Are genes coding for dopamine receptors implicated in alcoholism?

1994 ◽  
Vol 9 (2) ◽  
pp. 63-69 ◽  
Author(s):  
P Gorwood ◽  
J Ades ◽  
J Feingold
Keyword(s):  
Alcohol Abuse ◽  
Alcohol Dependence ◽  
Genetic Factors ◽  
Association Studies ◽  
Specific Pattern ◽  
Linkage Studies ◽  
Vulnerability Factors ◽  
Genetic Vulnerability ◽  
The Moment ◽  
Familial Factor

SummaryPart of the familial factor of alcoholism is associated with the existence of genetic vulnerability. Genetic factors which interact with the pathogenesis of alcoholism are nevertheless complex, partial and for the moment partly unknown at the biological level. Recently, many association studies have been published concerning alcohol-dependence and genes coding for the second dopamine receptor. These associations, which have had positive replications, raise many questions. First of all, should the inheritance of alcoholism be regarded as a definitive fact? Secondly what is inherited? It could be alcoholism in general, a component of this disease (for instance, dependence on, sensitivity to or the seeking-process for alcohol), a specific pattern of drinking, presence of complications linked to alcohol abuse, or more general features, common to many addiction diseases. Thirdly, how could dopamine be linked to alcoholism? Furthermore, how should these positive associations be considered, given that two of these studies were negative, and that all linkage studies were negative. Lastly, are there other clues and ways of finding genetic vulnerability factors for alcohol abuse?

scholarly journals Genetic Determinants of Paget’s Disease of Bone

2021 ◽  
Author(s):  
Navnit S. Makaram ◽  
Stuart H. Ralston
Keyword(s):  
Genetic Factors ◽  
Association Studies ◽  
Paget’S Disease ◽  
Paget's Disease ◽  
Paget’S Disease Of Bone ◽  
Genome Wide Association Studies ◽  
Paget's Disease Of Bone ◽  
Genome Wide ◽  
Family Based

Abstract Purpose of Review To provide an overview of the role of genes and loci that predispose to Paget’s disease of bone and related disorders. Recent Findings Studies over the past ten years have seen major advances in knowledge on the role of genetic factors in Paget’s disease of bone (PDB). Genome wide association studies have identified six loci that predispose to the disease whereas family based studies have identified a further eight genes that cause PDB. This brings the total number of genes and loci implicated in PDB to fourteen. Emerging evidence has shown that a number of these genes also predispose to multisystem proteinopathy syndromes where PDB is accompanied by neurodegeneration and myopathy due to the accumulation of abnormal protein aggregates, emphasising the importance of defects in autophagy in the pathogenesis of PDB. Summary Genetic factors play a key role in the pathogenesis of PDB and the studies in this area have identified several genes previously not suspected to play a role in bone metabolism. Genetic testing coupled to targeted therapeutic intervention is being explored as a way of halting disease progression and improving outcome before irreversible skeletal damage has occurred.

scholarly journals A description of large-scale metabolomics studies: increasing value by combining metabolomics with genome-wide SNP genotyping and transcriptional profiling

2012 ◽  
Vol 215 (1) ◽  
pp. 17-28 ◽  
Author(s):  
Georg Homuth ◽  
Alexander Teumer ◽  
Uwe Völker ◽  
Matthias Nauck
Keyword(s):  
Blood Cells ◽  
Large Scale ◽  
Genetic Factors ◽  
Association Studies ◽  
Transcriptional Profiling ◽  
Genome Wide Association Studies ◽  
Protein Levels ◽  
Future Developments ◽  
Genome Wide ◽  
Metabolome Data

The metabolome, defined as the reflection of metabolic dynamics derived from parameters measured primarily in easily accessible body fluids such as serum, plasma, and urine, can be considered as the omics data pool that is closest to the phenotype because it integrates genetic influences as well as nongenetic factors. Metabolic traits can be related to genetic polymorphisms in genome-wide association studies, enabling the identification of underlying genetic factors, as well as to specific phenotypes, resulting in the identification of metabolome signatures primarily caused by nongenetic factors. Similarly, correlation of metabolome data with transcriptional or/and proteome profiles of blood cells also produces valuable data, by revealing associations between metabolic changes and mRNA and protein levels. In the last years, the progress in correlating genetic variation and metabolome profiles was most impressive. This review will therefore try to summarize the most important of these studies and give an outlook on future developments.

