Additional file 1: of Cytokine levels and associations with symptom severity in male and female children with autism spectrum disorder

Supplementary Information. (DOCX 3801 kb

Manhattan plot of genotyped SNPs from logistic additive model.

<p>A) all samples, B) exposed samples.</p

Summary statistics of all the subjects included in the Italian GWAS.

<p>Summary statistics of all the subjects included in the Italian GWAS.</p

Italian top 12 genotyped SNP list (2-tailed logistic regression, n = 759 overall, n = 593 exposed only).

<p>Italian top 12 genotyped SNP list (2-tailed logistic regression, n = 759 overall, n = 593 exposed only).</p

Regional replication of Italian top signals in the Australian study for 5 out of the 20 regions.

<p>(1-tailed binomial test and meta-analysis).</p>a<p>NCBI36/hg18.</p>b<p>Italian study.</p>c<p>Australian study.</p

Nested multivariate logistic regression models: 1) model 1, without genetic component; 2) model 2, with genetic component.

*<p>adjusted for age, gender and center of recruitment.</p><p>MODEL 1: AIC = 871.3, AUC = 0.76.</p><p>MODEL 2: AIC = 730.27, AUC = 0.86.</p

Receiver Operating Curves (ROC) for the two multivariate models including asbestos exposure 1) without and 2) with the 10 most robust and significant genetic variants.

<p>Receiver Operating Curves (ROC) for the two multivariate models including asbestos exposure 1) without and 2) with the 10 most robust and significant genetic variants.</p

eQTL: <i>PVT1</i> and <i>MYC</i> gene-expression levels in blood cells across rs78941347 genotypes.

<p>eQTL: <i>PVT1</i> and <i>MYC</i> gene-expression levels in blood cells across rs78941347 genotypes.</p

Region-, Gene- and GO process-based analysis on top SNPs (1-tailed binomial test, n = 759, alpha 0.0025, alpha = 0.01, alpha = 0.025, respectively).

<p>Region-, Gene- and GO process-based analysis on top SNPs (1-tailed binomial test, n = 759, alpha 0.0025, alpha = 0.01, alpha = 0.025, respectively).</p

Sixteen new lung function signals identified through 1000 Genomes Project reference panel imputation

Lung function measures are used in the diagnosis of chronic obstructive pulmonary disease. In 38,199 European ancestry individuals, we studied genome-wide association of forced expiratory volume in one second (FEV1), forced vital capacity (FVC) and FEV1/FVC with 1000 Genomes Project (Phase 1) imputed genotypes and followed up top associations in 54,550 Europeans. We identify 14 novel loci (P<5x10-8) in or near ENSA, RNU5F-1, KCNS3, AK097794, ASTN2, LHX3, CCDC91, TBX3, TRIP11, RIN3, TEKT5, LTBP4, MN1, AP1S2, and two novel signals at known loci NPNT and GPR126, providing a basis for new understanding of the genetic determinants of these traits and pulmonary diseases in which they are altered