Search results for "Trait"
showing 10 items of 1361 documents
Optimism and pessimism are related to different components of the stress response in healthy older people.
2015
Some personality traits have key importance for health because they can affect the maintenance and evolution of different disorders with a high prevalence in older people, including stress pathologies and diseases. In this study we investigated how two relevant personality traits, optimism and pessimism, affect the psychophysiological response of 72 healthy participants (55 to 76 years old) exposed to either a psychosocial stress task (Trier Social Stress Test, TSST) or a control task; salivary cortisol, heart rate (HR) and situational appraisal were measured. Our results showed that optimism was related to faster cortisol recovery after exposure to stress. Pessimism was not related to the …
Human longevity within an evolutionary perspective: The peculiar paradigm of a postreproductive genetics
2008
The data we collected on the genetics of human longevity, mostly resulting from studies on centenarians, indicate that: (1) centenarians and long-living sib-pairs are a good choice for the study of human longevity, because they represent an extreme phenotype, i.e., the survival tail of the population who escaped neonatal mortality, pre-antibiotic era illnesses, and fatal outcomes of age-related complex diseases. (2) The model of centenarians is not simply an additional model with respect to well-studied organisms, and the study of humans has revealed characteristics of ageing and longevity (geographical and sex differences, role of antigenic load and inflammation, role of mtDNA variants) wh…
Genetic signatures of centenarians: Implications for achieving successful aging
2019
The extraordinary rise in the old population in the Western world underscores the importance of studies on aging and longevity to decrease the medical, economic and social problems associated with the increased number of non-autonomous individuals affected by invalidating pathologies. Centenarians have reached the extreme limits of the human life span. They are the best example of extreme longevity, representing selected individuals in which the appearance of major age-related diseases has been consistently delayed or avoided. There is growing evidence that the genetic component of longevity becomes higher with survival at the age of over 90 years. For centenaries, it reaches up to 33% for…
Changes in blood pressure in a large cohort of elderly individuals: Study 3C
2009
Summary Objective Analysis of changes in blood pressure with a two-year interval, and of factors associated with this change, in a large cohort of elderly individuals. Methods Follow-up of a cohort of 9294 individuals aged 65 years and over recruited from the general population for Study 3C. Changes in blood pressure are defined as the difference in its averages between the inclusion visit and the follow-up visit at 2 years. The factors associated with changes in systolic blood pressure were identified by univariate and multivariate analyses. Results Systolic and diastolic blood pressure decreased on average by 7.60 mmHg and 4.45 mmHg respectively in 7659 individuals included in the study b…
Genome-wide association study identifies novel susceptibility loci for KIT D816V positive mastocytosis
2021
Mastocytosis is a rare myeloid neoplasm characterized by uncontrolled expansion of mast cells, driven in >80% of affected individuals by acquisition of the KIT D816V mutation. To explore the hypothesis that inherited variation predisposes to mastocytosis, we performed a two-stage genome-wide association study, analyzing 1,035 individuals with KIT D816V positive disease and 17,960 healthy control individuals from five European populations. After quality control, we tested 592,007 SNPs at stage 1 and 75 SNPs at stage 2 for association by using logistic regression and performed a fixed effects meta-analysis to combine evidence across the two stages. From the meta-analysis, we identified three …
Immune activation rapidly mirrored in a secondary sexual trait.
2003
A crucial assumption underlying most models of sexual selection is that sexual advertisements honestly reflect the phenotypic and/or genetic quality of their bearers ([1][1]). Here we show that experimental activation of the immune system is rapidly mirrored in the expression of a carotenoid-based
Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture
2012
Bone mineral density (BMD) is the most widely used predictor of fracture risk. We performed the largest meta-analysis to date on lumbar spine and femoral neck BMD, including 17 genome-wide association studies and 32,961 individuals of European and east Asian ancestry. We tested the top BMD-associated markers for replication in 50,933 independent subjects and for association with risk of low-trauma fracture in 31,016 individuals with a history of fracture (cases) and 102,444 controls. We identified 56 loci (32 new) associated with BMD at genome-wide significance (P < 5 × 10 -8). Several of these factors cluster within the RANK-RANKL-OPG, mesenchymal stem cell differentiation, endochondral…
MALE COURTSHIP SONG AND FEMALE PREFERENCE VARIATION BETWEEN PHYLOGEOGRAPHICALLY DISTINCT POPULATIONS OF DROSOPHILA MONTANA
2007
Understanding the variation within and between populations in important male mating traits and female preferences is crucial to theories concerning the origin of sexual isolation by coevolution or other processes. There have been surprisingly few studies on the extent of variation and covariation within and between populations, especially where the evolutionary relationships between populations are understood. Here we examine variation in female preferences and a sexually selected male song trait, the carrier frequency of the song, within and between populations from different phylogeographic clusters of Drosophila montana. Song is obligatory for successful mating in this species, and both …
Integrating genome-wide genetic variations and monocyte expression data reveals trans-regulated gene modules in humans.
2011
One major expectation from the transcriptome in humans is to characterize the biological basis of associations identified by genome-wide association studies. So far, few cis expression quantitative trait loci (eQTLs) have been reliably related to disease susceptibility. Trans-regulating mechanisms may play a more prominent role in disease susceptibility. We analyzed 12,808 genes detected in at least 5% of circulating monocyte samples from a population-based sample of 1,490 European unrelated subjects. We applied a method of extraction of expression patterns—independent component analysis—to identify sets of co-regulated genes. These patterns were then related to 675,350 SNPs to identify maj…
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational researc…
2019
Limited translational genomic research data have been reported on the application of exome sequencing and parallel gene testing for preconception carrier screening (PCS). Here, we present individual-level data from a large PCS program in which exome sequencing was routinely performed on either gamete donors (5,845) or infertile patients (8,280) undergoing in vitro fertilization (IVF) treatment without any known family history of inheritable genetic conditions. Individual-level data on pathogenic variants were used to define conditions for PCS based on criteria for severity, penetrance, inheritance pattern, and age of onset. Fetal risk was defined based on actual carrier frequency data accou…