PIk3R1 SNPs: position and minor allele frequencies

<p>PIk3R1 SNPs: position and minor allele frequencies</p

Combination of tag SNP alleles defining each haplotype and frequencies

<p>Haplotype tagging SNPs are indicated in bold. (0) indicates the allele with major frequency, (1) the allele with minor frequency.</p

UCSC genome browser generated view of genomic region of <i>PIK3R1</i> including exons 2 to 7.

<p>Coding exons are represented by blocks connected by horizontal lines representing introns. The 5′ untranslated regions (UTRs) are displayed as thinner blocks on the leading ends of the aligning regions. Arrowheads on the connecting intron lines indicate the direction of transcription. Position of CpG islands, putative promoter and transcription start sites are indicated. Location of transcription factor binding sites conserved in the human/mouse/rat alignment is indicated. Conservation of binding sites in all 3 species is computed with the Transfac Matrix Database (v7.0). Evolutionary conservation in 17 vertebrates, including mammalian, amphibian, bird, and fish species was scored by the phastCons program following MULTIZ alignments. Conservation scores are displayed as wiggle, where the height reflects the size of the score. Pairwise alignments of each species to the human genome are displayed below as a “wiggle” that indicates alignment quality.</p

Association of <i>PIK3R1</i> SNPs with alcohol consumption patterns in adolescents (TDT)

<p>T = transmitted, U untransmitted</p>a<p>Subject has never been drunk vs. has been drunk</p>b<p>Median split at 16 g alcohol</p

Demographic and clinical characteristics in male and female adolescents

1<p>“enriched” family adversity index as proposed by Rutter and Quinton measuring the presence of 11 adverse family factors covering characteristics of the parents, the partnership, and the family environment during a period of one year prior to birth</p>2<p>obstetric adversity score counting the presence of 9 adverse conditions during pregnancy, delivery, and postnatal period such as preterm labor, asphyxia or seizures</p

IMAGEN_DIS_Supplemental_Material_final – Supplemental material for Extending the Construct Network of Trait Disinhibition to the Neuroimaging Domain: Validation of a Bridging Scale for Use in the European IMAGEN Project

<p>Supplemental material, IMAGEN_DIS_Supplemental_Material_final for Extending the Construct Network of Trait Disinhibition to the Neuroimaging Domain: Validation of a Bridging Scale for Use in the European IMAGEN Project by Sarah J. Brislin, Christopher J. Patrick, Herta Flor, Frauke Nees, Angela Heinrich, Laura E. Drislane, James R. Yancey, Tobias Banaschewski, Arun L. W. Bokde, Uli Bromberg, Christian Büchel, Erin Burke Quinlan, Sylvane Desrivières, Vincent Frouin, Hugh Garavan, Penny Gowland, Andreas Heinz, Bernd Ittermann, Jean-Luc Martinot, Marie-Laure Paillère Martinot, Dimitri Papadopoulos Orfanos, Luise Poustka, Juliane H. Fröhner, Michael N. Smolka, Henrik Walter, Robert Whelan, Patricia Conrod, Argyris Stringaris, Maren Struve, Betteke van Noort, Yvonne Grimmer, Tahmine Fadai, Gunter Schumann, and Jens Foell in Assessment</p

Common genetic variants influence human subcortical brain structures

The highly complex structure of the human brain is strongly shaped by genetic influences1. Subcortical brain regions form circuits with cortical areas to coordinate movement2, learning, memory3 and motivation4, and altered circuits can lead to abnormal behaviour and disease2. To investigate how common genetic variants affect the structure of these brain regions, here we conduct genome-wide association studies of the volumes of seven subcortical regions and the intracranial volume derived from magnetic resonance images of 30,717 individuals from 50 cohorts. We identify five novel genetic variants influencing the volumes of the putamen and caudate nucleus. We also find stronger evidence for three loci with previously established influences on hippocampal volume5 and intracranial volume6. These variants show specific volumetric effects on brain structures rather than global effects across structures. The strongest effects were found for the putamen, where a novel intergenic locus with replicable influence on volume (rs945270; P = 1.08?×?10-33; 0.52% variance explained) showed evidence of altering the expression of the KTN1 gene in both brain and blood tissue. Variants influencing putamen volume clustered near developmental genes that regulate apoptosis, axon guidance and vesicle transport. Identification of these genetic variants provides insight into the causes of variability in human brain development, and may help to determine mechanisms of neuropsychiatric dysfunction