Chipping away at the genetics of smoking behavior.
Ontology highlight
ABSTRACT:
SUBMITTER: Amos CI
PROVIDER: S-EPMC6375692 | biostudies-literature | 2010 May
REPOSITORIES: biostudies-literature
Publications
Chipping away at the genetics of smoking behavior.
Amos Christopher I CI Spitz Margaret R MR Cinciripini Paul P
Nature genetics 20100501 5
Three large consortia present comprehensive analyses that identify genetic factors influencing smoking initiation, intensity and cessation. The genetic architecture of these three phases of smoking behavior appears to be largely distinct. ...[more]
Similar Datasets
Project description:The coordinated regulation of gene expression in higher eukaryotes is complex and poorly understood. Recent technological advances have allowed the first insights into these networks on a genome-wide scale. These investigations have identified transcription factor target sites in the genome and successfully predicted cooperative interactions with other factors. However, a detailed understanding of the processes that coordinate gene expression remains elusive. Here, we highlight the advances that have been made using current methods, and the need for new technologies to address the gaps in our knowledge and to map these complex pathways further.
| S-EPMC2288763 | biostudies-literature
Project description:Although heritability of human body weight is assumed to be high, only a small fraction of the variance can as yet be attributed to molecular genetic factors. Single monogenic forms of obesity have been identified. Functionally relevant coding mutations in the melanocortin-4 receptor gene occur in 1-6% of extremely obese children and adolescents and thus represent the most common major gene effect. Genome-wide association studies (GWAS) had previously identified 14 obesity loci with genome-wide significant (p < 5 x 10-8) associations. Many of the respective genes are expressed in the central nervous system. The GIANT (Genetic Investigation of ANtropometric Traits) Consortium has now performed a meta-analysis of GWAS data based on 123,865 individuals of European ancestry followed by confirmatory analyses for the 42 best independent loci in up to 125,931 independent individuals (Speliotes et al: Association analyses of 249,796 individuals reveal eighteen new loci associated with body mass index. Nature Genetics; epub October 2010 [1]). Apart from confirming the 14 known loci, 18 novel BMI-associated loci (p < 5 x 10-8) were identified. Several of the new loci point to genes involved in key hypothalamic pathways of energy balance. The identified variants mostly have small to very small effect sizes; only 1-2% of the BMI variance is explained. Currently, a consensus explanation for this 'missing heritability' in complex diseases has not yet emerged.
| S-EPMC6452141 | biostudies-literature
Project description: Not available
| S-EPMC4539957 | biostudies-literature
Project description:Regular smoking is the major risk factor for cardiovascular disease and cancers, and thus is one of the most preventable causes of morbidity and mortality worldwide. Intake of nicotine, its central nervous system effects, and its metabolism are regulated by biological pathways; some of these are well known, but others are not. Genetic studies offer a method for developing insights into the genes contributing to those pathways. In recent years, large genome-wide association study (GWAS) meta-analyses have consistently revealed that the strongest genetic contribution to smoking-related traits comes from variation in the nicotinic receptor subunit genes. Many other genes, including those coding for enzymes involved in nicotine metabolism, also have been implicated. However, the proportion of phenotypic variance explained by the identified genetic variants is very modest. This review intends to cover progress made in genetics and genetic epidemiology of smoking behavior in recent years, and focuses on studies revealing the nicotinic receptor gene cluster on chromosome 15q25. Evidence supporting the involvement of a novel pathway in the shared pathophysiology of nicotine dependence and schizophrenia is also briefly reviewed. A summary of the current knowledge on gene-environment interactions involved in smoking behavior is included.
| S-EPMC4000030 | biostudies-literature
Project description:For cooperation to evolve, some mechanism must limit the rate at which cooperators are exposed to defectors. Only then can the advantages of mutual cooperation outweigh the costs of being exploited. Although researchers widely agree on this, they disagree intensely about which evolutionary mechanisms can explain the extraordinary cooperation exhibited by humans. Much of the controversy follows from disagreements about the informational regularity that allows cooperators to avoid defectors. Reliable information can allow cooperative individuals to avoid exploitation, but which mechanisms can sustain such a situation is a matter of considerable dispute. We conducted a behavioral experiment to see if cooperators could avoid defectors when provided with limited amounts of explicit information. We gave each participant the simple option to move away from her current neighborhood at any time. Participants were not identifiable as individuals, and they could not track each other's tendency to behave more or less cooperatively. More broadly, a participant had no information about the behavior she was likely to encounter if she moved, and so information about the risk of exploitation was extremely limited. Nonetheless, our results show that simply providing the option to move allowed cooperation to persist for a long period of time. Our results further show that movement, even though it involved considerable uncertainty, allowed would-be cooperators to assort positively and eliminate on average any individual payoff disadvantage associated with cooperation. This suggests that choosing to move, even under limited information, can completely reorganize the mix of selective forces relevant for the evolution of cooperation.
| S-EPMC4699639 | biostudies-literature
Project description:Why we sleep remains one of the greatest mysteries in science. In the past few years, great advances have been made to better understand this phenomenon. Human genetics has contributed significantly to this movement, as many features of sleep have been found to be heritable. Discoveries about these genetic variations that affect human sleep will aid us in understanding the underlying mechanism of sleep. Here we summarize recent discoveries about the genetic variations affecting the timing of sleep, duration of sleep and EEG patterns. To conclude, we also discuss some of the sleep-related neurological disorders such as Autism Spectrum Disorder (ASD) and Alzheimer's Disease (AD) and the potential challenges and future directions of human genetics in sleep research.