scholarly journals Were genome-wide linkage studies a waste of time? Exploiting candidate regions within genome-wide association studies

2009 ◽  
Vol 34 (2) ◽  
pp. 107-118 ◽  
Author(s):  
Yun J. Yoo ◽  
Shelley B. Bull ◽  
Andrew D. Paterson ◽  
Daryl Waggott ◽  
Lei Sun
Keyword(s):  
Association Studies ◽  
Genome Wide Association ◽  
Genome Wide Association Studies ◽  
Linkage Studies ◽  
Genome Wide ◽  
Candidate Regions

scholarly journals The genetic epidemiology of personality disorders

2010 ◽  
Vol 12 (1) ◽  
pp. 103-114 ◽  
Keyword(s):  
Personality Disorders ◽  
Genetic Factors ◽  
Association Studies ◽  
Molecular Genetic ◽  
Cluster Structure ◽  
Epidemiologic Studies ◽  
Axis Ii ◽  
Candidate Gene Association ◽  
Axis I ◽  
Dsm Iv

Genetic epidemiologic studies indicate that all ten personality disorders (PDs) classified on the DSM-IV axis II are modestly to moderately heritable. Shared environmental and nonadditive genetic factors are of minor or no importance. No sex differences have been identified, Multivariate studies suggest that the extensive comorbidity between the PDs can be explained by three common genetic and environmental risk factors. The genetic factors do not reflect the DSM-IV cluster structure, but rather: i) broad vulnerability to PD pathology or negative emotionality; ii) high impulsivity/low agreeableness; and iii) introversion. Common genetic and environmental liability factors contribute to comorbidity between pairs or clusters of axis I and axis II disorders. Molecular genetic studies of PDs, mostly candidate gene association studies, indicate that genes linked to neurotransmitter pathways, especially in the serotonergic and dopaminergic systems, are involved. Future studies, using newer methods like genome-wide association, might take advantage of the use of endophenotypes.

Principles of endocrinology

2018 ◽  
pp. 1-24
Author(s):  
Helen E. Turner ◽  
Richard Eastell ◽  
Ashley Grossman
Keyword(s):  
Multiple Endocrine Neoplasia ◽  
Hormone Receptors ◽  
Association Studies ◽  
Endocrine System ◽  
Endocrine Disorders ◽  
Genome Wide Association Studies ◽  
Linkage Studies ◽  
Case Control Studies ◽  
Related Case ◽  
Genome Wide

This chapter discusses the principles of endocrinology, starting with a description of the anatomy of endocrine glands, hormone structures, and hormone receptors. It similarly provides information on hormone measurements, such as immunoassays, mass spectrometry, hormonal-binding proteins, and biological matrices from serum, urine, and saliva. It relates autoimmunity to the endocrine system, and provides examples of studies of genetic endocrine disorders, such as linkage studies, complex endocrine disease-related case control studies, and genome-wide association studies. Providing information on the endocrine epidemiology, this chapter describes ethnic and geographic variation in disorders such as iodine deficiency, thyroid cancer, vitamin D deficiency, pituitary disease, diabetes, and multiple endocrine neoplasia.

scholarly journals Spectrum of impulse control behaviours in Parkinson’s disease: pathophysiology and management

2020 ◽  
Vol 91 (7) ◽  
pp. 703-711
Author(s):  
Mark John Kelly ◽  
Fahd Baig ◽  
Michele Tao-Ming Hu ◽  
David Okai
Keyword(s):  
Risk Factors ◽  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Impulse Control ◽  
Association Studies ◽  
Management Strategies ◽  
Brain Regions ◽  
Vulnerability Factors ◽  
Pharmacological Management ◽  
Functional Changes

