Expressive

rs10427255 - RPL6P5 - METAP2P1

Magnitude 2.2 · 5 studies on file

Reported associations

  • Multivariate analysis of 1.5 million people identifies genetic associations with traits related to self-regulation and addiction - Unknown journal (n.d.) · Unknown authors · PubMed 34446935

    ABSTRACT: Behaviors and disorders related to self-regulation, such as substance use, antisocial behavior, and ADHD, are collectively referred to as externalizing and have shared genetic liability. We applied a multivariate approach that leverages genetic correlations among externalizing traits for genome-wide association analyses. By pooling data from ~1.5 million people, our approach is statistically more powerful than single-trait analyses and identifies more than 500 genetic loci. The loci were enriched for genes expressed in the brain and related to nervous system development. A polygenic score constructed from our results predicts a range of behavioral and medical outcomes that were not part of genome-wide analyses, including traits that until now lacked well-performing polygenic scor

  • A genome-wide association study on photic sneeze reflex in the Chinese population - Unknown journal (n.d.) · Unknown authors · PubMed 30899065

    ABSTRACT: Photic sneeze reflex (PSR) is an interesting but yet mysterious phenotype featured by individuals' response of sneezing in exposure to bright light. To uncover the underlying genetic markers (single nucleotide polymorphisms, SNPs), a genome-wide association study (GWAS) was conducted exclusively in a Chinese population of 3417 individuals (PSR prevalence at 25.6%), and reproducibly identified both a replicative rs10427255 on 2q22.3 and a novel locus of rs1032507 on 3p12.1 in various effect models (additive, as well as dominant and recessive). Minor alleles respectively contributed to increased or reduced risk for PSR with odds ratio (95% confidence interval) at 1.68 ([1.50, 1.88]) for rs10427255 and 0.65 ([0.58, 0.72]) for rs1032507. The two independent SNPs were intergenic, an

  • Meta-analysis of up to 622,409 individuals identifies 40 novel smoking behaviour associated genetic loci - Unknown journal (n.d.) · Unknown authors · PubMed 30617275

    ABSTRACT: Smoking is a major heritable and modifiable risk factor for many diseases, including cancer, common respiratory disorders and cardiovascular diseases. Fourteen genetic loci have previously been associated with smoking behaviour-related traits. We tested up to 235,116 single nucleotide variants (SNVs) on the exome-array for association with smoking initiation, cigarettes per day, pack-years, and smoking cessation in a fixed effects meta-analysis of up to 61 studies (up to 346,813 participants). In a subset of 112,811 participants, a further one million SNVs were also genotyped and tested for association with the four smoking behaviour traits. SNV-trait associations with P < 5 × 10−8 in either analysis were taken forward for replication in up to 275,596 independent part

  • Web-Based, Participant-Driven Studies Yield Novel Genetic Associations for Common Traits - Unknown journal (n.d.) · Unknown authors · PubMed 20585627

    ABSTRACT: Despite the recent rapid growth in genome-wide data, much of human variation remains entirely unexplained. A significant challenge in the pursuit of the genetic basis for variation in common human traits is the efficient, coordinated collection of genotype and phenotype data. We have developed a novel research framework that facilitates the parallel study of a wide assortment of traits within a single cohort. The approach takes advantage of the interactivity of the Web both to gather data and to present genetic information to research participants, while taking care to correct for the population structure inherent to this study design. Here we report initial results from a participant-driven study of 22 traits. Replications of associations (in the genes OCA2, HERC2, SLC45A2, SLC2

  • Genetic diversity fuels gene discovery for tobacco and alcohol use - Unknown journal (n.d.) · Unknown authors · PubMed 36477530

    ABSTRACT: Tobacco and alcohol use are heritable behaviours associated with 15% and 5.3% of worldwide deaths, respectively, due largely to broad increased risk for disease and injury. These substances are used across the globe, yet genome-wide association studies have focused largely on individuals of European ancestries. Here we leveraged global genetic diversity across 3.4 million individuals from four major clines of global ancestry (approximately 21% non-European) to power the discovery and fine-mapping of genomic loci associated with tobacco and alcohol use, to inform function of these loci via ancestry-aware transcriptome-wide association studies, and to evaluate the genetic architecture and predictive power of polygenic risk within and across populations. We found that increases in s

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