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1.
Genes (Basel) ; 12(5)2021 04 29.
Artículo en Inglés | MEDLINE | ID: mdl-33946865

RESUMEN

Ageing is associated with a decrease in odour identification. Additionally, deficits in olfaction have been linked to age-related disease and mortality. Heritability studies suggest genetic variation contributes to olfactory identification. The olfactory receptor (OR) gene family is the largest in the human genome and responsible for overall odour identification. In this study, we sought to find olfactory gene family variants associated with individual and overall odour identification and to examine the relationships between polygenic risk scores (PRS) for olfactory-related phenotypes and olfaction. Participants were Caucasian older adults from the Sydney Memory and Ageing Study and the Older Australian Twins Study with genome-wide genotyping data (n = 1395, mean age = 75.52 ± 6.45). The Brief-Smell Identification Test (BSIT) was administered in both cohorts. PRS were calculated from independent GWAS summary statistics for Alzheimer's disease (AD), white matter hyperintensities (WMH), Parkinson's disease (PD), hippocampal volume and smoking. Associations with olfactory receptor genes (n = 967), previously identified candidate olfaction-related SNPs (n = 36) and different PRS with BSIT scores (total and individual smells) were examined. All of the relationships were analysed using generalised linear mixed models (GLMM), adjusted for age and sex. Genes with suggestive evidence for odour identification were found for 8 of the 12 BSIT items. Thirteen out of 36 candidate SNPs previously identified from the literature were suggestively associated with several individual BSIT items but not total score. PRS for smoking, WMH and PD were negatively associated with chocolate identification. This is the first study to conduct genetic analyses with individual odorant identification, which found suggestive olfactory-related genes and genetic variants for multiple individual BSIT odours. Replication in independent and larger cohorts is needed.


Asunto(s)
Envejecimiento/fisiología , Percepción Olfatoria , Polimorfismo de Nucleótido Simple , Receptores Odorantes/genética , Olfato , Anciano , Anciano de 80 o más Años , Envejecimiento/genética , Femenino , Humanos , Masculino
2.
Int J Popul Data Sci ; 6(3): 1702, 2021.
Artículo en Inglés | MEDLINE | ID: mdl-35514443

RESUMEN

The Children's Data Network (CDN) is a data and research collaborative focused on the linkage and analysis of administrative records. In partnership with public agencies, philanthropic funders, affiliated researchers, and community stakeholders, we seek to generate knowledge and advance evidence-rich policies that improve the health, safety, and well-being of the children of California. Given our experience negotiating access to and working with existing administrative data (and importantly, data stewards), the CDN has demonstrated its ability to perform cost-effective and rigorous record linkage, answer time-sensitive policy- and program-related questions, and build the public sector's capacity to do the same. Owing to steadfast and generous infrastructure and project support, close collaboration with public partners, and strategic analyses and engagements, the CDN has promoted a person-level and longitudinal understanding of children and families in California and in so doing, informed policy and program development nationwide. We sincerely hope that our experience-and lessons learned-can advance and inform work in other fields and jurisdictions.


Asunto(s)
Política de Salud , Niño , Análisis Costo-Beneficio , Humanos , Desarrollo de Programa
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