Publications by authors named "L Dlouha"
Article Synopsis
- - Familial dysbetalipoproteinemia (FD) is a rare genetic disorder linked to variations in the apolipoprotein E gene (APOE), but not all APOE2/E2 individuals develop symptoms, suggesting other unknown factors may play a role in the disease.
- - In a study of 101 FD patients and 80 controls, two specific single-nucleotide polymorphisms (SNPs) were significantly associated with the FD phenotype and were used to create genetic risk scores (GRS2 and GRS15) to better assess risk among APOE2/E2 subjects.
- - The analysis found that individuals with a GRS2 of three or higher had a nearly four-fold greater risk of developing
Background: Type 2 diabetes mellitus (T2DM) is a prototypical complex disease with polygenic architecture playing an important role in determining susceptibility to develop the disease (and its complications) in subjects exposed to modifiable lifestyle factors. A current challenge is to quantify the degree of the individual's genetic risk using genetic risk scores (GRS) capturing the results of genome-wide association studies while incorporating possible ethnicity- or population-specific differences.
Methods: This study included three groups of T2DM (T2DM-I, N = 1,032; T2DM-II, N = 353; and T2DM-III, N = 399) patients and 2,481 diabetes-free subjects.
Type 2 diabetes mellitus (T2DM) is a complex disease that has risen in global prevalence over recent decades, resulting in concomitant and enormous socio-economic impacts. In addition to the well-documented risk factors of obesity, poor dietary habits and sedentary lifestyles, genetic background plays a key role in the aetiopathogenesis of diabetes and the development of associated micro- and macrovascular complications. Recent advances in genomic research, notably next-generation sequencing and genome- wide association studies, have greatly improved the efficiency with which genetic backgrounds to complex diseases are analysed.
View Article and Find Full Text PDFBackground: Common polymorphisms within the apolipoprotein E (APOE) gene are suggested to be associated with the development of type 2 diabetes mellitus (T2DM), but the potential association with T2DM complications (nephropathy, neuropathy and retinopathy) remains unclear. We perform the case-control study to analyse the association between the APOE polymorphism and risk of T2DM and to analysed the potential relationship between the APOE and T2DM complications.
Methods And Results: APOE variants (rs429358 and rs7412) were genotyped by TaqMan assay in T2DM patients (N = 1274; N = 829 with complications including retinopathy, neuropathy and nephropathy status) and with PCR-RFLP in healthy nondiabetic controls (N = 2055).