The dopamine D2 receptor gene is a susceptibility locus for Parkinson's disease

Oliveri, R. L.; Annesi, Grazia; Zappia, Mario; Civitelli, Donatella; Marco, Elvira Valeria De; Pasqua, Angela Aurora; Annesi, Ferdinanda; Spadafora, Patrizia; Gambardella, Antonio; Nicoletti, Giuseppe; Branca, Damiano; Caracciolo, Manuela; Aguglia, Umberto; Quattrone, Aldo

doi:10.1002/1531-8257(200001)15:1<120::aid-mds1019>3.0.co;2-s

Cited by 52 publications

(34 citation statements)

References 23 publications

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“…Two articles reported no association between the A1 allele and Parkinson's disease (Comings et al 1991;Costa-Mallen et al 2000). However, other studies showed a significant association between the TaqIA A1 allele and Parkinson's disease (Oliveri et al 2000). This was more pronounced in patients with definite Parkinson's disease and becomes non significant when the clinical data is classified as atypical Parkinson's disease (Grevle et al 2000).…”

Section: Other Dopamine-related Diseases Associated With the Taqia Pomentioning

confidence: 97%

The ANKK1 Kinase Gene and Psychiatric Disorders

et al. 2009

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The TaqIA single nucleotide polymorphism (SNP, rs1800497), which is located in the gene that codes for the putative kinase ANKK1 (ANKK1) near the termination codon of the D2 dopamine receptor gene (DRD2; chromosome 11q22-q23), is the most studied genetic variation in a broad range of psychiatric disorders and personality traits. A large number of individual genetic association studies have found that the TaqIA SNP is linked to alcoholism and antisocial traits. In addition, it has also been related to other conditions such as schizophrenia, eating disorders, and some behavioral childhood disorders. The TaqIA A1 allele is mainly associated with addictions, antisocial disorders, eating disorders, and attention-deficit/hyperactivity disorders, while the A2 allele occurs more frequently in schizophrenic and obsessive-compulsive patients. Current data show that the TaqIA polymorphism may be a marker of both DRD2 and ANKK1 genetic variants. ANKK1 would belong to a family of kinases involved in signal transduction. This raises the question of whether signaling players intervene in the pathophysiology of psychiatric disorders. Basic research on the ANKK1 protein and its putative interaction with the D2 dopamine receptor could shed light on this issue.

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Section: Other Dopamine-related Diseases Associated With the Taqia Pomentioning

confidence: 97%

The ANKK1 Kinase Gene and Psychiatric Disorders

et al. 2009

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“…Among other candidate susceptibility genes for PD, polymorphisms of the genes encoding for the dopamine receptors D2 and D4 and for the dopamine trasporter yielded conflicting results in association studies, or still require confirmation (Higuchi et al 1995;Wan et al 1999;Oliveri et al 2000).…”

Section: Pd Susceptibility Genesmentioning

confidence: 99%

Genes and the Environment in Neurodegeneration

et al. 2006

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Neurodegenerative diseases are a heterogeneous group of pathologies which includes complex multifactorial diseases, monogenic disorders and disorders for which inherited, sporadic and transmissible forms are known. Factors associated with predisposition and vulnerability to neurodegenerative disorders may be described usefully within the context of gene-environment interplay. There are many identified genetic determinants for neurodegeneration, and it is possible to duplicate many elements of recognized human neurodegenerative disorders in animal models of the disease. However, there are similarly several identifiable environmental influences on outcomes of the genetic defects; and the course of a progressive neurodegenerative disorder can be greatly modified by environmental elements. In this review we highlight some of the major neurodegenerative disorders (Alzheimer's disease, Parkinson's disease, Amyotrophic lateral sclerosis, Huntington's disease, and prion diseases.) and discuss possible links of gene-environment interplay including, where implicated, mitochondrial genes.

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“…The functional status of the TaqIA variant is not entirely clear, but preliminary evidence in humans has indicated that the A1 allele is associated with reduced density of DRD2 receptors in the striatum (Pohjalainen et al 1998) and reduced brain dopaminergic function (Noble 2003). Individuals carrying the A1 allele (those hetero-or homo-zygotic for the TaqIA1 allelic variant) have approximately 30% fewer D2 receptors in the putamen/caudate (Noble et al 1997) and have a higher risk of developing several clinical disorders (Noble 2003), such as PD (Grevle et al 2000;Oliveri et al 2000). Moreover, Bartrés-Faz et al (2007) using functional magnetic resonance imaging (fMRI) showed that PD patients carrying the A1 allele recruited a broader pattern of cerebral areas than non-carriers during a complex motor task.…”

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The DRD2 TaqIA polymorphism associated with changed midbrain volumes in healthy individuals

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Tarantino

et al. 2009

Genes Brain and Behavior

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The human DRD2 gene is located on chromosome 11q22-q23 and contains one specific functional polymorphism called TaqIA, which characteristically presents two alleles referred to as A1 and A2. Evidence indicates that the A1 allele impacts brain dopaminergic function and may confer an increased risk of developing Parkinson's disease. However, possible morphological changes underlying such genetic variant remain to be clarified. The aim of this study was to provide an in vivo demonstration of changes in brain structures associated with the TaqIA polymorphism of the DRD2 gene. Optimized voxel-based morphometry (VBM) was applied to high-resolution MR brain images of 70 healthy controls divided into two groups according to their DRD2 genotype (A1/A2, n = 15; A2/A2, n = 55). Compared with individuals' homozygous for the A2 allele, the A1 carriers had significantly smaller areas of a specific part of the midbrain, encompassing the substantia nigra bilaterally. Our findings showed an association of the DRD2 TaqIA polymorphism with the changed volumes of a specific subcortical region strongly involved in the dopaminergic system.

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The dopamine D2 receptor gene is a susceptibility locus for Parkinson's disease

Cited by 52 publications

References 23 publications

The ANKK1 Kinase Gene and Psychiatric Disorders

The ANKK1 Kinase Gene and Psychiatric Disorders

Genes and the Environment in Neurodegeneration

The DRD2 TaqIA polymorphism associated with changed midbrain volumes in healthy individuals

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