Browsing by Subject "Correlation study"

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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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    A retrospective analysis of comorbid traits affecting feeding in infants with Down syndrome
    (2012-07-03) Duvall, Nichole L.; Roper, Randall J.; Marrs, Kathleen A.; Chernoff, Ellen
    Down syndrome (DS) is the most common aneuploidy to affect humans and occurs in approximately 1 of 750 live births. Individuals with DS present with a wide range of clinical phenotypes. Common craniofacial phenotypic expressions include a small mandible, protruding tongue, and a flattened nasal bridge. These traits may affect the feeding, breathing, and swallowing of individuals with DS. Because some complications may go unnoticed for longer periods of time, we hypothesize that significant cardiac and GI defects may be indicative of feeding and airway difficulties. In order to better understand the secondary phenotypes resulting from DS, we have implemented a retrospective chart review of 137 infants between zero and six months of age who were evaluated through the Down Syndrome Program at Riley Hospital for Children from August 2005 to August 2008. Data regarding cardiac, gastrointestinal, endocrine, airway, auditory, and feeding abnormalities have been collected and incedences and comorbidites of these traits has been examined. Comprehensive results indicate cardiac abnormalities occur in 80% of infants, 60% experience gastrointestinal complications, feeding difficulties occur in 46%, and airway complications occur in 38% of infants. Infants with DS were found to be breastfed less over time, with an increase in tube feeds. Notably, we have found all infants with videofluoroscopic evaluations had some type of dysphagia. The presence of gastrointestinal abnormalities closely correlate with the need for tube feeds, and the comorbidity between GI anomalies and muscle tone appear to indicate the likelihood of feeding difficulties and need for altered feeding strategies. Comorbidities between feeding difficulties were nearly significant with cardiac defects and significant with GI abnormalities. Identification of such associations will help healthcare providers determine the best course of treatment and recommended feeding methodology for infants with DS. In order to utilize an in vitro model to study the craniofacial dysmorphologies seen in individuals with DS, cranial neural crest cells (NC) have been cultured. With these, we have begun to investigate the mechanisms behind a smaller trisomic mandibular precursor as compared to the euploid. With this in vitro model, we will be able to test proliferation, migration, and senescence of NC in a culture system.