Distribution of long, rare CNVs in each cohort for individuals with a crytallized-type intelligence (<i>g_c</i>).

<p>Total numbers of individuals with <i>g_c</i> phenotype carrying 0–3 long (≥500 kb), rare (<1% frequency) copy number variants in each cohort.</p

Total CNV burden in each cohort for crystallized-type intelligence (<i>g_c</i>).

<p>Total <i>N</i> represents the number of individuals with <i>g_c</i> phenotypes, and high quality genetic data used to call CNVs. Load is the total number of CNVs counted in each cohort, called by both PennCNV and QuantiSNP, that passed quality control criteria, namely longer that 500 kb, and present at a frequency of 1% or less within each cohort, and Rate is the average number of such CNVs per individual within each cohort, with totals for All CNVs called, and separated into Deletions and Duplications.</p

Tests of significance of CNV load on regression on crystallized-type (<i>g_c</i>) intelligence.

<p>Effect sizes are reported as standardized β values for each regression model, fitting total CNV count, length and number of genes disrupted against crystallized-type (<i>g_c</i>) intelligence for rare CNVs of length ≥500 kb present at ≤1% frequency in each cohort. Regression models fitted for all CNVS (all), deletions only (Dels) and duplications only (Dups). P-values for regression tests are given for each regression, along with empirical p-values, calculated from 100,000 permutations of each model.</p

Total genes disrupted by CNVs in each cohort for fluid-type intelligence (<i>g_f</i>).

<p>Gene load is calculated as the number of genes whose co-ordinates +/−20 kb intersect with a CNV that passes QC checks (length ≥500 kb, and frequency ≤1%). Rate is the average number of such CNVs per individual.</p

Total genes disrupted by CNVs in each cohort for crystallized-type intelligence (<i>g_c</i>).

<p>Gene load, is calculated as the number of genes whose co-ordinates +/−20 kb intersect with a CNV that passes QC checks (length ≥500 kb, and frequency ≤1%). Rate is the average number of such CNVs per individual.</p

Total CNV burden in each cohort for fluid-type intelligence (<i>g_f</i>).

<p>Total <i>N</i> represents the number of individuals with <i>g_f</i> phenotypes, and high quality genetic data used to call CNVs. Load is the total number of CNVs counted in each cohort, called by both PennCNV and QuantiSNP, that passed quality control criteria, namely longer that 500 kb, and present at a frequency of 1% or less within each cohort, and Rate is the average number of such CNVs per individual within each cohort, with totals for All CNVs called, and separated into Deletions and Duplications.</p

Distribution of long, rare CNVs in each cohort for individuals with a fluid-type intelligence (<i>g_f</i>).

<p>Total numbers of individuals with <i>g_f</i> phenotype carrying 0–3 long (≥500 kb), rare (< 1% frequency) copy number variants in each cohort.</p

Tests of significance of CNV load on regression on fluid-type (<i>g_f</i>) intelligence.

<p>Effect sizes are reported as standardized β values for each regression model, fitting total CNV count, length and number of genes disrupted against fluid-type (<i>g_f</i>) intelligence for rare CNVs of length ≥500 kb present at ≤1% frequency in each cohort. Regression models fitted for all CNVS (all), deletions only (Dels) and duplications only (Dups). P-values for regression tests are given for each regression, along with empirical p-values, calculated from 100,000 permutations of each model.</p

Common and low-frequent <i>SERPINA1</i> SNPs and their association with AAT serum level, univariate and conditional on significantly associated SNPs (N = 5569^a), in SAPALDIA.

<p>Abbreviations: AAT, alpha1-antitrypsin; MAF, minor allele frequency; SNP, single nucleotide polymorphism.</p><p>Chromosomal position is based on reference panel, NCBI build 36.3.</p>a<p>Includes subjects for whom all the 16 SNPs have been successfully genotyped.</p>b<p>SNP selection was based on extreme trait sequence data (A), tagging SNPs according to HapMap (B), TAMAL software (C) and publication about functionality (D); see <a href="http://www.plosgenetics.org/article/info:doi/10.1371/journal.pgen.1003585#s4" target="_blank">Materials and Methods</a> for a more detailed description.</p>c<p>Univariate analyses were adjusted for non-genetic factors only (sex, age, recruiting area and current smoking status). Allele effects are shown in absolute numbers and P<0.005 was considered statistically significant.</p>d<p>In a forward selection approach of stepwise regression, the four SNPs in bold contributed statistically significantly to the variability in AAT serum levels and were included in the final statistical model. Allele effects and p-values refer to this final model.</p

Minor allele effects on FEV1 of low-frequent and common SNPs in the <i>SERPINA</i> gene cluster in ever-smokers undergoing lung resection.

<p>Abbreviations: FEV1, forced expiratory volume in one second; MAF, minor allele frequency; SNP, single nucleotide polymorphism.</p><p>Imp-r² is an indicator for imputation quality. The analyses were adjusted for age, sex and height.</p>a<p>Rs4905179 was genotyped in UBC.</p