Publications by authors named "P Sebastiani"

Background: Recent studies have revealed a strong association between the e2 allele of the Apolipoprotein E ( gene and lipid metabolites. In addition, carriers appear to be protected from cognitive decline and Alzheimer's disease. This correlation supports the hypothesis that lipids may mediate the protective effect of on cognitive function, thereby providing potential targets for therapeutic intervention.

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Dupuytren Disease (DD) is a chronic progressive disease that can result in disabling hand deformities. The most common treatments have high rates of complications and early recurrence. Dupuytren lacks a staging biomarker profile to develop preventive therapeutics to improve long-term outcomes.

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Using whole-genome sequencing (WGS) might offer insights into rare genetic variants associated with healthy aging and extreme longevity (EL), potentially pointing to useful therapeutic targets. In this study, we conducted a genome-wide association study using WGS data from the Long Life Family Study and identified a novel longevity-associated variant rs6543176 in the SLC9A2 gene. This SNP also showed a significant association with reduced hypertension risk and an increased, though not statistically significant, cancer risk.

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Apolipoprotein E ( ) modifies human aging; specifically, the ε2 and ε4 alleles are among the strongest genetic predictors of longevity and Alzheimer's disease (AD) risk, respectively. However, detailed mechanisms for their influence on aging remain unclear. Herein, we analyzed inter-omic, context-dependent association patterns across genotypes, sex, and health axes in 2,229 community-dwelling individuals to test genotypes for variation in metabolites and metabolite-associations tied to a previously-validated metric of biological aging (BA) based on blood biomarkers.

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Metabolites that mark aging are not fully known. We analyze 408 plasma metabolites in Long Life Family Study participants to characterize markers of age, aging, extreme longevity, and mortality. We identify 308 metabolites associated with age, 258 metabolites that change over time, 230 metabolites associated with extreme longevity, and 152 metabolites associated with mortality risk.

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