scholarly journals Epigenome Wide Associations of Smoking Behavior in the Health and Retirement Study

2021 ◽  
Vol 5 (Supplement_1) ◽  
pp. 668-668
Author(s):  
Jonah Fisher ◽  
Helen Meier ◽  
Jessica Faul ◽  
Colter Mitchell ◽  
Eileen Crimmins ◽  
...  

Abstract DNA methylation (DNAm) is an increasingly popular biomarker of health and aging outcomes. Smoking behaviors have a significant and well documented correlation with methylation signatures within the epigenome and are important confounding variables to account for in epigenome-wide association studies (EWAS). However, the common classification of individuals as ‘current’, ‘former’, and ‘never’ smokers may miss crucial DNAm patterns associated with other smoking behaviors such as duration, intensity, and frequency of cigarette smoking, resulting in an underestimation of the contribution of smoking behaviors to DNAm and potentially biasing EWAS results. We investigated associations between multiple smoking behavioral phenotypes (smoking pack years, smoking duration, smoking start age, and smoking end age) and single site DNAm using linear regressions adjusting for age, sex, race/ethnicity, education, and cell-type proportions in a subsample of individuals who participated in the HRS 2016 Venous Blood Study (N=1,775). DNAm was measured using the Infinium Methylation EPIC BeadChip. All 4 phenotypes had significant associations (FDR < 0.05) with many methylation sites (packyears=6859, smoking duration=6572, start age=11374, quit age=773). There was not much overlap in DNAm sites between the full set of models with only 6 overlapping between all 4. However, the phenotypes packyears and smoking duration showed large overlap (N=3782). Results suggest additional smoking phenotypes beyond current/former/never smoker classification should be included in EWAS analyses to appropriately account for the influence of smoking behaviors on DNAm.

2018 ◽  
Author(s):  
Sailalitha Bollepalli ◽  
Tellervo Korhonen ◽  
Jaakko Kaprio ◽  
Miina Ollikainen ◽  
Simon Anders

AbstractSelf-reported smoking status is prone to misclassification due to under-reporting, while biomarkers like cotinine can only measure recent exposure. Smoking strongly influences DNA methylation, with current, former and never smokers exhibiting different methylation profiles. Recently, two approaches were proposed to calculate scores based on smoking-responsive DNA methylation loci, to serve as reliable indicators of long-term exposure and potential biomarkers to estimate smoking behavior. However, these two methodologies need significant improvements to make them globally applicable to all populations and to achieve an optimal classification of individuals with unknown smoking habits. To advance the practical applicability of the smoking-associated methylation signals, we used machine learning methodology to train a classifier for smoking status prediction. We show the prediction performance of our classifier on three independent whole-blood test datasets demonstrating its robustness and global applicability. Furthermore, we show the cross-tissue functionality of our classifier in tissues other than blood. Additionally, we provide the community with an R package, EpiSmokEr, facilitating implementation of our classifier to predict smoking status in future studies.


2020 ◽  
Vol 3 (152) ◽  
pp. 92-99
Author(s):  
S. M. Geiko ◽  
◽  
O. D. Lauta

The article provides a philosophical analysis of the tropological theory of the history of H. White. The researcher claims that history is a specific kind of literature, and the historical works is the connection of a certain set of research and narrative operations. The first type of operation answers the question of why the event happened this way and not the other. The second operation is the social description, the narrative of events, the intellectual act of organizing the actual material. According to H. White, this is where the set of ideas and preferences of the researcher begin to work, mainly of a literary and historical nature. Explanations are the main mechanism that becomes the common thread of the narrative. The are implemented through using plot (romantic, satire, comic and tragic) and trope systems – the main stylistic forms of text organization (metaphor, metonymy, synecdoche, irony). The latter decisively influenced for result of the work historians. Historiographical style follows the tropological model, the selection of which is determined by the historian’s individual language practice. When the choice is made, the imagination is ready to create a narrative. Therefore, the historical understanding, according to H. White, can only be tropological. H. White proposes a new methodology for historical research. During the discourse, adequate speech is created to analyze historical phenomena, which the philosopher defines as prefigurative tropological movement. This is how history is revealed through the art of anthropology. Thus, H. White’s tropical history theory offers modern science f meaningful and metatheoretically significant. The structure of concepts on which the classification of historiographical styles can be based and the predictive function of philosophy regarding historical knowledge can be refined.


2019 ◽  
Vol 26 (34) ◽  
pp. 6207-6221 ◽  
Author(s):  
Innocenzo Rainero ◽  
Alessandro Vacca ◽  
Flora Govone ◽  
Annalisa Gai ◽  
Lorenzo Pinessi ◽  
...  

