scholarly journals Association study between the rs165599 catechol-O-methyltransferase genetic polymorphism and schizophrenia in a Brazilian sample

2012 ◽  
Vol 70 (12) ◽  
pp. 913-916 ◽  
Author(s):  
Quirino Cordeiro ◽  
Renata Teixeira da Silva ◽  
Homero Vallada
Keyword(s):  
Gene Expression ◽  
Genetic Polymorphism ◽  
Comt Gene ◽  
Environment Interaction ◽  
Coding Region ◽  
Gene Encoding ◽  
Brazilian Sample ◽  
Gene Environment Interaction ◽  
Gene Environment ◽  
Hardy Weinberg Equilibrium

Schizophrenia is a severe psychiatric disorder with frequent recurrent psychotic relapses and progressive functional impairment. It results from a poorly understood gene-environment interaction. The gene encoding catechol-O-methyltransferase (COMT) is a likely candidate for schizophrenia. Its rs165599 (A/G) polymorphism has been shown to be associated with alteration of COMT gene expression. Therefore, the present study aimed to investigate a possible association between schizophrenia and this polymorphism. The distribution of the alleles and genotypes of this polymorphism was investigated in a Brazilian sample of 245 patients and 834 controls. The genotypic frequencies were in Hardy-Weinberg equilibrium and no statistically significant differences were found between cases and controls when analyzed according to gender or schizophrenia subtypes. There was also no difference in homozygosis between cases and controls. Thus, in the sample studied, there was no evidence of any association between schizophrenia and rs165599 (A/G) polymorphism in the non-coding region 3' of the COMT gene.

scholarly journals Association study between the Taq1A (rs1800497) polymorphism and schizophrenia in a Brazilian sample

2014 ◽  
Vol 72 (8) ◽  
pp. 582-586 ◽  
Author(s):  
Quirino Cordeiro ◽  
Homero Vallada
Keyword(s):  
Gene Expression ◽  
Association Study ◽  
Functional Impairment ◽  
Allelic Association ◽  
Environment Interaction ◽  
Drd2 Gene ◽  
Brazilian Sample ◽  
Gene Environment Interaction ◽  
Gene Environment ◽  
Hardy Weinberg Equilibrium

Schizophrenia is a severe psychotic disorder with recurrent relapse and functional impairment. It results from a poorly understood gene-environment interaction. The Taq1A polymorphism (located in the gene cluster NTAD) is a likely candidate for schizophrenia. Its rs1800497 polymorphism was shown to be associated with DRD2 gene expression. Therefore the present work aims to investigate a possible association between schizophrenia and such polymorphism. The compared distribution of the alleles and genotypes of the studied polymorphism was investigated in a Brazilian sample of 235 patients and 834 controls. Genotypic frequencies were in Hardy-Weinberg equilibrium. There was a trend of allelic association between the Taq1A polymorphism (rs1800497) with schizophrenia in the studied sample. However no statistically differences were found between cases and controls when analyzed by gender or schizophrenia subtypes.

scholarly journals Interaction between CONNEXIN37 and PDE4D gene polymorphisms with susceptibility to ischemic stroke in Chinese population

2019 ◽  
Vol 244 (18) ◽  
pp. 1642-1647
Author(s):  
Lixia Zhang ◽  
Ruohong Ding ◽  
Peng Kuang ◽  
Leiping Wang ◽  
Huixin Deng ◽  
...  
Keyword(s):  
Ischemic Stroke ◽  
Environment Interaction ◽  
Nucleotide Polymorphisms ◽  
Gene Environment Interaction ◽  
Gene Environment ◽  
Hardy Weinberg Equilibrium ◽  
Never Smokers ◽  
Relationship Of ◽  
Potential Interactions ◽  
The Impact

The objective of this study was to test the relationship of several single nucleotide polymorphisms (SNPs) within phosphodiesterase 4D ( PDE4D) and connexin 37 ( CONNEXIN37) gene additional interactions with ischemic stroke (IS) risk. The online software SNPstats was used for Hardy–Weinberg equilibrium testing. Generalized multifactor dimensionality reduction (GMDR) was employed to detect the potential interactions among CONNEXIN37 gene, PDE4D gene, and smoking. The results indicated that the rs1764391-T and rs966221-G were correlated with higher IS risk, the corresponding ORs (95% CI) were 1.66 (1.21–2.03) and 1.48 (1.11–1.92), respectively. We also found that the first two loci including rs1764391 and rs918592, and the other two-loci including rs1764391 and smoking were significant in the GMDR model. Participants with rs1764391-CT/TT and rs918592-CT/TT genotype have the highest IS risk, compared to subjects with rs1764391-CC and rs918592-CC genotype, OR (95%CI) = 3.16 (1.83–4.45); smokers with rs1764391-CT/TT genotype also have the highest IS risk, compared to never smokers with rs1764391-CC genotype, OR (95%CI) = 2.82 (1.53–4.15), but no significant interaction combinations were found between gene and alcohol drinking. So in this study, the rs1764391-T and rs966221-G, rs1764391–rs918592 interaction, rs1764391–smoking interaction were all associated with higher IS susceptibility. Impact statement Till now, no study investigated the interaction between CONNEXIN37 and PDE4D gene, and the gene–environment interaction. Therefore, in the current study, we aimed to evaluate the impact of interactions between CONNEXIN37 and PDE4D gene, and its interaction with environmental risk factors on susceptibility to ischemic stroke (IS).