| S-EPMC5511083 | biostudies-literature
Project description:BackgroundThe smoking behavior of American Indians (AI) differs from that of non-Hispanic whites (NHW). Typically light smokers, cessation interventions in AIs are generally less effective. To develop more effective cessation programs for AIs, clinicians, researchers, and public health workers need a better understanding of the genetic factors involved in their smoking behavior. Our aim was to assess whether SNPs associated with smoking behavior in NHWs are also associated with smoking in AIs.MethodsWe collected questionnaire data on smoking behaviors and analyzed blood and saliva samples from two Tribal populations with dramatically different cultures and smoking prevalence, one in the Northern Plains (n = 323) and the other in the Southwest (n = 176). A total of 384 SNPs were genotyped using an Illumina custom GoldenGate platform. Samples were also assessed for cotinine and 3-hydroxycotinine as markers of nicotine intake and nicotine metabolite ratio.ResultsAmong 499 participants, we identified, in the Northern Plains sample only, a variant of the gamma-aminobutyric acid receptor subunit alpha-2 (GABRA2) (rs2119767) on chromosome 4p that was associated with many of the intake biomarkers of smoking we examined, suggesting a role for this gene in modifying smoking behavior in this population. We also identified three SNPs, in the Southwest sample only, as significant correlates of only cigarettes per day: rs4274224, rs4245147 (both dopamine receptor D2 gene), and rs1386493 (tryptophan hydroxylase 2 gene).ConclusionsThe contribution of many genes known to underlie smoking behaviors in NHWs may differ in AIs.ImpactOnce validated, these variants could be useful in developing more effective cessation strategies.
| S-EPMC8597394 | biostudies-literature
Project description:ObjectiveThe applicability of the edge chipping method to denture tooth materials was assessed. These are softer materials than those usually tested by edge chipping. The edge chipping fracture resistances of polymethylmethacrylate (PMMA) based and two filled resin composite denture tooth materials were compared.MethodsAn edge chipping machine was used to chip rectangular blocks and flattened anterior denture teeth. Force versus edge distance data were collected over a broad range of forces and distances. Between 20 and 65 chips were made per condition depending upon the material, the scatter, and the indenter type. Different indenter types were used including Rockwell C, sharp conical 120(o), Knoop, and Vickers. The edge toughness, Te, was evaluated for different indenter types.ResultsThe edge chipping data collected on the blocks matched the data collected from flattened teeth. High scatter, particularly at large distances and loads, meant that many tests (up to 64) were necessary to compare the denture tooth materials and to ascertain the appropriate data trends. A linear force-distance trend analysis was adequate for comparing these materials. A power law trend might be more appropriate, but the large scatter obscured the definitive determination of the precise trend. Different indenters produce different linear trends, with the ranking of: sharp conical 120(o), Rockwell C, and Knoop, from lowest to highest edge toughness. Vickers indenter data were extremely scattered and a sensible trend could not be obtained. Edge toughness was inversely correlated to hardness.SignificanceEdge chipping data collected either from simple laboratory scale test blocks or from actual denture teeth may be used to evaluate denture materials. The edge chipping method's applicability has been extended to another class of restorative materials.
| S-EPMC4084649 | biostudies-literature
Project description:Behavior genetics is the study of the relationship between genetic variation and psychological traits. Turkheimer (2000) proposed "Three Laws of Behavior Genetics" based on empirical regularities observed in studies of twins and other kinships. On the basis of molecular studies that have measured DNA variation directly, we propose a Fourth Law of Behavior Genetics: "A typical human behavioral trait is associated with very many genetic variants, each of which accounts for a very small percentage of the behavioral variability." This law explains several consistent patterns in the results of gene discovery studies, including the failure of candidate gene studies to robustly replicate, the need for genome-wide association studies (and why such studies have a much stronger replication record), and the crucial importance of extremely large samples in these endeavors. We review the evidence in favor of the Fourth Law and discuss its implications for the design and interpretation of gene-behavior research.
| S-EPMC4635473 | biostudies-literature
Project description:Although much is known about smoking cessation behavior, the vast majority of research has not assessed menthol as an independent factor. The objective of this review is to assess the effects, if any, that use of menthol cigarettes has on smoking cessation success in adults and youth. A total of 20 articles are included in this review. Although some studies have found that menthol smokers have less success in quitting smoking, others fail to find significant differences between menthol and non-menthol smokers. Some clinical trials evaluating the efficacy of various cessation treatments have suggested that menthol smokers have poorer outcomes, however two secondary data analysis studies (which used the same original dataset) failed to find any difference in success rate associated with particular treatments. Although there is some suggestion that smoking menthol cigarettes is associated with worse cessation outcomes, differences are not always found. However, if there was a difference, it was always in the direction of worse outcomes for menthol smokers. Given that Black/African American smokers prefer menthol cigarettes more than White smokers, possible interactions with race/ethnicity are discussed.
| S-EPMC3102905 | biostudies-other