Improved estimates for four-year neuropsychological outcomes in children with isolated congenital heart defects.

<p>Abbreviations. SD  =  standard error. ADHD  =  attention deficit/hyperactivity disorder. CBCL  =  Child Behavior Checklist for ages 1.5 to 5 years. PDPs  =  pervasive developmental problems.</p

Baseline and operative characteristics of the cohort.

<p>Abbreviations: SD  =  standard deviation. DHCA  =  deep hypothermic circulatory arrest.</p>a<p><i>APOE</i> genotypes were categorized into three groups: ε2 (ε2ε2, ε2ε3, or ε2ε4), ε3 (ε3ε3), and ε4 (ε3ε4 or ε4ε4).</p

Manhattan plots of –log(<i>P</i>) for association of SNPs and chromosomal position for all SNPs analyzed in linear regression covariate-adjusted models.

<p>Panel A presents the Manhattan plot for the phenotype, ADHD-IV Impulsivity Scale. Panel B presents the Manhattan plot for the phenotype, CBCL/1.5-5 PDPs. Panel C presents the Manhattan plot for the phenotype, CBCL/1.5-5 Total Problems. Red horizontal line represents 5×10⁻⁸ threshold for genome-wide significance. Blue horizontal line indicates the 10⁻⁶ threshold for suggestive genome-wide significance.</p

Confirmation of the Reported Association of Clonal Chromosomal Mosaicism with an Increased Risk of Incident Hematologic Cancer

<div><p>Chromosomal abnormalities provide clinical utility in the diagnosis and treatment of hematologic malignancies, and may be predictive of malignant transformation in individuals without apparent clinical presentation of a hematologic cancer. In an effort to confirm previous reports of an association between clonal mosaicism and incident hematologic cancer, we applied the anomDetectBAF algorithm to call chromosomal anomalies in genotype data from previously conducted Genome Wide Association Studies (GWAS). The genotypes were initially collected from DNA derived from peripheral blood of 12,176 participants in the Group Health electronic Medical Records and Genomics study (eMERGE) and the Women’s Health Initiative (WHI). We detected clonal mosaicism in 169 individuals (1.4%) and large clonal mosaic events (>2 mb) in 117 (1.0%) individuals. Though only 9.5% of clonal mosaic carriers had an incident diagnosis of hematologic cancer (multiple myeloma, myelodysplastic syndrome, lymphoma, or leukemia), the carriers had a 5.5-fold increased risk (95% CI: 3.3–9.3; p-value = 7.5×10⁻¹¹) of developing these cancers subsequently. Carriers of large mosaic anomalies showed particularly pronounced risk of subsequent leukemia (HR = 19.2, 95% CI: 8.9–41.6; p-value = 7.3×10⁻¹⁴). Thus we independently confirm the association between detectable clonal mosaicism and hematologic cancer found previously in two recent publications.</p> </div

Quantitative and case-control association result of top SNPs in UGT1A1 for total serum bilirubin levels in pediatric and adult subgroups.

<p>*Map Position: NCBI build 37.</p><p>†linear regression association test.</p><p>‡Chi-square test.</p><p>Quantitative and case-control association result of top SNPs in UGT1A1 for total serum bilirubin levels in pediatric and adult subgroups.</p

(A and B) Manhattan plot and Q–Q plot of genome-wide markers for total serum bilirubin in 3294 European samples respectively.

<p>(A and B) Manhattan plot and Q–Q plot of genome-wide markers for total serum bilirubin in 3294 European samples respectively.</p

A schematic representation of association map at UGT1A region for total serum bilirubin.

<p>The TA repeat location is shown with vertical line.</p

(A) The association signal between total serum ALP and the ABO blood locus. (B): The association of lead SNPs at the ABO locus with serum ALP and their relation with ABO tag SNPs (rs8176746, rs8176704, rs505922); A significant drop in association effect in lead SNPs after controlling for ABO-tag SNPs are shown (red and black dots represent before and after conditional analyses respectively).

<p>(A) The association signal between total serum ALP and the ABO blood locus. (B): The association of lead SNPs at the ABO locus with serum ALP and their relation with ABO tag SNPs (rs8176746, rs8176704, rs505922); A significant drop in association effect in lead SNPs after controlling for ABO-tag SNPs are shown (red and black dots represent before and after conditional analyses respectively).</p

A GWAS Study on Liver Function Test Using eMERGE Network Participants - Table 4

<p>A GWAS Study on Liver Function Test Using eMERGE Network Participants - Table 4 </p

The LD structure between markers in peak association signals.

<p>r2 = correlation coefficient as a measure of linkage disequilibrium.</p