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At least 685 records · Page 38Linked to original sources
PubMed2003

[Epidemiology of chronic obstructive pulmonary disease].

Chronic obstructive pulmonary disease (COPD) is an important cause of morbidity and mortality, all over the world. COPD, which was the sixth leading cause of death worldwide in 1990, will become the third one in 2020. COPD is a complex disease, influenced by genetic, behavioral, and environmental factors. The most important factor for developing COPD is tobacco smoke. Also environmental conditions represents risk for developing COPD. Furthermore, diet and a low socioeconomic status are correlated to the disease. Genetic factors, familial history, and childhood lower respiratory tract infections play an important role in the etiology of COPD. Burden of COPD is very high for community. Furthermore, the disease often is under-diagnosed and treated only at advanced stages, whilst it is a substantial health problem even among young adults. This needs to be taken into account by health personnel and decision-makers.

Adult↗
PubMedDate not supplied

Inheritance of fragile X syndrome: an hypothesis.

The fragile X (fra(X), or Martin Bell-MB) syndrome is considered an X-linked recessive trait. However, clinically normal male transmitters of the condition have been observed occasionally. The occurrence of "carrier" males and the observation of other unusual genetic characteristics in the MBS suggest that this condition is not a standard X-linked recessive trait. We propose that the MBS is due to a transposable genetic element which can exist in 3 different chromosomal states and effect 2 different extrachromosomal environments. This model can account for the peculiar genetic behavior of the fragile X syndrome.

DNA Transposable Elements↗
PubMed2005

Sources of covariation among the child-externalizing disorders: informant effects and the shared environment.

BACKGROUND: Research has documented high levels of co-morbidity among childhood externalizing disorders, but its etiology remains in dispute. Specifically, although all behavior genetic studies of the etiology of the co-occurrence of attention deficit-hyperactivity disorder (ADHD), oppositional defiant disorder (ODD), and conduct disorder (CD) agree that genetic factors are important, differences exist across studies in the relative weight assigned to genetic, shared environmental factors (i.e. factors that increase similarity among family members), and non-shared environmental factors (i.e. factors that decrease similarity among family members). Because heritability estimates can vary across informants, we used a biometric informant-effects model to determine whether these discrepancies were a function of systematic differences in maternal and child informant reports of ADHD, CD, and ODD. METHOD: We studied 1782 11-year-old twins from the Minnesota Twin Family Study. Symptom counts for each disorder were obtained from interviews administered to twins and their mothers. We fit a model that allowed us to examine, both across and within informants, the genetic and environmental contributions to the co-occurrence among ADHD, CD, and ODD. RESULTS: The results revealed that the co-occurrence among the disorders common to maternal and child informant reports was influenced largely by shared environmental forces. Genetic factors also contributed, though their impact was only marginally significant. In contrast, the co-occurrence unique to each informant was influenced exclusively by either genetic or non-shared environmental factors. CONCLUSIONS: Such findings offer additional evidence that shared environmental factors are important to the co-morbidity among ADHD, CD, and ODD, and highlight the necessity of considering informant effects when drawing conclusions about the origins of co-morbidity from analyses of genetically informative data.

Attention Deficit Disorder with Hyperactivity↗
PubMed2003

On the heritability of job satisfaction: the mediating role of personality.

In this article the authors investigate the extent to which traits reflecting individual differences in personality and affectivity explain or mediate genetic influences on job satisfaction. Using estimates of the dispositional source of job satisfaction according to 2 dispositional frameworks--the five-factor model and positive affectivity-negative affectivity (PA-NA)--and behavioral-genetic estimates of the heritabilities of job satisfaction and the dispositional factors, the authors computed the proportion of genetic variance in job satisfaction that is explained by these trait frameworks. Results indicate that the affectivity model is a stronger mediator of genetic effects on job satisfaction than the five-factor model. PA and NA mediate about 45% of the genetic influences on job satisfaction, whereas the five-factor model mediates approximately 24% of these genetic effects.

Affect↗
PubMed2005

Genetic and environmental influences on conduct disorder: symptom, domain and full-scale analyses.