Migraine is a common, chronic neurovascular disorder caused by a complex interaction between genetic and environmental risk factors. In the last two decades, molecular genetics of migraine have been intensively investigated. In a few cases, migraine is transmitted as a monogenic disorder, and the disease phenotype cosegregates with mutations in different genes like CACNA1A, ATP1A2, SCN1A, KCNK18, and NOTCH3. In the common forms of migraine, candidate genes as well as genome-wide association studies have shown that a large number of genetic variants may increase the risk of developing migraine. At present, few studies investigated the genotype-phenotype correlation in patients with migraine. The purpose of this review was to discuss recent studies investigating the relationship between different genetic variants and the clinical characteristics of migraine. Analysis of genotype-phenotype correlations in migraineurs is complicated by several confounding factors and, to date, only polymorphisms of the MTHFR gene have been shown to have an effect on migraine phenotype. Additional genomic studies and network analyses are needed to clarify the complex pathways underlying migraine and its clinical phenotypes.


2020 ◽  
Vol 21 (6) ◽  
pp. 466-470
Author(s):  
Emine Kandemis ◽  
Gulten Tuncel ◽  
Ozen Asut ◽  
Sehime G. Temel ◽  
Mahmut C. Ergoren

Background: The use of psychoactive substances is one of the most dangerous social problems worldwide. Nicotine dependence results from the interaction between neurobiological, environmental and genetic factors. Serotonin is a neurotransmitter that has a wide range of central nervous system activities. The serotonin transporter gene has been previously linked to psychological traits. Objective: A variable number of tandem repeats within the serotonin transporter-linked polymorphic gene region are believed to alter the transcriptional efficiency of the 5-HTT gene. Therefore, we aimed to investigate the association between this polymorphic site and smoking behavior in the Turkish Cypriot population. Methods: A total of 259 (100 smokers, 100 non-smokers and 59 ex-smokers) Turkish Cypriots were included in this population-based cross-sectional study. Genomic DNA was extracted from peripheral blood samples and the 5-HTTVNTR2 polymorphisms were determined by the PCR-RFLP. Results: The allelic frequency and genotype distribution results of this study showed a strong association (P<0.0001) between smokers and non-smokers. No statistical significance was found between non-smokers and ex-smokers. Conclusion: This is the first genetic epidemiology study to investigate the allelic frequencies of 5-HTTVNTR2 polymorphisms associated with smoking behavior in the Turkish Cypriot population. Based on the results of this study, genome-wide association studies should be designed for preventive medicine in this population.


2021 ◽  
Vol 8 (1) ◽  
pp. 144-155 ◽  
Author(s):  
Gizem Çakın ◽  
Ignatius Darma Juwono ◽  
Marc N. Potenza ◽  
Attila Szabo

Abstract Background and aims Exercise addiction may be conceptualized as a behavioral addiction in which a person develops an unhealthy obsession with exercise and physical activity. While exercise addiction is not a formally recognized disorder in the Diagnostic and Statistical Manual or the International Classification of Diseases, it has been studied and connected to both personal and situational factors. Perfectionism is a feature that has been strongly linked to exercise addiction. The objective of this systematic literature review, performed by following the PRISMA protocol, was to examine relationships between exercise addiction and perfectionism while also considering the subdimensions of perfectionism in different groups. Methods Three databases (PsycINFO, PubMed/Medline, and SPORTDiscus) were examined. Sixty relevant articles were identified, of which 22 met inclusion criteria. Results The findings substantiate that perfectionism and its dimensions are weakly or moderately related to exercise addiction. This relationship has been observed in adults, adolescents, athletes, and patients with eating disorders. Of the 22 studies examined, only one did not identify an association between perfectionism or its subdomain(s) and exercise addiction. However, in most studies, the common variance between perfectionism and exercise addiction is relatively small, raising questions regarding the clinical relevance of the relationship. Conclusion Perfectionism is related to exercise addiction, but the strength of the relationship varies in different circumstances, which should be examined in future research.


2019 ◽  
Vol 22 (6) ◽  
pp. 872-877 ◽  
Author(s):  
MacKenzie R Peltier ◽  
José M Flores ◽  
Philip H Smith ◽  
Walter Roberts ◽  
Terril L Verplaetse ◽  
...  

