Abstract
BackgroundQuality of life (QoL) is increasingly measured in both research and clinical practice. QoL-assessments are built on a long, empirically-based, and stringent approach. There is ample evidence that QoL is, in part, heritable. We therefore performed a GWAS relating genetic variation to QoL in healthy females.MethodsIn 5,142 healthy females, background characteristics (e.g. demographic, clinical, lifestyle and psychological factors) and QoL by means of the EORTC QLQ-C30 were measured. Moreover, women were genotyped using a custom array including ~210,000 single nucleotide polymorphisms (SNPs). Initially, SNPs were related to each QoL-domain, by means of partially adjusted (controlling for age and population stratification) and fully adjusted (controlling for age, population stratification, and background characteristics) regression analyses. Additionally, gene-based analyses were performed relating the combined effect of SNPs within each gene to QoL using the statistical software package VEGAS.ResultsNone of the associations between QoL and genetic variation (i.e. individual SNPs and genes) reached the bonferroni corrected significance level.ConclusionReasons for a lack of association between genetic markers and QoL could be low variation in QoL-scores; selecting genetic markers not tagging QoL; or that the genetic effect that impacts one’s QoL is mediated through biological pathways rather than the effect of single SNPs or genes. Therefore, we opt for a pathway-based or system biology approach as a complementary and powerful approach to analyze the combined effect of genes and their biological implications in future studies focusing on QoL-issues.
Highlights
Patient-reported outcomes are measurements based on the report that comes directly from the person, without the amendment or interpretation of others.[1]
Gene-based analyses were performed relating the combined effect of single nucleotide polymorphisms (SNPs) within each gene to quality of life (QoL) using the statistical software package Versatile Gene-based Association Study (VEGAS)
The Genetic Basis of Quality of Life: A Genome Wide Association Study impacts one’s QoL is mediated through biological pathways rather than the effect of single SNPs or genes
Summary
Patient-reported outcomes are measurements based on the report that comes directly from the person, without the amendment or interpretation of others.[1]. Nine year school Gymnasium University Other Clinical factors Being on hormone replacement therapy Using painkillers Number of medical conditionsc None One Two Three Four or more Lifestyle factors Body mass index (BMI) as mean score (range)d Using tobacco Psychological factors Stress in the last five yearse Never stressed Seldom stressed Often stressed Always stressed Number of life stressors 0 1 2 3 !4 Hours of sleepf 5 hours or less 6 hours 7 hours 8 hours or more Quality of life Global health/ quality of life, mean (SD) Functional scales Physical functioning (highest QoL) Role functioning (highest QoL) Emotional functioning, mean (SD) Cognitive functioning, mean (SD)g N (%) 54.3 (22–88) 419 (8.2) 75.8 (22.2). Please note that for the QoL-scales 6, 3, 10, 1, 0, 6 participants respectively information was missing. g
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