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Article
Open AccessDifferential DNA methylation at birth associated with mental disorder in individuals with 22q11.2 deletion syndrome
Individuals with 22q11.2 deletion syndrome (DS) have an increased risk of comorbid mental disorders including schizophrenia, attention deficit hyperactivity disorder, depression, as well as intellectual disabi...
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Article
Open AccessExome sequencing-driven discovery of coding polymorphisms associated with common metabolic phenotypes
Human complex metabolic traits are in part regulated by genetic determinants. Here we applied exome sequencing to identify novel associations of coding polymorphisms at minor allele frequencies (MAFs) >1% with...
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Article
Common variation in oxidative phosphorylation genes is not a major cause of insulin resistance or type 2 diabetes
There is substantial evidence that mitochondrial dysfunction is linked to insulin resistance and is present in several tissues relevant to the pathogenesis of type 2 diabetes. Here, we examined whether common ...
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Article
Erratum to: Type 2 diabetes risk allele near CENTD2 is associated with decreased glucose-stimulated insulin release
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Article
Type 2 diabetes risk allele near CENTD2 is associated with decreased glucose-stimulated insulin release
By combining multiple genome-wide association (GWA) studies and comprehensive replication efforts, 12 novel type 2 diabetes associated loci have recently been discovered. Here we evaluate the effect of lead va...
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Article
The diabetogenic VPS13C/C2CD4A/C2CD4B rs7172432 variant impairs glucose-stimulated insulin response in 5,722 non-diabetic Danish individuals
A genome-wide association study in the Japanese population reported two genome-wide significant loci associated with type 2 diabetes of which the VPS13C/C2CD4A/C2CD4B locus was replicated in Europeans. We looked ...
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Article
Combined analysis of 19 common validated type 2 diabetes susceptibility gene variants shows moderate discriminative value and no evidence of gene–gene interaction
The list of validated type 2 diabetes susceptibility variants has recently been expanded from three to 19. The variants identified are common and have low penetrance in the general population. The aim of the s...
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Article
Impact of polymorphisms in WFS1 on prediabetic phenotypes in a population-based sample of middle-aged people with normal and abnormal glucose regulation
Recently, variants in WFS1 have been shown to be associated with type 2 diabetes. We aimed to examine metabolic risk phenotypes of WFS1 variants in glucose-tolerant people and in individuals with abnormal glucose...
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Article
The GCKR rs780094 polymorphism is associated with elevated fasting serum triacylglycerol, reduced fasting and OGTT-related insulinaemia, and reduced risk of type 2 diabetes
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Article
The GCKR rs780094 polymorphism is associated with elevated fasting serum triacylglycerol, reduced fasting and OGTT-related insulinaemia, and reduced risk of type 2 diabetes
Recent genome-wide association studies have suggested that a polymorphism in GCKR, the gene encoding the glucokinase regulatory protein, is involved in triacylglycerol regulation. Our aim was to examine in large-...
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Article
Genetic analysis of the estrogen-related receptor α and studies of association with obesity and type 2 diabetes
The estrogen-related receptor α (ERRα or NR3B1) is a transcription factor from the nuclear receptor super-family, group III. The gene encoding ERRα (ESRRA) is located on chromosome 11q13, a region showing genetic...
