Genetic Variability of GCKR Alters Lipid Profiles in Children with Monogenic and Autoimmune Diabetes

Tracz, Adam; Madzio, Joanna; Gnyś, Piotr; Małachowska, Beata; Borowiec, Maciej; Wyka, Krystyna; Jarosz-Chobot, Przemysława; Myśliwiec, Małgorzata; Szadkowska, Agnieszka; Młynarski, Wojciech; Fendler, Wojciech

doi:10.1055/s-0034-1375648

Cited by 5 publications

(2 citation statements)

References 30 publications

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“…Here, we determined whether GCKR loci that were known to have significant associations with cholesterol and triglyceride levels in Korean adults [22] [26] and Caucasians with monogenic and autoimmune diabetes, regardless of GCKR mutations [27]. However, the association of GCKR variants, including rs780094, rs780092, and rs1260326, with triglycerides, a phenomenon that has been widely studied and replicated, was not detected in…”

Section: Discussionmentioning

confidence: 98%

The dietary monounsaturated to saturated fatty acid ratio modulates the genetic effects of GCKR on serum lipid levels in children

Lee

Jang

Kim

et al. 2015

Clinica Chimica Acta

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Section: Discussionmentioning

confidence: 98%

The dietary monounsaturated to saturated fatty acid ratio modulates the genetic effects of GCKR on serum lipid levels in children

Lee

Jang

Kim

et al. 2015

Clinica Chimica Acta

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“…Several GWAS showed the association of GCKR variants primarily with serum TG level [15, 16, 19, 20, 22, 23, 26], moreover two of these GWAS and meta-analyses showed the association of the GCKR rs1260326 variant with plasma TC level [23, 26]. Homozygosity for the ‘T’ allele of rs1260320 was also shown to be associated with elevated TC and LDL-C levels in a Polish group of children with monogenic diabetes mellitus and type-1 diabetes mellitus [212]. In a Korean population-based candidate gene study, two other GCKR variants (rs780094 and rs780092) showed the association with TC level in adults and TC and LDL-C level in children [213].…”

Section: Genetic Basis Of Polygenic Hypercholesterolemia – the Genes mentioning

confidence: 99%

Genetic determinants of inherited susceptibility to hypercholesterolemia – a comprehensive literature review

2017

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Hypercholesterolemia is a strong determinant of mortality and morbidity associated with cardiovascular diseases and a major contributor to the global disease burden. Mutations in four genes (LDLR, APOB, PCSK9 and LDLRAP1) account for the majority of cases with familial hypercholesterolemia. However, a substantial proportion of adults with hypercholesterolemia do not have a mutation in any of these four genes. This indicates the probability of having other genes with a causative or contributory role in the pathogenesis of hypercholesterolemia and suggests a polygenic inheritance of this condition. Here in, we review the recent evidence of association of the genetic variants with hypercholesterolemia and the three lipid traits; total cholesterol (TC), HDL-cholesterol (HDL-C) and LDL-cholesterol (LDL-C), their biological pathways and the associated pathogenetic mechanisms. Nearly 80 genes involved in lipid metabolism (encoding structural components of lipoproteins, lipoprotein receptors and related proteins, enzymes, lipid transporters, lipid transfer proteins, and activators or inhibitors of protein function and gene transcription) with single nucleotide variants (SNVs) that are recognized to be associated with hypercholesterolemia and serum lipid traits in genome-wide association studies and candidate gene studies were identified. In addition, genome-wide association studies in different populations have identified SNVs associated with TC, HDL-C and LDL-C in nearly 120 genes within or in the vicinity of the genes that are not known to be involved in lipid metabolism. Over 90% of the SNVs in both these groups are located outside the coding regions of the genes. These findings indicates that there might be a considerable number of unrecognized processes and mechanisms of lipid homeostasis, which when disrupted, would lead to hypercholesterolemia. Knowledge of these molecular pathways will enable the discovery of novel treatment and preventive methods as well as identify the biochemical and molecular markers for the risk prediction and early detection of this common, yet potentially debilitating condition.Electronic supplementary materialThe online version of this article (doi:10.1186/s12944-017-0488-4) contains supplementary material, which is available to authorized users.

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Whole exome sequencing identifies genetic variants in Chinese Han pregnant women with venous thromboembolism

Shen

Zhang

Xiong

et al. 2022

Thrombosis Research

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Genetic Variability of GCKR Alters Lipid Profiles in Children with Monogenic and Autoimmune Diabetes

Abstract: Individuals who are homozygous TT at rs1260326 of the GCKR gene have higher triglyceride, total and LDL cholesterol levels regardless of the presence of GCK mutations.

Cited by 5 publications

References 30 publications

The dietary monounsaturated to saturated fatty acid ratio modulates the genetic effects of GCKR on serum lipid levels in children

The dietary monounsaturated to saturated fatty acid ratio modulates the genetic effects of GCKR on serum lipid levels in children

Genetic determinants of inherited susceptibility to hypercholesterolemia – a comprehensive literature review

Whole exome sequencing identifies genetic variants in Chinese Han pregnant women with venous thromboembolism

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