BACKGROUND: We used variable threshold models which accounted for age and gender differences to investigate the genetic and environmental influences on DSM-IV conduct disorder (CD) at the level of symptoms, aggressive versus non-aggressive domains, and full-scale. METHOD: A community sample of 1100 twin pairs (age 11-18) was interviewed using the Diagnostic Interview Schedule for Children. RESULTS: Behavior genetic model fitting suggested that genetic and environmental influences on individual symptoms varied by symptom. The best-fitting models for aggressive and non-aggressive domains, and full-scale CD included additive genetic effects and unique environmental effects only (AE models). These effects could be constrained across age cohorts and sex. The results suggest that using models that incorporate age- and gender-appropriate thresholds specific to each subject we can account for prevalence differences between cohorts. Heritability estimates were .49, .55 and .53 for the aggressive domain, non-aggressive domain, and full-scales, respectively. These results are in contrast to previous research on antisocial behavior measured with the CBCL reporting higher heritability for aggressive versus non-aggressive domains. CONCLUSIONS: Results suggest that individual symptoms of CD may be differentially heritable. Additionally, CD assessed using DSM-IV criteria may show differing patterns of heritability compared with estimates obtained for other measures of antisocial behavior such as the CBCL.

Adolescent↗
PubMed2004

Do physicians tailor their recommendations for breast cancer risk reduction based on patient's risk?

OBJECTIVE: To investigate how physicians tailor their recommendations for breast cancer prevention and risk reduction. DESIGN: Cross-sectional, mail survey. PARTICIPANTS: Random sample of primary care physicians in California (N = 822). MEASUREMENTS AND MAIN RESULTS: Six standardized patient scenarios were used to assess how women's breast cancer risk factors influence physicians' recommendations for screening mammography, counseling about lifestyle behaviors, genetic testing, the use of tamoxifen, prophylactic surgery, and referral to a breast specialist. Over 90% of physicians endorsed mammography for all of the scenarios. Similarly, approximately 80% of physicians endorsed counseling about lifestyle factors for all of the scenarios. Five-year risk of developing breast cancer and family history were both strongly associated with each of the 6 recommendations. Importantly, however, physicians were more likely to endorse the discussion of genetic testing, the use of tamoxifen, and prophylactic surgery for women with a family history of breast cancer compared with women at a higher risk of developing breast cancer but without a family history. Obstetrician-gynecologists were more likely to endorse most of these practices compared with internists. CONCLUSIONS: Mammography and counseling about lifestyle behaviors are widely endorsed by physicians for breast cancer prevention and risk reduction. Whereas physicians are generally able to tailor their recommendations for prevention and risk reduction based on risk, they may perhaps underutilize genetic evaluation and newer therapeutic options for primary prevention for women who are at high risk of developing breast cancer but do not have a family history.

Adult↗
PubMed2003

Short-term selection for the interaction between S-propranolol and ethanol in mice.

BACKGROUND: We have previously demonstrated that there is an interaction between S-propranolol, a beta-adrenergic blocking agent, and ethanol on the hypnotic sensitivity of inbred short- and long-sleep mice (ISS and ILS). We found that the interaction was due to an additive hypothermic effect of ethanol and S-propranolol that markedly decreased the disappearance rate of ethanol. There was no discernible effect of S-propranolol on the hypnotic actions of ethanol as evidenced by the waking blood ethanol levels. Because ISS mice were more sensitive to this effect than were ILS mice, it seemed that there was a genetic effect to the response. Therefore, we carried out a short-term breeding project to determine whether the response could be selectively bred. METHODS: We used the heterogeneous stock of mice from the Institute for Behavioral Genetics to carry out the selection study. The index for selection was the difference in sleep time between the same animal treated with propranolol and ethanol versus treatment with saline and ethanol at least 1 week apart. RESULTS: In four generations, we were able to achieve separation between mice with a large difference in sleep time (high line) from those with a smaller difference in sleep (low line) time. There was no difference between the average blood ethanol at awakening in the high line versus the low line. The effect was not due to a difference in rate of propranolol metabolism between the two lines. Sleep time with ethanol alone was not different between the high and low lines. CONCLUSIONS: The magnitude of the interaction between ethanol and S-propranolol is controlled by alleles with polymorphisms present in the HS stock of mice. The response is most likely due to a difference in the mechanisms of thermogenesis controlled by the beta-adrenergic receptors in muscle and fat. Because there were no sleep time differences between the high and low lines given ethanol alone, central nervous system sensitivity to ethanol is not a correlated response to the selection.

