Cerasa A, Gioia M C, Tarantino P, Labate A, Arabia G, Annesi G, Lanza P, Di Palma G, Blasi V, Quattrone A
Institute of Neurological Sciences, National Research Council, Cosenza, Italy.
Genes Brain Behav. 2009 Jun;8(4):459-63. doi: 10.1111/j.1601-183X.2009.00492.x. Epub 2009 May 6.
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.
人类DRD2基因位于11号染色体的q22 - q23区域，包含一种名为TaqIA的特定功能多态性，其特征是呈现两个等位基因，分别称为A1和A2。有证据表明，A1等位基因会影响大脑多巴胺能功能，可能会增加患帕金森病的风险。然而，这种基因变异潜在的可能形态学变化仍有待阐明。本研究的目的是在体内证明与DRD2基因的TaqIA多态性相关的脑结构变化。将优化的基于体素的形态测量法（VBM）应用于70名健康对照者的高分辨率脑部磁共振图像，这些对照者根据其DRD2基因型分为两组（A1/A2，n = 15；A2/A2，n = 55）。与A2等位基因纯合个体相比，A1携带者中脑特定部分的面积明显较小，该部分双侧包含黑质。我们的研究结果表明，DRD2 TaqIA多态性与一个特定的、与多巴胺能系统密切相关的皮质下区域体积变化有关。
