Browsing by Subject "Facial morphology"

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    Exploring the association between SNPs and facial morphology in a Spanish population
    (Springer Nature, 2025-04-22) Navarro-López, Belén; Wilke, Franziska; Suárez-Ulloa, Victoria; Baeta, Miriam; Martos-Fernández, Rubén; Moreno-López, Olatz; Olalde, Iñigo; Martínez-Jarreta, Begoña; Jiménez, Susana; Walsh, Susan; de Pancorbo, Marian M.; Medical and Molecular Genetics, School of Medicine
    Understanding and predicting human external phenotypes, particularly facial shape, is of great value for individual identification. However, facial morphology is a highly complex trait. Despite its complexity, recent genome wide association studies (GWAS) have shed light on potential SNPs associated with facial features, offering a first glimpse into the likely genetic background of individual appearance. In this paper we have selected a set of 116 candidate SNPs and studied their association with facial phenotypes in a Spanish population of 412 individuals, highlighting a wide spectrum of facial morphologies worthy of investigation. We performed canonical correlation analysis (CCA) between each SNP and the observed spacial variation in facial shape, from its representation by a dense mesh of 7160 quasi-landmarks, revealing significant associations within different facial segments. In particular, ten SNPs are highlighted for their strong association within this Spanish population, some of them uncovering correlations with novel facial regions. These findings underline the importance and usefulness of conducting candidate SNP studies, not only to validate existing associations but also to unveil novel correlations within subpopulations.
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    The Intersection of the Genetic Architectures of Orofacial Clefts and Normal Facial Variation
    (Frontiers Media, 2021-02-22) Indencleef, Karlijne; Hoskens, Hanne; Lee, Myoung Keun; White, Julie D.; Liu, Chenxing; Eller, Ryan J.; Naqvi, Sahin; Wehby, George L.; Moreno Uribe, Lina M.; Hecht, Jacqueline T.; Long, Ross E., Jr.; Christensen, Kaare; Deleyiannis, Frederic W.; Walsh, Susan; Shriver, Mark D.; Richmond, Stephen; Wysocka, Joanna; Peeters, Hilde; Shaffer, John R.; Marazita, Mary L.; Hens, Greet; Weinberg, Seth M.; Claes, Peter; Biology, School of Science
    Unaffected relatives of individuals with non-syndromic cleft lip with or without cleft palate (NSCL/P) show distinctive facial features. The presence of this facial endophenotype is potentially an expression of underlying genetic susceptibility to NSCL/P in the larger unselected population. To explore this hypothesis, we first partitioned the face into 63 partially overlapping regions representing global-to-local facial morphology and then defined endophenotypic traits by contrasting the 3D facial images from 264 unaffected parents of individuals with NSCL/P versus 3,171 controls. We observed distinct facial features between parents and controls across 59 global-to-local facial segments at nominal significance (p ≤ 0.05) and 52 segments at Bonferroni corrected significance (p < 1.2 × 10–3), respectively. Next, we quantified these distinct facial features as univariate traits in another dataset of 8,246 unaffected European individuals and performed a genome-wide association study. We identified 29 independent genetic loci that were associated (p < 5 × 10–8) with at least one of the tested endophenotypic traits, and nine genetic loci also passed the study-wide threshold (p < 8.47 × 10–10). Of the 29 loci, 22 were in proximity of loci previously associated with normal facial variation, 18 were near genes that show strong evidence in orofacial clefting (OFC), and another 10 showed some evidence in OFC. Additionally, polygenic risk scores for NSCL/P showed associations with the endophenotypic traits. This study thus supports the hypothesis of a shared genetic architecture of normal facial development and OFC.