Impulse control behaviours (ICBs) are a range of behaviours linked by their reward-based, repetitive natures. They can be precipitated in Parkinson’s disease (PD) by dopamine replacement therapy, often with detrimental consequences for patients and caregivers. While now a well-recognised non-motor feature of treated PD, much remains unknown about the influence of risk factors, pathophysiological mechanisms, vulnerability factors for specific types of behaviour and the optimal management strategies. Imaging studies have identified structural and functional changes in striatal and prefrontal brain regions, among others. Gene association studies indicate a role for genetic predisposition to PD-ICB. Clinical observational studies have identified potential modifiable and non-modifiable risk factors. Psychological studies shed light on the neurocognitive domains implicated in PD-ICBs and identify psychosocial determinants that may perpetuate the cycle of impulsive and harm-avoidance behaviours. Based on these results, a range of pharmacological and non-pharmacological management strategies have been trialled in PD-ICBs with varying success. The purpose of this review is to update clinicians on the evidence around the pathophysiology of PD-ICB. We aim to translate our findings into an interpretable biopsychosocial model that can be applied to the clinical assessment and management of individual cases of PD-ICB.

scholarly journals Germline Genetic Factors Influence Outcome of Interferon Alpha Therapy in Polycythemia Vera

Blood ◽  
2020 ◽  
Author(s):  
Roland Jäger ◽  
Heinz Gisslinger ◽  
Elisabeth Fuchs ◽  
Edith Bogner ◽  
Jelena D. Milosevic Feenstra ◽  
...  
Keyword(s):  
Polycythemia Vera ◽  
Interferon Alpha ◽  
Genetic Factors ◽  
Myeloproliferative Neoplasms ◽  
Association Studies ◽  
Study Cohort ◽  
Molecular Response ◽  
Genome Wide Association Studies ◽  
Association Analyses ◽  
Genome Wide

Interferon alpha (IFNα) based therapies can induce hematologic and molecular responses in polycythemia vera (PV); however, patients do not respond equally. Germline genetic factors have previously been implicated in differential drug response. We addressed the effect of common germline polymorphisms on hematologic and molecular response (HR/MR) in PV therapy within the PROUD-PV and CONTINUATION-PV studies including 122 patients with PV receiving ropeginterferon alfa-2b. Genome-wide association studies using longitudinal data on HR and MR over 36 months follow-up did not reveal any associations at genome-wide significance. Further, we performed targeted association analyses at the interferon lambda 4 (IFNL4) locus, well known for its role in hepatitis C viral clearance and recently reported to influence HR during therapy of myeloproliferative neoplasms. While we did not observe any association of IFNL4 polymorphisms with HR in our study cohort, we demonstrated a statistically significant effect of the functionally causative IFNL4 diplotype (haplotype pair including the protein-coding variants rs368234815/rs117648444) on MR (p=3.91x10-4; OR=10.80; 95%CI:[2.39-69.97]) as reflected in differential JAK2V617F mutational burden changes according to IFNL4 diplotype status. Stratification of PV patients based on IFNL4 functionality may allow for optimizing patient management during IFNα treatment.

Screening tests for alcoholism or people at risk of alcohol abuse

2000 ◽  
Vol 57 (4) ◽  
pp. 185-190 ◽  
Author(s):  
Allemann
Keyword(s):  
At Risk ◽  
Alcohol Abuse ◽  
Alcohol Dependence ◽  
Screening Tests ◽  
Frühe Diagnose ◽  
Carbohydrate Deficient Transferrin