Animals↗
PubMed2024

Variants in HCFC1 and MN1 genes causing intellectual disability in two Pakistani families.

BACKGROUND: Intellectual disability (ID) is a neurodevelopmental condition affecting around 2% of children and young adults worldwide, characterized by deficits in intellectual functioning and adaptive behavior. Genetic factors contribute to the development of ID phenotypes, including mutations and structural changes in chromosomes. Pathogenic variants in the HCFC1 gene cause X-linked mental retardation syndrome, also known as Siderius type X-linked mental retardation. The MN1 gene is necessary for palate development, and mutations in this gene result in a genetic condition called CEBALID syndrome. METHODS: Exome sequencing was used to identify the disease-causing variants in two affected families, A and B, from various regions of Pakistan. Affected individuals in these two families presented ID, developmental delay, and behavioral abnormalities. The validation and co-segregation analysis of the filtered variant was carried out using Sanger sequencing. RESULTS: In an X-linked family A, a novel hemizygous missense variant (c.5705G > A; p.Ser1902Asn) in the HCFC1 gene (NM_005334.3) was identified, while in family B exome sequencing revealed a heterozygous nonsense variant (c.3680 G > A; p. Trp1227Ter) in exon-1 of the MN1 gene (NM_032581.4). Sanger sequencing confirmed the segregation of these variants with ID in each family. CONCLUSIONS: The investigation of two Pakistani families revealed pathogenic genetic variants in the HCFC1 and MN1 genes, which cause ID and expand the mutational spectrum of these genes.

Humans↗
PubMed1992

latheo, a new gene involved in associative learning and memory in Drosophila melanogaster, identified from P element mutagenesis.

Genetic dissection of learning and memory in Drosophila has been limited by the existence of ethyl methanesulfonate (EMS)-induced mutations in only a small number of X-linked genes. To remedy this shortcoming, we have begun a P element mutagenesis to screen for autosomal mutations that disrupt associative learning and/or memory. The generation of "P-tagged" mutant alleles will expedite molecular cloning of these new genes. Here, we describe a behavior-genetic characterization of latheoP1, a recessive, hypomorphic mutation of an essential gene. latheoP1 flies perform poorly in olfactory avoidance conditioning experiments. This performance deficit could not be attributed to abnormal olfactory acuity or shock reactivity-two task-relevant "peripheral" behaviors which are used during classical conditioning. Thus, the latheoP1 mutation appears to affect learning/memory specifically. Consistent with chromosomal in situ localization of the P element insertion, deficiencies of the 49F region of the second chromosome failed to complement the behavioral effect of the latheoP1 mutation. Further complementation analyses between latheoP1 and lethal alleles, produced by excision of the latheoP1 insert or by EMS or gamma-rays, in the 49F region mapped the latheo mutation to one vital complementation group. Flies heterozygous for latheoP1 and one of two EMS lethal alleles or one lethal excision allele also show the behavioral deficits, thereby demonstrating that the behavioral and lethal phenotypes co-map to the same locus.

Animals↗
PubMed2003

From transcriptional regulation to aggressive behavior.

Gene expression in higher organisms, is, to a large degree, controlled at the level of transcription, where DNA-binding proteins (transcription factors) play an influential role in gene regulation. This is achieved through various mechanisms, including those that involve silencer and enhancer regions. Variation in those regulatory regions, as well as in the genes encoding the transcription factors, has been shown to generate functional effects at the molecular, cellular, and neurobehavioral levels. The aim of the present paper is two-fold. First, for the sake of clarity and to reintroduce the terminology to Behavior Genetics readers, we review the concepts of gene structure, gene expression, and gene regulation. Second, using distinct bioinformatic tools, we set out to identify transcription factors that could be involved in the transcriptional regulation of genes known to be associated with aggressive behavior in mice. The results of this in silico study reveal common putative transcription factor binding sites among the set of genes investigated (especially for SRY), suggesting similar molecular transcriptional mechanisms.

Aggression↗
PubMed2004

Genetic and environmental influences on marital relationships.

