Results of variance component analyses for anthropometric and cardiometabolic traits using final models selected from the stepwise model selection and the full model in GS20K.

<p>Results of variance component analyses for anthropometric and cardiometabolic traits using final models selected from the stepwise model selection and the full model in GS20K.</p

Boxplots for estimates of each component obtained from models ‘G’, ‘K’, ‘F’, ‘S’, ‘C’, ‘GK’, ‘GKC’, ‘GKSC’ and ‘GKFSC’.

<p>X-axis: the contributors to the simulated phenotype and the model used (matched model); Y-axis: proportion of total phenotypic variance captured by each design matrix. Yellow lines: simulated value for each component. Parameter settings: = 0.3, = 0.2, = 0.1, = 0.1 and = 0.05. For example, the 2^nd boxplot of the 3^rd graph means that, the simulated phenotypes are contributed by 30%, 20%, 10% and 40% of SNP-associated, pedigree-associated, couple environmental and residual effects respectively; we conducted variance component analyses for all replicates using the matched model ‘<b>GKC</b>’ and the estimates of range from about 8% to 12% with a mean of 10%, as expected.</p

Heritability estimates using subpopulations of GS10K with different GRM cut-off points.

<p>X-axis: the number of individuals among whom the pairwise relationship is larger than a specified degree; Y-axis: Heritability estimates with ± 2 <i>s</i>.<i>e</i>.</p

Comparisons of sample sizes, number of non-zero off-diagonal entries and number of pairwise relationships of different degrees between GS10K and GS20K.

<p>Comparisons of sample sizes, number of non-zero off-diagonal entries and number of pairwise relationships of different degrees between GS10K and GS20K.</p

Illustration of the model and matrices.

<p>The diagram shows the relationship between the tested genetic/environmental effect and the individuals in an example pedigree. Each colour represents a specific effect and individuals affected by that effect are circled with that colour. People in grey or black are the people not in or in the data. Examples of how the relationship matrices for those effects look are also given.</p

Results of variance component analyses for anthropometric and cardiometabolic traits using final models selected from the stepwise model selection and the full model in GS10K.

<p>Results of variance component analyses for anthropometric and cardiometabolic traits using final models selected from the stepwise model selection and the full model in GS10K.</p

Results of variance component analysis using final selected models for anthropometric and cardiometabolic traits in GS20K.

<p>X-axis: names of phenotype; Y-axis: proportion of phenotypic/genetic variance explained by the different components. a) Proportion of phenotypic variance explained by genetics and environment for each trait. b) Proportion of phenotypic variance explained by different components kept in the selected model for each trait. c) Proportion of genetic variance explained by SNP-associated and pedigree-associated genetic effects.</p

Additional file 1: of DNA methylation in a Scottish family multiply affected by bipolar disorder and major depressive disorder

Table S1. Sample demographic information for the individuals included in this study. Table S2. Comparison of 12 normalisation methods. Table S3. Probes attaining an uncorrected p-value of ≤ 0.05 in the comparison of individuals carrying the linked haplotype (LH) and married in controls (MI), ranked by p-value. Table S4. Probes attaining an uncorrected p-value of ≤ 0.05 in the comparison of affected individuals carrying the linked haplotype (ALH) and married in controls (MI), ranked by p-value. Table S5. Probes attaining an uncorrected p-value of ≤ 0.05 in the comparison of unaffected individuals carrying the linked haplotype (ULH) and married in controls (MI), ranked by p-value. Table S6. Probes attaining an uncorrected p-value of ≤ 0.05 in the comparison of affected individuals carrying the linked haplotype (ALH) and unaffected carriers of the linked haplotype (ULH), ranked by p-value. Table S7. Differentially methylated regions (DMRs) identified in affected carriers of the linked haplotye(ALH) compared to married in controls (MI), ranked by p-value. Table S8. Differentially methylated regions (DMRs) identified in carriers of the linked haplotye (LH) compared to married in controls (MI), ranked by p-value. Table S9. Differentially methylated regions (DMRs) identified in unaffected carriers of the linked haplotye (ULH) compared to married in controls (MI), ranked by p-value. Table S10. Differentially methylated regions (DMRs) identified in affected carriers of the linked haplotye (ALH) compared to unaffected carriers of the linked haplotype (ULH), ranked by p-value. Table S11. Significantly enriched molecular process gene ontology (GO) categories identified in the ALH vs. MI comparison. Table S12. Significantly enriched biological function gene ontology (GO) categories identified in the ALH vs. MI comparison. Table S13. Significantly enriched cellular component gene ontology (GO) categories identified in the ALH vs. MI comparison. Table S14. Significantly enriched molecular process gene ontology (GO) categories identified in the ULH vs. MI comparison. Table S15. Significantly enriched biological function gene ontology (GO) categories identified in the ULH vs. MI comparison. Table S16. Significantly enriched cellular component gene ontology (GO) categories identified in the ULH vs. MI comparison. Table S17. Significantly enriched molecular process gene ontology (GO) categories identified in the ALH vs. ULH comparison. Table S18. Significantly enriched biological function gene ontology (GO) categories identified in the ALH vs. ULH comparison. Table S19. Significantly enriched molecular process gene ontology (GO) categories identified in the LH vs. MI comparison. Table S20. Significantly enriched biological function gene ontology (GO) categories identified in the LH vs. MI comparison. Table S21. Significantly enriched cellular component gene ontology (GO) categories identified in the LH vs. MI comparison. Table S22. Details of the qRT-PCR assays used to measure the seven reference genes assessed for the stability of their expression using geNorm [75]. XLSX 8646 kb

Additional file 13: of Exploration of haplotype research consortium imputation for genome-wide association studies in 20,032 Generation Scotland participants

GS_HRC_imputed_Waist_Hip_Ratio_significant_SNPS. (XLSX 8 kb

Manželské mýty

Phenotype heritabilities. Figure S2. Miami plot for height. Figure S3. Miami plot for BMI. Figure S4. Miami plot for waist circumference. Figure S5. Miami plot for waist-to-hip ratio. Figure S6. Miami plot for body fat percentage. Figure S7. Miami plot for diastolic blood pressure. Figure S8. Miami plot for creatinine. Figure S9. Miami plot for urea. Figure S10. Miami plot for fasting glucose (all individuals included). Figure S11. Miami plot for fasting glucose (excluding diabetics and measurements of >7 mmol/L). Figure S12. Miami plot for HDL cholesterol. Figure S13. Miami plot for total cholesterol. Figure S14. Miami plot for total cholesterol adjusted for statin use. Figure S15. QQ plots for all traits analysed. Figure S16. Comparison of effect sizes for GUGC top hits in the GS:SFHS EHR analysis. (PDF 2160 kb