Publications by authors named "Z Kutalik"

Although the use of short self-report measures is common practice in biobank initiatives, such a phenotyping strategy is inherently prone to reporting errors. To explore challenges related to self-report errors, we first derived a reporting error score in the UK Biobank (UKBB; n = 73,127), capturing inconsistent self-reporting in time-invariant phenotypes across multiple measurement occasions. We then performed genome-wide scans on the reporting error score, applied downstream analyses (linkage disequilibrium score regression and Mendelian randomization) and compared its properties to the UKBB participation propensity.

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  • Early worsening of plasma lipid levels (EWL), defined as a ≥5% change after one month, is linked to long-term lipid issues in patients treated with certain psychotropic medications.
  • This study identified that low initial levels of total cholesterol, LDL-C, and triglycerides, along with high HDL-C levels, are significant risk factors for EWL, and integrating specific genetic variations (SNPs) can enhance prediction accuracy.
  • Overall, clinical and genetic factors are important for predicting EWL and developing new-onset dyslipidaemia, suggesting the need for larger studies to improve these predictive models for clinical use.
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  • Genetic variants found in GWAS are mostly non-coding and have subtle effects on genes, while Mendelian disease variants are coding and directly influence diseases.
  • The study connects common and rare genetic diseases by analyzing how common variants affect gene co-expression across various tissues, using a tool called Downstreamer on 88 GWAS traits.
  • Key findings show that important downstream genes related to common traits, like height, are often linked to Mendelian disease genes, with many being located outside GWAS loci, indicating complex regulatory interactions.
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Weight-inducing psychotropic treatments are risk factors for age-related diseases such as cardiovascular disorders, which are associated with both inflammation and telomere length shortening. With a longitudinal design, the present study evaluates telomere length trajectories after 1 year of weight-inducing psychotropic medication, accounting for weight changes and the inflammatory biomarker high-sensitivity C-Reactive Protein (CRP). Among 200 patients, an overall median telomere shortening of -41.

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  • * The study reviews the wide range of effects (pleiotropy) caused by these rearrangements and highlights similarities in findings from clinical studies and larger population studies, showing they affect multiple bodily systems, not just the brain and body measurements.
  • * Understanding the varied symptoms these genomic changes can cause is essential for accurate diagnoses and tailored treatments, and further research is needed to uncover the factors behind these differences and the biological pathways that explain them.
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