TY - JOUR

T1 - Polymorphism of the GLIS3 gene in a Caucasian population and among individuals with carbohydrate metabolism disorders in Russia

AU - Shakhtshneider, E. V.

AU - Mikhailova, S. V.

AU - Ivanoshchuk, D. E.

AU - Orlov, P. S.

AU - Ovsyannikova, A. K.

AU - Rymar, O. D.

AU - Ragino, Yu I.

AU - Voevoda, M. I.

N1 - Publisher Copyright: © 2018 The Author(s).

PY - 2018/4/2

Y1 - 2018/4/2

N2 - Objective: 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. Results: We identified 15 single-nucleotide variants in GLIS3. Three rare variants (minor allele frequency < 1%) rs806052, rs143051164, and rs149840771 were genotyped in 126 cases of MODY, in 188 patients with type 2 diabetes mellitus (DM2), and 564 randomly selected Caucasian individuals in Russia. A heterozygous rs806052 variant was identified in one patient with DM2; c.1270T frequency was 0.003. Prevalence of rs143051164 c.844G was 0.003 in the control population and 0.004 and 0.003 in MODY and DM2 samples, respectively. Prevalence of rs149840771 c.2096A was 0.003 and 0.004 in the control population and among MODY patients, respectively. In DM2 patients, rs149840771 c.2096A was not identified. We did not detect any associations of rs806052, rs143051164, and rs149840771 with carbohydrate metabolism disorders among patients with MODY and DM2 in Russia.

AB - Objective: 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. Results: We identified 15 single-nucleotide variants in GLIS3. Three rare variants (minor allele frequency < 1%) rs806052, rs143051164, and rs149840771 were genotyped in 126 cases of MODY, in 188 patients with type 2 diabetes mellitus (DM2), and 564 randomly selected Caucasian individuals in Russia. A heterozygous rs806052 variant was identified in one patient with DM2; c.1270T frequency was 0.003. Prevalence of rs143051164 c.844G was 0.003 in the control population and 0.004 and 0.003 in MODY and DM2 samples, respectively. Prevalence of rs149840771 c.2096A was 0.003 and 0.004 in the control population and among MODY patients, respectively. In DM2 patients, rs149840771 c.2096A was not identified. We did not detect any associations of rs806052, rs143051164, and rs149840771 with carbohydrate metabolism disorders among patients with MODY and DM2 in Russia.

KW - GLIS3

KW - Maturity onset diabetes of the young

KW - MODY

KW - Population

KW - rs143051164

KW - rs149840771

KW - rs806052

KW - Single-nucleotide polymorphism

KW - Type 2 diabetes mellitus

KW - European Continental Ancestry Group/genetics

KW - Gene Frequency

KW - Humans

KW - Middle Aged

KW - Carbohydrate Metabolism

KW - Genotype

KW - Male

KW - Transcription Factors/genetics

KW - Russia

KW - Genetic Predisposition to Disease/ethnology

KW - Diabetes Mellitus, Type 2/ethnology

KW - Female

KW - Aged

KW - Polymorphism, Single Nucleotide

UR - http://www.scopus.com/inward/record.url?scp=85044566872&partnerID=8YFLogxK

U2 - 10.1186/s13104-018-3338-1

DO - 10.1186/s13104-018-3338-1

M3 - Article

C2 - 29606121

AN - SCOPUS:85044566872

VL - 11

SP - 211

JO - BMC Research Notes

JF - BMC Research Notes

SN - 1756-0500

IS - 1

M1 - 211

ER -