Additional file 1: of Arterial stiffness in patients with coronary artery disease: relation with in-stent restenosis following percutaneous coronary intervention

The study data. (XLSX 16 kb

Subpopulations of white blood cells.

<p>Subpopulations of white blood cells.</p

Meta-analysis assessing potential confounding of SES variables on the association between F_ROHLD and height.

<p>SES variables are educational attainment (EA) and occupational status (OS).</p

Three alternative measures of mean homozygosity, with 95% confidence intervals, by population sample.

<p>(A) shows mean F_ROH by population sample. F_ROH is defined as the percentage of the genotyped autosomal genome in ROH measuring at least 1.5 Mb. Mean values of F_ROH per population (with 95% confidence intervals) are: CROATIA-Korčula = 1.27 (1.18, 1.36); CROATIA-Split = 0.65 (0.59, 0.71); CROATIA-Vis = 0.94 (0.87,1.01); EGCUT = 0.56 (0.54, 0.58); ERF = 1.12 (1.04, 1.20); FINRISK = 0.79 (0.77, 0.82); HBCS = 0.63 (0.60, 0.65); H2000 = 0.84 (0.82, 0.86); INGI-CARL = 0.78 (0.65, 0.91); INGI-FVG = 1.49 (1.40, 1.58); INGI-VB = 0.76 (0.71, 0.81); LBC1921 = 0.30 (0.25, 0.35); LBC1936 = 0.26 (0.24, 0.28); MICROS = 0.93 (0.87, 0.99); NFBC1966 = 1.02 (1.00, 1.04); NSPHS = 2.83 (2.64, 3.02); ORCADES = 0.81 (0.75, 0.87); QIMR = 0.22 (0.21, 0.23); RS = 0.29 (0.28, 0.30); SOCCS = 0.30 (0.28, 0.32); YFS = 0.81 (0.79, 0.83). (B) shows mean F_ROHLD by population sample. F_ROHLD is defined as the percentage of the genotyped autosomal genome in ROH measuring at least 1.0 Mb, derived from a panel of independent SNPs. Mean values of F_ROHLD per population (with 95% confidence intervals) are: CROATIA-Korčula = 0.67 (0.61, 0.73); CROATIA-Split = 0.13 (0.11, 0.15); CROATIA-Vis = 0.48 (0.43, 0.53); EGCUT = 0.10 (0.09, 0.10); ERF = 0.53 (0.48, 0.58); FINRISK = 0.21 (0.20, 0.23); HBCS = 0.13 (0.11, 0.14); H2000 = 0.23 (0.22, 0.24); INGI-CARL = 0.44 (0.34, 0.54); INGI-FVG = 0.93 (0.86, 0.99); INGI-VB = 0.41 (037, 0.45); LBC1921 = 0.05 (0.02, 0.09); LBC1936 = 0.02 (0.01, 0.03); MICROS = 0.47 (0.43, 0.51); NFBC1966 = 0.32 (0.31, 0.33); NSPHS = 1.17 (1.07, 1.27); ORCADES = 0.35 (0.31, 0.39); QIMR = 0.013 (0.011, 0.015); RS = 0.04 (0.01, 0.07); SOCCS = 0.03 (0.02, 0.04); YFS = 0.20 (0.19, 0.21). (C) shows mean F_hom by population sample. F_hom is defined as the percentage of genotyped autosomal SNPs that are homozygous. Mean values of F_hom per population (with 95% confidence intervals) are: CROATIA-Korčula = 65.47 (65.43, 65.51); CROATIA-Split = 65.28 (65.25, 65.31); CROATIA-Vis = 65.61 (65.58, 65.64); EGCUT = 65.69 (65.68, 65.70); ERF = 65.32 (65.29, 65.35); FINRISK = 65.25 (65.23, 65.27); HBCS = 65.13 (65.12, 65.14); H2000 = 65.24 (65.23, 65.25); INGI-CARL = 65.20 (65.14, 65.26); INGI-FVG = 65.53 (65.49, 65.57); INGI-VB = 65.18 (65.16, 65.20); LBC1921 = 65.00 (64.97, 65.03); LBC1936 = 65.00 (64.99, 65.01); MICROS = 65.26 (65.23, 65.29); NFBC1966 = 65.27 (65.26, 65.28); NSPHS = 66.09 (66.01, 66.17); ORCADES = 65.37 (65.34, 65.40); QIMR = 64.75 (64.74, 64.76); RS = 65.00 (64.99, 65.01); SOCCS = 64.97 (64.95, 64.99); YFS = 65.26 (65.25, 65.27).</p

Sample details.

