scholarly journals Case-control vs. case-only estimates of gene-environment interactions with common and misclassified clinical diagosis

2019 ◽  
Author(s):  
Iryna Lobach ◽  
Ying Sheng ◽  
Siarhei Lobach ◽  
Lydia Zablotska ◽  
Chiung-Yu Huang
Keyword(s):  
Clinical Diagnosis ◽  
Environmental Variables ◽  
False Negative ◽  
Case Control ◽  
Outcome Variable ◽  
Environment Interaction ◽  
Gene Environment Interaction ◽  
Disease States ◽  
Gene Environment ◽  
Negative Findings

ABSTRACTGenetic studies provide valuable information to assess if the effect of genetic variants varies by the non-genetic (“environmental”) variables, what is traditionally defined to be gene-environment interaction. A common complication is that multiple disease states present with the same set of symptoms, and hence share the clinical diagnosis. Because 1) disease states might have distinct genetic bases; and 2) frequencies of the disease states within the clinical diagnosis vary by the environmental variables, analyses of association with the clinical diagnosis as an outcome variable might result in false positive or false negative findings. We develop estimates for assessment of GxE in a case-only study and compare the case-control and case-only estimates. We report extensive simulation studies that evaluate empirical properties of the estimates and show the application to a study of Alzheimer’s disease.

Association Between Tfeb Gene Polymorphism, Gene–environment Interaction, and Fatty Liver Disease: a Case–control Study in China

2021 ◽  
Author(s):  
Chunbao Mo ◽  
Tingyu Mai ◽  
Jiansheng Cai ◽  
Haoyu He ◽  
Huaxiang Lu ◽  
...  
Keyword(s):  
Liver Disease ◽  
Fatty Liver ◽  
Fatty Liver Disease ◽  
Case Control Study ◽  
Case Control ◽  
Environment Interaction ◽  
Additive Interaction ◽  
Gene Environment Interaction ◽  
Gene Environment ◽  
Control Study

Abstract Background: Fatty liver disease (FLD) is a serious public health problem that is rapidly increasing. Evidences indicated that the transcription factor EB (TFEB) gene may be involved in the pathophysiology of FLD; however, whether TEFB polymorphism is association with FLD remains unclear.Objectives: To explore the association among TFEB polymorphism, gene–environment interaction, and FLD and provide epidemiological evidence for clarifying the genetic factors of FLD.Methods: This study is a case–control study. Sequenom MassARRAY was applied in genotyping. Logical regression was used to analyze the association between TFEB polymorphism and FLD, and the gene–environment interaction in FLD was evaluated by multiplication and additive interaction models.Results: (1) The alleles and genotypes of each single nucleotide polymorphism of TFEB in the case and control groups were evenly distributed; no statistically substantial difference was observed. (2) Logistic regression analysis indicated that TFEB polymorphism is not remarkably associated with FLD. (3) In the multiplicative interaction model, rs1015149, rs1062966, and rs11754668 had remarkable interaction with smoking amount. Rs1062966 and rs11754668 also had a considerable interaction with body mass index and alcohol intake, respectively. However, no remarkable additive interaction was observed.Conclusion: TFEB polymorphism is not directly associated with FLD susceptibility, but the risk can be changed through gene–environment interaction.

scholarly journals Case-Control Studies of Gene-Environment Interaction: Bayesian Design and Analysis

Biometrics ◽  
2009 ◽  
Vol 66 (3) ◽  
pp. 934-948 ◽  
Author(s):  
Bhramar Mukherjee ◽  
Jaeil Ahn ◽  
Stephen B. Gruber ◽  
Malay Ghosh ◽  
Nilanjan Chatterjee
Keyword(s):  
Case Control ◽  
Environment Interaction ◽  
Case Control Studies ◽  
Bayesian Design ◽  
Gene Environment Interaction ◽  
Gene Environment

Genetic, environmental, and epigenetic factors in the development of personality disturbance

2009 ◽  
Vol 21 (4) ◽  
pp. 1031-1063 ◽  
Author(s):  
Richard A. Depue
Keyword(s):  
Environmental Variables ◽  
Extreme Values ◽  
Environment Interaction ◽  
Epigenetic Factors ◽  
Dimensional Model ◽  
Gene Environment Interaction ◽  
Gene Environment ◽  
Main Factors ◽  
Personality Disturbance ◽  
Epigenetic Processes

AbstractA dimensional model of personality disturbance is presented that is defined by extreme values on interacting subsets of seven major personality traits. Being at the extreme has marked effects on the threshold for eliciting those traits under stimulus conditions: that is, the extent to which the environment affects the neurobiological functioning underlying the traits. To explore the nature of development of extreme values on these traits, each trait is discussed in terms of three major issues: (a) the neurobiological variables associated with the trait, (b) individual variation in this neurobiology as a function of genetic polymorphisms, and (c) the effects of environmental adversity on these neurobiological variables through the action of epigenetic processes. It is noted that gene–environment interaction appears to be dependent on two main factors: (a) both genetic and environmental variables appear to have the most profound and enduring effects when they exert their effects during early postnatal periods, times when the forebrain is undergoing exuberant experience–expectant dendritic and axonal growth; and (b) environmental effects on neurobiology are strongly modified by individual differences in “traitlike” functioning of neurobiological variables. A model of the nature of the interaction between environmental and neurobiological variables in the development of personality disturbance is presented.

scholarly journals Accounting for error due to misclassification of exposures in case–control studies of gene–environment interaction

2008 ◽  
Vol 27 (15) ◽  
pp. 2756-2783 ◽  
Author(s):  
Li Zhang ◽  
Bhramar Mukherjee ◽  
Malay Ghosh ◽  
Stephen Gruber ◽  
Victor Moreno
Keyword(s):  
Case Control ◽  
Environment Interaction ◽  
Case Control Studies ◽  
Gene Environment Interaction ◽  
Gene Environment
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