Olfactory dysfunction is common among older adults and affects their safety, nutrition, quality of life, and mortality. More importantly, the decreased sense of smell is an early symptom of neurodegenerative diseases such as Parkinson disease (PD) and Alzheimer disease. However, the genetic determinants for the sense of smell have been poorly investigated. We here performed the first genome-wide meta-analysis on the sense of smell among 6252 US older adults of European descent from the Atherosclerosis Risk in Communities (ARIC) study, the Health, Aging, and Body Composition (Health ABC) study, and the Religious Orders Study and the Rush Memory and Aging Project (ROS/MAP). Genome-wide association study analysis was performed first by individual cohorts and then meta-analyzed using fixed-effect models with inverse variance weights. Although no SNPs reached genome-wide statistical significance, we identified 13 loci with suggestive evidence for an association with the sense of smell (Pmeta < 1 × 10). Of these, 2 SNPs at chromosome 17q21.31 (rs199443 in NSF, P = 3.02 × 10; and rs2732614 in KIAA1267-LRRC37A, P = 6.65 × 10) exhibited cis effects on the expression of microtubule-associated protein tau (MAPT, 17q21.31) in 447 frontal-cortex samples obtained postmortem and profiled by RNA-seq (P < 1 × 10). Gene-based and pathway-enrichment analyses further implicated MAPT in regulating the sense of smell in older adults. Similar results were obtained after excluding participants who reported a physician-diagnosed PD or use of PD medications. In conclusion, we provide preliminary evidence that the MAPT locus may play a role in regulating the sense of smell in older adults and therefore offer a potential genetic link between poor sense of smell and major neurodegenerative diseases.
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http://dx.doi.org/10.1097/MD.0000000000001892 | DOI Listing |
Biosens Bioelectron
December 2024
Laboratory of Microsystems LMIS1, Ecole Polytechnique Fédérale de Lausanne (EPFL), 1015, Lausanne, Switzerland.
The loss of olfactory function has a profound impact on quality of life, affecting not only sensory perception but also memory, emotion, and overall well-being. Despite this, advancements in olfactory prostheses have lagged significantly behind those made for vision and hearing restoration. This review offers a comprehensive analysis of the current state of devices for electrical stimulation of the olfactory system.
View Article and Find Full Text PDFPLoS One
December 2024
Clínica Colsanitas and Facultad de Medicina, Universidad Nacional de Colombia, Bogotá, Colombia.
Background: Despite declining COVID-19 incidence, healthcare workers (HCWs) still face an elevated risk of Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2) infection. We developed a diagnostic multivariate model to predict positive reverse transcription polymerase chain reaction (RT-PCR) results in HCWs with suspected SARS-CoV-2 infection.
Methods: We conducted a cross-sectional study on episodes involving suspected SARS-CoV-2 symptoms or close contact among HCWs in Bogotá, Colombia.
Endocr Connect
December 2024
M Ruchala, Department of Endocrinology, Metabolism and Internal Diseases, Poznan University of Medical Sciences, Poznań, Poland.
Introduction And Objectives: Isolated hypogonadotropic hypogonadism (IHH) may be associated with pituitary gland and olfactory system disorders. We aimed to correlate findings of Magnetic Resonance Imaging (MRI) of the pituitary gland and olfactory system in IHH patients with the patients' olfactory phenotype.
Patients And Methods: The present research was a single-center retrospective case-control study.
Eur Ann Otorhinolaryngol Head Neck Dis
December 2024
Service d'oto-rhino-laryngologie et chirurgie cervico-faciale, hôpital de la fondation Rothschild, 29, rue Manin, Paris, France.
Introduction: Progressive anosmia, unlike sudden-onset viral or traumatic anosmia, requires endoscopic screening for nasal polyps. In the absence of polyposis, radiological work-up should diagnose and treat any curable pathology. Here, we report the case of a patient treated for olfactory cleft actinomycosis.
View Article and Find Full Text PDFMov Disord Clin Pract
December 2024
Department of Otorhinolaryngology, TU Dresden, Smell and Taste Clinic, Dresden, Germany.
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