Search results for "determinism"
showing 10 items of 88 documents
What Future for the Concept of Culture in the Social Sciences?
2017
International audience
Origin of Life, Theories Of
2017
Modern advances in biology, geology, chemistry, and astronomy have allowed us to elaborate models and hypotheses on the origin of life on Earth within the framework of the evolutionary theory. About four billion years ago, a rich inventory of organic compounds accumulated on the planet, as a product of volcanic, atmospheric, and cosmic chemistry. As chemical systems became increasingly more complex, a critical point was reached with the appearance of self-replicative polymers. This marks the possibility of optimizing abiotic systems by natural selection and historical contingency, which were added to the determinism of abiotic chemistry. A landmark of the origin of life was the articulation…
Genome-wide Association Study of Alcohol Dependence
2009
Context Alcohol dependence is a serious and common public health problem. It is well established that genetic factors play a major role in the development of this disorder. Identification of genes that contribute to alcohol dependence will improve our understanding of the mechanisms that underlie this disorder. Objective To identify susceptibility genes for alcohol dependence through a genome-wide association study (GWAS) and a follow-up study in a population of German male inpatients with an early age at onset. Design The GWAS tested 524 396 single-nucleotide polymorphisms (SNPs). All SNPs with P −4 were subjected to the follow-up study. In addition, nominally significant SNPs from genes t…
Increased prevalence of autoimmune diseases in first-degree relatives of patients with celiac disease.
2003
The prevalence of autoimmune disorders is increased in patients with celiac disease (CD), and it is unknown whether their first-degree relatives also have a high risk of autoimmune disorders.To assess the prevalence of autoimmune diseases in first-degree relatives of CD patients, the authors looked for autoimmune disorders in 225 first-degree relatives of 66 children with CD (group A) and in 232 first-degree relatives of 68 healthy children (group B). For both groups, serologic screening for CD was performed through antiendomysium (EMA) and tissue transglutaminase autoantibodies (tTGAA). EMA- and tTGAA-positive subjects were offered an intestinal biopsy. The age at onset of autoimmune disea…
Familial hemiplegic migraine type 2 is linked to 0.9Mb region on chromosome 1q23
2003
Familial hemiplegic migraine (FHM) is a rare autosomal dominant disorder characterized by episodes of transient hemiparesis followed by headache. Two chromosomal loci are associated to FHM: FHM1 on chromosome 19 and FHM2 on chromosome 1q21-23. Mutations of the alpha-1A subunit of the voltage gated calcium channel (CACNA1A) are responsible for FHM1. FHM2 critical region spans 28 cM, hence hampering the identification of the responsible gene. Here, we report the FHM2 locus refining by linkage analysis on two large Italian families affected by pure FHM. The new critical region covers a small area of 0.9Mb in 1q23 and renders feasible a positional candidate approach. By mutation analysis, we ex…
The role of IL-1 gene cluster in longevity: a study in Italian population.
2003
In this study, we analysed the polymorphic variants of IL-1alpha (C-T transition at position -889), IL-1beta (C-T transition at position -511) and IL-1 receptor antagonist (Ra) (86-bp repeated sequence in intron 2) in 1131 subjects (453 females and 678 males) from Northern and Central Italy, including 134 centenarians, to evaluate whether IL-1 cluster alleles might be differently represented in people selected for longevity. In addition, IL-1Ra and IL-1beta plasma levels were quantified by ELISA in 130 randomly selected subjects. No significant differences in the genotype and allele frequency distributions were observed between young, elderly and centenarian subjects. IL-1Ra plasma levels s…
Overcommitment as a predictor of effort-reward imbalance: evidence from an 8-year follow-up study.
2016
Objective The effort–reward imbalance (ERI) model includes the personal characteristic of overcommitment (OC) and the job-related characteristics of effort, reward, and ERI, all of which are assumed to play a role in an employee’s health and well-being at work. The aim of the present longitudinal study was to shed more light on the dynamics of the ERI model by investigating the basic hypotheses related to the role of OC in the model, ie, to establish whether an employee’s OC could be a risk factor for an increased experience of high effort, low reward, and high ERI at work. Methods The study was based on 5-wave, 8-year follow-up data collected among Finnish professionals in 2006 (T1, N=747)…
Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease
2011
1. The CARDIoGRAM Consortium. Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease. Nature Genetics. 2011;43:333–338. ### Study Hypothesis Recently, genome-wide association studies (GWAS) have identified several common variants that are associated with risk of coronary artery disease (CAD) and myocardial infarction (MI). The authors state that the current loci discovered in CAD and MI GWAS explain only a small fraction of the heritability of this complex disease. The authors hypothesized that a larger study would provide more power to discover common variants with modest effect sizes. Therefore, they formed the Coronary ARtery DIsease Genome-wid…
Parental monitoring moderates the importance of genetic and environmental influences on adolescent smoking.
2007
Although there is a substantial literature on the role of parenting in adolescent substance use, most parenting effects have been small in magnitude and studied outside the context of genetically informative designs, raising debate and controversy about the influence that parents have on their children (D. C. Rowe, 1994). Using a genetically informative twin-family design, the authors studied the role of parental monitoring on adolescent smoking at age 14. Although monitoring had only small main effects, consistent with the literature, there were dramatic moderation effects associated with parental monitoring: At high levels of parental monitoring, environmental influences were predominant …
Autosomal recessive hypercholesterolemia in a Sicilian kindred harboring the 432insA mutation of the ARH gene
2003
Abstract We describe a Sicilian family presenting a recessive form of hypercholesterolemia harboring a mutation of the autosomal recessive hypercholesterolemia (ARH) gene. In two of the three sibs, a 26-year-old male and a 22-year-old female, a severe hypercholesterolemia was diagnosed with very high levels of plasma cholesterol (15.9 and 12.2 mmol/l, respectively); tendon xanthomatas and xanthelasms were present and in the male proband was documented a diffuse coronary atherosclerotic disease with a rapid and fatal progression. Both the parents had normal or slightly increased levels of plasma cholesterol. All causes of secondary hypercholesterolemia were ruled out as well as an involvemen…