Expressive

rs11093404 - PABPC1L2B-AS1

Magnitude 2.2 · 2 studies on file

Reported associations

  • Genome-Wide Association Study Reveals Multiple Loci Influencing Normal Human Facial Morphology - Unknown journal (n.d.) · Unknown authors · PubMed 27560520

    ABSTRACT: Numerous lines of evidence point to a genetic basis for facial morphology in humans, yet little is known about how specific genetic variants relate to the phenotypic expression of many common facial features. We conducted genome-wide association meta-analyses of 20 quantitative facial measurements derived from the 3D surface images of 3118 healthy individuals of European ancestry belonging to two US cohorts. Analyses were performed on just under one million genotyped SNPs (Illumina OmniExpress+Exome v1.2 array) imputed to the 1000 Genomes reference panel (Phase 3). We observed genome-wide significant associations (p < 5 x 10−8) for cranial base width at 14q21.1 and 20q12, intercanthal width at 1p13.3 and Xq13.2, nasal width at 20p11.22, nasal ala length at 14q11.2, and upper fa

  • Genome-wide association study of facial morphology reveals novel associations with FREM1 and PARK2 - Unknown journal (n.d.) · Unknown authors · PubMed 28441456

    ABSTRACT: Several studies have now shown evidence of association between common genetic variants and quantitative facial traits in humans. The reported associations generally involve simple univariate measures and likely represent only a small fraction of the genetic loci influencing facial morphology. In this study, we applied factor analysis to a set of 276 facial linear distances derived from 3D facial surface images of 2187 unrelated individuals of European ancestry. We retained 23 facial factors, which we then tested for genetic associations using a genome-wide panel of 10,677,593 single nucleotide polymorphisms (SNPs). In total, we identified genome-wide significant (p < 5 × 10−8) associations in three regions, including two that are novel: one involving measures of midface height

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