rs11756438 - CEP85L

Magnitude 2.8 · 4 studies on file

Reported associations

• Genetic overlap between Attention-Deficit/Hyperactivity Disorder and Bipolar Disorder: Evidence from GWAS meta-analysis. - Unknown journal (n.d.) · Unknown authors · PubMed 27890468

  ABSTRACT: Background: Attention-deficit/hyperactivity disorder (ADHD) and bipolar disorder (BPD) are frequently co-occurring and highly heritable mental health conditions. We hypothesized that BPD cases with an early age of onset (≤21 years) would be particularly likely to show genetic covariation with ADHD. Methods: GWAS data were available for 4,609 individuals with ADHD, 9,650 individuals with BPD (5,167 thereof with early-onset BPD) and 21,363 typically developing controls. We conducted a cross-disorder GWAS meta-analysis to identify whether the observed comorbidity between ADHD and BPD could be due to shared genetic risks. Results: We found a significant SNP-based genetic correlation between ADHD and BPD in the full and age-restricted samples (rGfull = 0.64, p = 3.13×10−14; rGres

• Genetic analyses of diverse populations improves discovery for complex traits - Unknown journal (n.d.) · Unknown authors · PubMed 31217584

  ABSTRACT: Genome-wide association studies (GWAS) have laid the foundation for investigations into the biology of complex traits, drug development and clinical guidelines. However, the majority of discovery efforts are based on data from populations of European ancestry. In light of the differential genetic architecture that is known to exist between populations, bias in representation can exacerbate existing disease and healthcare disparities. Critical variants may be missed if they have a low frequency or are completely absent in European populations, especially as the field shifts its attention towards rare variants, which are more likely to be population-specific. Additionally, effect sizes and their derived risk prediction scores derived in one population may not accurately extrapolate

• Deep learning enabled analysis of medical images identifies cardiac sphericity as an early marker of cardiomyopathy and related outcomes - Unknown journal (n.d.) · Unknown authors · PubMed 36996817

  ABSTRACT: Summary Background: Quantification of chamber size and systolic function is a fundamental component of cardiac imaging. However, the human heart is a complex structure with significant uncharacterized phenotypic variation beyond traditional metrics of size and function. Examining variation in cardiac shape can add to our ability to understand cardiovascular risk and pathophysiology. Methods: We measured the left ventricle (LV) sphericity index (short axis length / long axis length) using deep learning enabled image segmentation of cardiac magnetic resonance imaging data from the UK Biobank. Subjects with abnormal LV size or systolic function were excluded. The relationship between LV sphericity and cardiomyopathy was assessed using Cox analyses, genome-wide association studies, a

• Common variants at ten loci influence myocardial repolarization: the QTGEN consortium - Unknown journal (n.d.) · Unknown authors · PubMed 19305408

  ABSTRACT: QT interval duration reflecting myocardial repolarization on the electrocardiogram is a heritable risk factor for sudden cardiac death and drug-induced arrhythmias. We conducted a meta-analysis of 3 genome-wide association studies in 13,685 individuals of European ancestry from the Framingham Heart Study, the Rotterdam Study and the Cardiovascular Health Study. We observed associations at P < 5×10−8 with variants in NOS1AP, KCNQ1, KCNE1, KCNH2 and SCN5A, known to be involved in myocardial repolarization and Mendelian Long QT Syndromes. Associations at five novel loci included 16q21 near NDRG4 and GINS3, 6q22 near PLN, 1p36 near RNF207, 16p13 near LITAF and 17q12 near LIG3 and RIFFL. Collectively, the 14 independent variants at these 10 loci explain 5.4-6.5% of variation in Q

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