Expressive

rs11289753 - PLCE1

Magnitude 2.2 · 3 studies on file

Reported associations

  • Genome-wide association study of body fat distribution identifies adiposity loci and sex-specific genetic effects - Unknown journal (n.d.) · Unknown authors · PubMed 30664634

    ABSTRACT: Body mass and body fat composition are of clinical interest due to their links to cardiovascular- and metabolic diseases. Fat stored in the trunk has been suggested to be more pathogenic compared to fat stored in other compartments. In this study, we perform genome-wide association studies (GWAS) for the proportion of body fat distributed to the arms, legs and trunk estimated from segmental bio-electrical impedance analysis (sBIA) for 362,499 individuals from the UK Biobank. 98 independent associations with body fat distribution are identified, 29 that have not previously been associated with anthropometric traits. A high degree of sex-heterogeneity is observed and the effects of 37 associated variants are stronger in females compared to males. Our findings also implicate that b

  • Amplitudes of resting-state functional networks - investigation into their correlates and biophysical properties - Unknown journal (n.d.) · Unknown authors · PubMed 36462729

    ABSTRACT: Highlights Variability in amplitude of resting-state networks (RSNs) was assessed across 37,842 subjects. Network amplitudes are closely linked to functional connectivity between RSNs. Temporal synchrony between brain regions is a key factor determining RSN amplitudes. Sex effects on temporal synchrony differ between sensory and cognitive RSNs. Genetic variants associated with RSN amplitudes overlap with those associated with synchrony. Resting-state fMRI studies have shown that multiple functional networks, which consist of distributed brain regions that share synchronised spontaneous activity, co-exist in the brain. As these resting-state networks (RSNs) have been thought to reflect the brain's intrinsic functional organization, intersubject variability in the networks' spont

  • The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease - Unknown journal (n.d.) · Unknown authors · PubMed 27863252

    ABSTRACT: Summary Many common variants have been associated with hematological traits, but identification of causal genes and pathways has proven challenging. We performed a genome-wide association analysis in the UK Biobank and INTERVAL studies, testing 29.5 million genetic variants for association with 36 red cell, white cell, and platelet properties in 173,480 European-ancestry participants. This effort yielded hundreds of low frequency (<5%) and rare (<1%) variants with a strong impact on blood cell phenotypes. Our data highlight general properties of the allelic architecture of complex traits, including the proportion of the heritable component of each blood trait explained by the polygenic signal across different genome regulatory domains. Finally, through Mendelian randomization, we

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