Es ist allgemein bekannt, daß eine frühe Diagnose im Suchtbereich zu einem besseren therapeutischen Resultat führt und körperliche sowie psychosoziale Folgeschäden, aber auch massive Folgekosten verhindert. Deshalb wurden im Bereich Alkoholscreening in den letzten 15 Jahren weltweit aufwendige Forschungsarbeiten durchgeführt mit allerdings ernüchternden Resultaten. Abgesehen vom noch relativ neuen und teuren CDT-Test (Carbohydrate-deficient Transferrin) und einigen Abänderungen von Fragebögen (vorwiegend Kürzungen) stehen uns momentan als Screeningtests weiterhin nur die seit Jahrzehnten verwendeten und etablierten Methoden zur Verfügung. Das persönliche Gespräch, eine spezifische Anamnese und die Erfahrung des einzelnen Therapeuten wird deshalb auch in Zukunft nicht so rasch ersetzt werden können. Dabei gilt es aber auch in der Zukunft, eigene Ängste vor der Diagnose Alkoholismus und deren allfälligen Folgen sowohl für den Patienten wie auch den Praxisbetrieb zu überwinden. Die Plinius Major Society empfiehlt in ihren «Guidelines on evaluation of treatment of alcohol dependence» als Kurztest (allgemeines Screening) den CAGE-Fragebogen abzugeben, der vom Patienten in kurzer Zeit selbständig durchgeführt werden kann. In der Hausarztpraxis oder der Klinik besser bewährt und aufschlußreicher sind der MALT oder AUDIT, da diese schnell durchführbar und aussagekräftiger sind. Als gängigste und immer noch als die am weitesten verbreiteten Labormarker empfiehlt sie die Durchführung von gamma-GT, MCV, GOT/GPT und CDT

scholarly journals Evaluation of childhood traumatic experience as a risk factor for alcohol use disorder in adulthood

2020 ◽  
Vol 20 (1) ◽  
Author(s):  
Lan Wang ◽  
Cui-Xia An ◽  
Mei Song ◽  
Na Li ◽  
Yuan-Yuan Gao ◽  
...  
Keyword(s):  
Risk Factors ◽  
Alcohol Use ◽  
Alcohol Abuse ◽  
Alcohol Dependence ◽  
Physical Abuse ◽  
Emotional Abuse ◽  
Alcohol Use Disorder ◽  
Alcohol Use Disorders ◽  
Traumatic Experience ◽  
Frequent Drinking

Abstract Background We aimed to investigate the effect of early-age (prenatal, infant, and childhood) trauma on adulthood alcohol use disorder. Methods A total number of 1534 subjects who were born and live in the city of Tangshan were selected. The subjects were divided into three age groups. General demographic data, conditions of the mothers during pregnancy, and condition of the babies at birth, were collected. The diagnosis of alcohol use disorder was based on Structured Clinical Interviews for DSM-IV Axis Disorders (patient version) (SCID). The childhood trauma questionnaire short form (CTQ-SF) [1] and the Lifetime of Experience Questionnaire (LTE-Q) [2] were used to evaluate stress in childhood and adulthood, respectively. Results Only male subjects were diagnosed with lifelong alcohol abuse and alcohol dependence. There was no statistically significant difference in the prevalence of lifetime alcohol use disorder (X2 = 4.480, P = 0.345), current alcohol abuse, and current alcohol dependence among the three groups (X2abuse = 2.177, X2depedence = 2.198, P > 0.05). However, higher prevalence of lifetime alcohol use disorders was found in group with higher scores of CTQ (X2 = 9.315, P = 0.009), emotional abuse (X2 = 8.025, P = 0.018), physical abuse (X2 = 20.4080, P < 0.001), but not in the group with higher scores of emotional neglect (X2 = 1.226, P = 0.542), sexual abuse (X2 = 2.779, P = 0.249), physical neglect (X2 = 3.978, P = 0.137), LTE-Q (X2 = 5.415, P = 0.067), and PSQI (X2 = 5.238, P = 0.073). Protective factor for alcohol abuse for men was identified to be heavy drinking (OR = 0.085, 95%CI: 0.011–0.661), and the risk factors for alcohol abuse were identified to be frequent drinking (OR = 2.736, 95%CI: 1.500, 4.988), and consumption of low liquor (OR = 2.563, 95%CI: 1.387, 4.734). Risk factors for alcohol dependence in males were identified to be consumption of low liquor (OR = 5.501, 95%CI: 2.004, 15.103), frequent drinking (OR = 2.680, 95%CI: 1.164, 6.170), and childhood physical abuse (OR = 2.310, 95% CI: 1.026, 5.201). Conclusion Traumatic experience during infant and prenatal periods does not have a strong statistical correlation with alcohol use disorders for male adults. However, subjects with high CTQ scores, experience of emotional abuse and physical abuse show a statistically higher prevalence of lifetime alcohol use disorders. Several risk factors including consumption of low liquor, frequent drinking, and childhood physical abuse contribute to alcohol dependence in male adults.

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