Abstract Introduction Current cigarette smoking rates among older women remain problematic, especially given that this population experiences increased smoking-related health consequences. Despite these increased health concerns, little research to date has explored smoking patterns across the menopausal transition (pre-, early-peri-, late-peri-, and postmenopausal) or the effect of unique factors such as sex hormones and depression during this transition. Methods This study used 10 yearly waves of data from the Study of Women’s Health Across the Nation, a longitudinal dataset. Data included 1397 women endorsing ever smoking regularly at baseline. Random-effects logistic regression models were used to examine smoking transitions. Results Although there were no associations between menopausal transition stage and smoking behavior, increased estradiol was associated with an increased likelihood of quitting regular smoking (eg, transitioning from regular smoking to non-regular or no smoking; odds ratio [OR] = 1.28), whereas increased testosterone was associated with an increased likelihood of relapsing to regular smoking (eg, transitioning from former or nonregular smoking to regular smoking OR = 2.56). Depression was associated with increased likelihood of continued smoking (OR = 0.97) and relapse (OR = 1.03). Conclusions The results emphasize the need to develop interventions to target initiated or continued smoking among women across the menopausal transition and specifically highlight the importance of developing treatments that target depressive symptoms in this population. In addition, although singular hormone measures were associated with smoking behavior, there is a need for future study of dynamic changes in hormones, as well as the impact of progesterone on smoking behaviors across the menopausal transition. Implications To date, no studies have examined smoking behaviors across the menopausal transition. In this study, although menopausal transition status was not significantly related to transitions in smoking behavior, important relationships between sex hormones and depression were observed. Increased estradiol was associated with an increased likelihood of quitting regular smoking, whereas increased testosterone was associated with an increased likelihood of relapsing to regular smoking behavior. Higher depression scores were related to continued smoking and relapse to regular smoking behavior. These results highlight the need to develop interventions to target smoking cessation among women across the menopausal transition.


Legal Studies ◽  
2001 ◽  
Vol 21 (2) ◽  
pp. 153-191 ◽  
Author(s):  
Joachim Dietrich

The common law has solved questions of liability arising in the context of precontractual negotiations by resort to a range of different doctrines and approaches, adopting in effect ‘piecemeal’ solutions to questions of precontractual liability. Consequently, debate has arisen as to how best to classify or categorise claims for precontractual work and as to which doctrines are best suited to solving problems arising from anticipated contracts. The purpose of this article is to consider this question of how best to classify (cases of) precontractual liability. The initial focus will be on the ongoing debate as to whether principles of contract law or principles of unjust enrichment can better solve problems of precontractual liability. I will be suggesting that unjust enrichment theory offers little by way of explanation of cases of precontractual liability and, indeed, draws on principles of contract law in determining questions of liability for precontractual services rendered, though it does so by formulating those principles under different guises. Irrespective, however, of the doctrines utilised by the common law to impose liability, it is possible to identify a number of common elements unifying all cases of precontractual liability. In identifying such common elements of liability, it is necessary to draw on principles of both contract and tort law. How, then, should cases of precontractual liability best be classified? A consideration of the issue of classification of precontractual liability from a perspective of German civil law will demonstrate that a better understanding of cases of precontractual liability will be gained by classifying such cases as lying between the existing categories of contract and tort.


Hand Surgery ◽  
2015 ◽  
Vol 20 (03) ◽  
pp. 336-342 ◽  
Author(s):  
Michael A. Tonkin ◽  
Kerby C. Oberg

The Oberg, Manske and Tonkin (OMT) Classification of congenital anomalies of the hand and upper limb uses dysmorphological terminology, placing conditions in one of three groups: Malformations, Deformations and Dysplasias. The main group, Malformations, is further subdivided according to whether the whole of the limb is affected or the hand plate alone, and whether the primary insult involves one of the three axes of limb development and patterning or is non-axial. The common surgical diagnoses, such as thumb duplication and thumb hypoplasia, are then placed within this framework. Recently the International Federation of Societies for Surgery of the Hand Scientific Committee for Congenital Conditions approved the OMT Classification as a timely and appropriate replacement of the previously accepted Swanson Classification. This review charts the development of and modifications to the OMT Classification and its current status.


Cancers ◽  
2021 ◽  
Vol 13 (10) ◽  
pp. 2423
Author(s):  
Marion Nicolas ◽  
Beatriz Grandal ◽  
Emma Dubost ◽  
Amyn Kassara ◽  
Julien Guerin ◽  
...  

Breast cancer (BC) is the most commonly diagnosed type of cancer and the leading cause of cancer deaths in women. Smoking is the principal modifiable risk factor for cancers and has a negative influence on long-term survival. We conducted a retrospective study on consecutive BC survivors seen at follow-up consultations between 3 June and 30 October 2019 at Institut Curie, Paris, France. Smoking behaviors were evaluated prospectively via interviewer-administered questionnaires. The aim of this study was to describe smoking-related patient care at diagnosis and smoking cessation patterns in women with a history of BC. A total of 1234 patients were included in the study. Smoking status at diagnosis was missing from electronic health records in 32% of cases, including 13% of patients who smoke. Only 20% of the 197 patients currently smoking at diagnosis recalled having a discussion about smoking with a healthcare professional. Radiotherapists and surgeons were more likely to talk about complications than other practitioners. The main type of information provided was general advice to stop smoking (n = 110), followed by treatment complications (n = 48), while only five patients were referred to tobaccologists. Since diagnosis, 33% (n = 65) of the patients currently smoking had quit. Patients who quit had a lower alcohol consumption, but no other factor was associated with smoking cessation. The main motivation for tobacco withdrawal was the fear of BC relapse (63%). This study highlights room for improvement in the assessment of smoking behavior. Our data raise important perspectives for considering BC treatment and follow-up as a window of opportunity for smoking cessation.


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