As most adults will marry at least once during their lifetime, studying marital quality and its predictors is of great importance. The current study addresses (a) the extent of agreement between husbands and wives on their marital quality, (b) genetic and environmental sources of individual differences on spouse reports of marital quality, and (c) the extent to which genetic and environmental influences account for overlap of spouse reports on marital quality. Adult Swedish twin women and their partners participated in this study. Genotype-environment (GE) correlations were found for marital quality, suggesting that wives' genetically influenced characteristics set a tone for the marriage. Wives' genetically influenced characteristics also accounted for overlap of spouse reports of marital quality. Finally, nonshared environmental influences were the primary contributor to both individual reports and the overlap of spouse reports, an interesting deviation from findings of behavior genetic studies of other types of relationships.

Adult↗
PubMed2003

Biocultural orchestration of developmental plasticity across levels: the interplay of biology and culture in shaping the mind and behavior across the life span.

The author reviews reemerging coconstructive conceptions of development and recent empirical findings of developmental plasticity at different levels spanning several fields of developmental and life sciences. A cross-level dynamic biocultural coconstructive framework is endorsed to understand cognitive and behavioral development across the life span. This framework integrates main conceptions of earlier views into a unifying frame, viewing the dynamics of life span development as occurring simultaneously within different time scales (i.e., moment-to-moment microgenesis, life span ontogeny, and human phylogeny) and encompassing multiple levels (i.e., neurobiological, cognitive, behavioral, and sociocultural). Viewed through this metatheoretical framework, new insights of potential interfaces for reciprocal cultural and experiential influences to be integrated with behavioral genetics and cognitive neuroscience research can be more easily prescribed.

Aging↗
PubMed1997

Genes and politics.

Explore the source record for details and available documents.

Biological Evolution↗
PubMed2005

Understanding the covariation among childhood externalizing symptoms: genetic and environmental influences on conduct disorder, attention deficit hyperactivity disorder, and oppositional defiant disorder symptoms.

Conduct disorder (CD), attention deficit hyperactivity disorder (ADHD), and oppositional defiant disorder (ODD) are common childhood externalizing disorders that frequently co-occur. However, the causes of their comorbidity are not well understood. To address that question, we analyzed data from >600 Finnish twin pairs, who completed standardized interviews at age 14. Behavior genetic methods were used to examine how genetic/environmental factors contribute to each disorder's symptoms and to their covariation. We found significant genetic effects on each disorder with only modest evidence of shared environmental influences. Our data suggest the comorbidity among CD, ADHD, and ODD is primarily explained by shared genetic influences; however, each disorder was also under unique genetic influence, supporting the distinction of each disorder.

Adolescent↗
PubMed2004

Pathologic fear conditioning and anorexia nervosa: on the search for novel paradigms.

Although eating disorders have been the focus of an unprecedented explosion of clinical interest in recent years, the etiology of anorexia nervosa remains elusive. It is hypothesized that an underlying causative mechanism involves a propensity to extreme fear conditioning and greater than normal resistance to its extinction. Knowledge accrued from recent behavioral, genetic, and neuroanatomic research on anxiety may yield further insight into the pathogenesis of anorexia nervosa, which can be subjected to experimental validation using objective measures of classical fear conditioning and functional neuroimaging of brain structures mediating fear behavior.

Adolescent↗
PubMed2004

Pedophilia: neuropsychological evidence encouraging a brain network perspective.

Although the vast majority of current pathogenetic theories support a neurobiological understanding of psychiatric disorders, the brain functional correlates of pedophilia are largely unknown. Based on prior behavior genetics research on human sexual orientation and phenomenology as well as the phenotypical intersection of pedophilia with other psychiatric spectrum disorders, we hypothesize the involvement of striato-thalamo-cortical processing loops in the formation of pedophilic urges and behaviors. Data from a current neuropsychological pilot study in four pedophiles encourage our brain functional perspective. As deduced from the network model, all four patients exhibited pronounced and circumscribed deficits in cognitive domains mediated by striato-thalamically controlled areas of the frontal cortex. All patients were especially impaired in neuropsychological functions associated with the prefrontal and motor processing loops (e.g., response inhibition, working memory and cognitive flexibility), with a performance level located up to five standard deviations below the normative data. Contrary to this, neuropsychological performances in cognitive domains without a comparable high frontal loading were in all participants unobtrusive. In future, studying gene by environment interactions in combination with functional neuroimaging and neuropsychological assessment is promising to elucidate the pathophysiological relationship of psychiatric disorders that are characterized by inadequate urges and poor behavioral inhibition.

Adult↗