1<p>All data were analysed using Illumina SNP arrays. 300 refers to the Illumina HumanHap 300 panel, 370 to the Illumina HumanHap 370 Duo/Quad panels, 610 to the Illumina Human 610 Quad panel and 670 to the Illumina Human 670 Quad panel. In order to harmonise the data, the analysis was conducted using only those SNPs present in the HumanHap 300 panel.</p>2<p>Population-based studies.</p>3<p>Population-based studies in isolated populations.</p>4<p>Birth cohort studies.</p>5<p>Case control studies.</p

Forest plot of the effect of F_ROHLD on height.

<p>Results of a meta-analysis of the association between F_ROHLD and height are shown for twenty-one population samples. The model was adjusted for age and sex in all samples. Additionally, it was adjusted for genomic kinship in samples with pairs of related individuals (CROATIA-Korčula, CROATIA-Split, CROATIA-Vis, ERF, FINRISK, HBCS, H2000, INGI-CARL, INGI-FVG, INGI-VB, MICROS, NFBC1966, NSPHS, ORCADES and YFS). The plot shows estimated effect sizes (solid squares) for each population, with 95% confidence intervals (horizontal lines). Each sample estimate is weighted by the inverse of the squared standard error of the regression coefficient, so that the smaller the standard error of the study, the greater the contribution it makes to the pooled regression coefficient. The area of the solid squares is proportional to the weighting given to each study in the meta-analysis. Effect sizes in z-score units (with 95% confidence intervals) are: CROATIA-Korčula = −0.02 (−0.09, 0.04); CROATIA-Split = −0.06 (−0.1, −0.002); CROATIA-Vis = −0.07 (−0.1, −0.01); EGCUT = −0.09 (−0.04, 0.2); ERF = −0.08 (−0.1, −0.05); FINRISK = −0.1 (−0.2, −0.07); HBCS = −0.04 (−0.2, 0.1); H2000 = −0.2 (−0.5, 0.04); INGI-CARL = 0.02 (−0.03, 0.07); INGI-FVG = −0.0001 (−0.08, 0.08); INGI-VB = 0.005 (−0.03, 0.04); LBC1921 = −0.1 (−0.3, 0.04); LBC1936 = 0.2 (−0.1, 0.4); MICROS = −0.06 (−0.08, −0.05); NFBC1966 = −0.1 (−0.2, −0.1); NSPHS = −0.07 (−0.07, −0.06); ORCADES = −0.04 (−0.08, 0.001); QIMR = −0.07 (−0.5, 0.3); RS = −0.02 (−0.1, 0.08); SOCCS = −0.05 (−0.4, 0.3); YFS = −0.3 (−1.2, 0.7).</p

Meta-analysis of the association between height and genome-wide homozygosity, adjusted for age and sex only.

<p>Meta-analysis of the association between height and genome-wide homozygosity, adjusted for age and sex only.</p

Genome-wide association for serum calcium in discovery analysis in Europeans.

<p>Manhattan plot showing −log₁₀(P values) for all SNPs in the discovery GWAS for uncorrected serum calcium in Europeans (N = 39,400), ordered by chromosomal position. The plot is truncated at −log10 P values of 10 (truncated −log₁₀P values for GCKR and CASR). The values correspond to the association of uncorrected serum calcium, including age and sex as covariates in the model as well as study-specific covariates if needed. The gene closest to the SNP with the lowest P value is listed at each locus. Six loci reached genome-wide significance (<i>P</i><5E-08) at discovery analysis (<i>GCKR</i>, <i>DGKD</i>, <i>CASR</i>, <i>VKORC1L1</i> (in grey on chromosome 7), <i>CARS</i> and <i>CYP24A1</i>. The seven loci that reached genome-wide significance at the combined analysis following replication are highlighted in red (<i>GCKR</i>, <i>DGKD</i>, CASR, <i>GATA3</i>, <i>CARS</i>, <i>DGKH</i>-KIAA0564 and <i>CYP24A1</i>).</p

Relative mRNA expression of identified genes from mice fed a low (0.17%) and high (1.69%) calcium diet compared to mice fed a normal calcium diet (0.82%).

<p>Data are means± SEM of values obtained from 5 mice for each diet group. Expression levels were normalized to actin. Statistical significance of the difference between diets was calculated using unpaired t-test. *: <i>P</i>≤0.05 (low compared to high); §: <i>P</i>≤0.05 (low compared to normal); # <i>P</i>≤0.05 (high compared to normal).</p

Relative mRNA expression of replicated genes in three calcium-transporting tissues (kidney, duodenum, tibia).

<p>The expression (based on delta CT [cycle threshold] normalized to actin) of the selected genes is compared to the expression of the <i>CASR</i> gene in the duodenum, thereby providing a relative expression. Cut-off was set at delta CT≤15. Data are means ± standard error of the mean (SEM) of values obtained from 5 mice fed a normal diet. <i>GCKR</i> was not expressed.</p