rs10456089 - AMD1P4 - HIVEP1

Magnitude 4.5 · 5 studies on file

Reported associations

• Genetic underpinnings of sociability in the general population. - Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology (2021) · Bralten J, Mota NR, Klemann CJHM, De Witte W, Laing E, Collier DA, de Kluiver H, Bauduin SEEC, Arango C, Ayuso-Mateos JL, Fabbri C, Kas MJ, van der Wee N, Penninx BWJH, Serretti A, Franke B, Poelmans G · PubMed 34054130

  Levels of sociability are continuously distributed in the general population, and decreased sociability represents an early manifestation of several brain disorders. Here, we investigated the genetic underpinnings of sociability in the population. We performed a genome-wide association study (GWAS) of a sociability score based on four social functioning-related self-report questions from 342,461 adults in the UK Biobank. Subsequently we performed gene-wide and functional follow-up analyses. Robustness analyses were performed in the form of GWAS split-half validation analyses, as well as analyses excluding neuropsychiatric cases. Using genetic correlation analyses as well as polygenic risk score analyses we investigated genetic links of our sociability score to brain disorders and social be

• Phenome-wide investigation of health outcomes associated with genetic predisposition to loneliness. - Human molecular genetics (2020) · Abdellaoui A, Sanchez-Roige S, Sealock J, Treur JL, Dennis J, Fontanillas P, Elson S, Nivard MG, Ip HF, van der Zee M, Baselmans BML, Hottenga JJ, Willemsen G, Mosing M, Lu Y, Pedersen NL, Denys D, Amin N, M van Duijn C, Szilagyi I, Tiemeier H, Neumann A, Verweij KJH, Cacioppo S, Cacioppo JT, Davis LK, Palmer AA, Boomsma DI · PubMed 31518406

  Humans are social animals that experience intense suffering when they perceive a lack of social connection. Modern societies are experiencing an epidemic of loneliness. Although the experience of loneliness is universally human, some people report experiencing greater loneliness than others. Loneliness is more strongly associated with mortality than obesity, emphasizing the need to understand the nature of the relationship between loneliness and health. Although it is intuitive that circumstantial factors such as marital status and age influence loneliness, there is also compelling evidence of a genetic predisposition toward loneliness. To better understand the genetic architecture of loneliness and its relationship with associated outcomes, we extended the genome-wide association study me

• Leveraging Polygenic Functional Enrichment to Improve GWAS Power. - American journal of human genetics (2019) · Kichaev G, Bhatia G, Loh PR, Gazal S, Burch K, Freund MK, Schoech A, Pasaniuc B, Price AL · PubMed 30595370

  Functional genomics data has the potential to increase GWAS power by identifying SNPs that have a higher prior probability of association. Here, we introduce a method that leverages polygenic functional enrichment to incorporate coding, conserved, regulatory, and LD-related genomic annotations into association analyses. We show via simulations with real genotypes that the method, functionally informed novel discovery of risk loci (FINDOR), correctly controls the false-positive rate at null loci and attains a 9%-38% increase in the number of independent associations detected at causal loci, depending on trait polygenicity and sample size. We applied FINDOR to 27 independent complex traits and diseases from the interim UK Biobank release (average N = 130K). Averaged across traits, we attaine

• Elucidating the genetic basis of social interaction and isolation. - Nature communications (2019) · Day FR, Ong KK, Perry JRB · PubMed 29970889

  The negative impacts of social isolation and loneliness on health are well documented. However, little is known about their possible biological determinants. In up to 452,302 UK Biobank study participants, we perform genome-wide association study analyses for loneliness and regular participation in social activities. We identify 15 genomic loci (P < 5 × 10 ) for loneliness, and demonstrate a likely causal association between adiposity and increased susceptibility to loneliness and depressive symptoms. Further loci were identified for regular attendance at a sports club or gym (N = 6 loci), pub or social club (N = 13) or religious group (N = 18). Across these traits there was strong enrichment for genes expressed in brain regions that control emotional expression and b

• Item-level analyses reveal genetic heterogeneity in neuroticism. - Nature communications (2018) · Nagel M, Watanabe K, Stringer S, Posthuma D, van der Sluis S · PubMed 29500382

  Genome-wide association studies (GWAS) of psychological traits are generally conducted on (dichotomized) sums of items or symptoms (e.g., case-control status), and not on the individual items or symptoms themselves. We conduct large-scale GWAS on 12 neuroticism items and observe notable and replicable variation in genetic signal between items. Within samples, genetic correlations among the items range between 0.38 and 0.91 (mean r = .63), indicating genetic heterogeneity in the full item set. Meta-analyzing the two samples, we identify 255 genome-wide significant independent genomic regions, of which 138 are item-specific. Genetic analyses and genetic correlations with 33 external traits support genetic differences between the items. Hierarchical clustering analysis identifies two geneti

Auto-generated from study metadata. AI-synthesised commentary is added when this entry is regenerated through content-service's LLM mode.