Expressive

rs11992186 - RN7SL178P - CLDN23

Magnitude 4.5 · 3 studies on file

Reported associations

  • Genome-wide Associations Reveal Human-Mouse Genetic Convergence and Modifiers of Myogenesis, CPNE1 and STC2. - American journal of human genetics (2020) · Hernandez Cordero AI, Gonzales NM, Parker CC, Sokolof G, Vandenbergh DJ, Cheng R, Abney M, Sko A, Douglas A, Palmer AA, Gregory JS, Lionikas A · PubMed 31761296

    Muscle bulk in adult healthy humans is highly variable even after height, age, and sex are accounted for. Low muscle mass, due to fewer and/or smaller constituent muscle fibers, would exacerbate the impact of muscle loss occurring in aging or disease. Genetic variability substantially influences muscle mass differences, but causative genes remain largely unknown. In a genome-wide association study (GWAS) on appendicular lean mass (ALM) in a population of 85,750 middle-aged (aged 38-49 years) individuals from the UK Biobank (UKB), we found 182 loci associated with ALM (p < 5 × 10 ). We replicated associations for 78% of these loci (p < 5 × 10 ) with ALM in a population of 181,862 elderly (aged 60-74 years) individuals from UKB. We also conducted a GWAS on hindlimb skeletal muscle m

  • Association analysis in over 329,000 individuals identifies 116 independent variants influencing neuroticism - Unknown journal (n.d.) · Unknown authors · PubMed 29255261

    ABSTRACT: Neuroticism is a relatively stable personality trait characterised by negative emotionality (e.g., worry, guilt); twin study heritability ranges 30 to 50%, and SNP-based heritability ranges 6 to 15%. Increased neuroticism is associated with poorer mental and physical health, translating to high economic burden. Genome-wide association (GWA) studies of neuroticism have identified up to 11 genetic loci. Here we report 116 significant independent loci from a GWA of neuroticism in 329,821 UK Biobank participants; 15 of these replicated at P<.00045 in an unrelated cohort (N = 122,867). Genetic signals were enriched in neuronal genesis and differentiation pathways, and substantial genetic correlations were found between neuroticism and depressive symptoms (rg = .82, SE=.03), major depr

  • Genome-wide association analyses of chronotype in 697,828 individuals provides insights into circadian rhythms - Unknown journal (n.d.) · Unknown authors · PubMed 30696823

    ABSTRACT: Being a morning person is a behavioural indicator of a person's underlying circadian rhythm. Using genome-wide data from 697,828 UK Biobank and 23andMe participants we increase the number of genetic loci associated with being a morning person from 24 to 351. Using data from 85,760 individuals with activity-monitor derived measures of sleep timing we find that the chronotype loci associate with sleep timing: the mean sleep timing of the 5% of individuals carrying the most morningness alleles is 25 min earlier than the 5% carrying the fewest. The loci are enriched for genes involved in circadian regulation, cAMP, glutamate and insulin signalling pathways, and those expressed in the retina, hindbrain, hypothalamus, and pituitary. Using Mendelian Randomisation, we show that being

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