably pathogenic variants by whole-exome sequencing. We estimated frequency of rare single-...

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Bibliographic Details
Published in:BMC research notes 2018-04, Vol.11 (1), p.211-211, Article 211
Main Authors: Shakhtshneider, E V, Mikhailova, S V, Ivanoshchuk, D E, Orlov, P S, Ovsyannikova, A K, Rymar, O D, Ragino, Yu I, Voevoda, M I
Format: Article
Language:English
Subjects:
Antibodies
Carbohydrate metabolism
Carbohydrate metabolism disorders
Diabetes
Diabetes mellitus (non-insulin dependent)
Diabetics
Exome sequencing
Gene expression
Gene frequency
Gene polymorphism
Genetic aspects
Genomes
Genotype & phenotype
GLIS3
Health aspects
Health care
Hepatitis
Informed consent
Maturity onset diabetes of the young
MODY
Mutation
Pancreas
Patients
Polymorphism
Polymorphism (Crystallography)
Research Note
rs143051164
rs806052
Software
Thyroid gland
Type 2 diabetes mellitus
White people
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Summary:Earlier, GLIS3 gene polymorphisms have been shown to be associated with the development of maturity onset diabetes of the young (MODY). We screened GLIS3 gene sequences among patients with MODY to identify probably pathogenic variants by whole-exome sequencing. We estimated frequency of rare single-nucleotide variants in the coding region of GLIS3 in a Caucasian population and among individuals with carbohydrate metabolism disorders in Russia. We identified 15 single-nucleotide variants in GLIS3. Three rare variants (minor allele frequency 
ISSN:1756-0500
1756-0500
DOI:10.1186/s13104-018-3338-1