scholarly journals The Role of Genes in Defining a Molecular Biology of PTSD

2011 ◽  
Vol 30 (2-3) ◽  
pp. 67-76 ◽  
Author(s):  
Rachel Yehuda ◽  
Karestan C. Koenen ◽  
Sandro Galea ◽  
Janine D. Flory
Keyword(s):  
Gene Expression ◽  
Molecular Biology ◽  
Molecular Mechanisms ◽  
Epidemiological Studies ◽  
Environment Interaction ◽  
Post Traumatic Stress ◽  
Gene Environment Interaction ◽  
Gene Environment ◽  
Genomic Studies ◽  
Or Gene

Because environmental exposure to trauma is the sine qua non for the development of Post Traumatic Stress Disorder (PTSD), the recent focus on genetic studies has been noteworthy. The main catalyst for such studies is the observation from epidemiological studies that not all trauma survivors develop this disorder. Furthermore, neuroendocrine findings suggest pre-existing hormonal alterations that confer risk for PTSD. This paper presents the rationale for examining genetic factors in PTSD and trauma exposure, but suggests that studies of genotype may only present a limited picture of the molecular biology of this disorder. We describe the type of information that can be obtained from candidate gene and genomic studies that incorporate environmental factors in the design (i.e., gene – environment interaction and gene-environment correlation studies) and studies that capitalize on the idea that environment modifies gene expression, via epigenetic or other molecular mechanisms. The examination of epigenetic mechanisms in tandem with gene expression will help refine models that explain how PTSD risk, pathophysiology, and recovery is mediated by the environment. Since inherited genetic variation may also influence the extent of epigenetic or gene expression changes resulting from the environment, such studies should optimally be followed up by studies of genotype.

scholarly journals A Model of Gene-Environment Interaction Reveals Altered Mammary Gland Gene Expression and Increased Tumor Growth following Social Isolation

2009 ◽  
Vol 2 (10) ◽  
pp. 850-861 ◽  
Author(s):  
J. Bradley Williams ◽  
Diana Pang ◽  
Bertha Delgado ◽  
Masha Kocherginsky ◽  
Maria Tretiakova ◽  
...  
Keyword(s):  
Gene Expression ◽  
Mammary Gland ◽  
Tumor Growth ◽  
Social Isolation ◽  
Environment Interaction ◽  
Gene Environment Interaction ◽  
Gene Environment

scholarly journals Genetic Studies in the Nigerian Population Implicate an MSX1 Mutation in Complex Oral Facial Clefting Disorders

2011 ◽  
Vol 48 (6) ◽  
pp. 646-653 ◽  
Author(s):  
A. Butali ◽  
P.A. Mossey ◽  
W.L. Adeyemo ◽  
P.A. Jezewski ◽  
C.K. Onwuamah ◽  
...  
Keyword(s):  
Association Studies ◽  
Direct Sequencing ◽  
Environment Interaction ◽  
Orofacial Clefts ◽  
Gene Environment Interaction ◽  
Gene Environment ◽  
Significant Difference ◽  
Hardy Weinberg Equilibrium ◽  
Nigerian Population ◽  
Set Up

Background Orofacial clefts are the most common malformations of the head and neck, with a worldwide prevalence of 1 in 700 births. They are commonly divided into CL(P) and CP based on anatomic, genetic, and embryologic findings. A Nigerian craniofacial anomalies study (NigeriaCRAN) was set up in 2006 to investigate the role of gene-environment interaction in the origin of orofacial clefts in Nigeria. Subjects and Methods DNA isolated from saliva from Nigerian probands was used for genotype association studies and direct sequencing of cleft candidate genes: MSX1, IRF6, FOXE1, FGFR1, FGFR2, BMP4, MAFB, ABCA4, PAX7, and VAX1, and the chromosome 8q region. Results A missense mutation A34G in MSX1 was observed in nine cases and four HapMap controls. No other apparent causative variations were identified. Deviation from Hardy Weinberg equilibrium (HWE) was observed in these cases ( p = .00002). A significant difference was noted between the affected side for unilateral CL ( p = .03) and bilateral clefts and between clefts on either side ( p = .02). A significant gender difference was also observed for CP ( p = .008). Conclusions Replication of a mutation previously implicated in other populations suggests a role for the MSX1 A34G variant in the development of CL(P).

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