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Effect of the XbaI polymorphism of estrogen receptor alpha on postmenopausal gray matter

Scassellati, Catia
Ghidoni, Roberta
Testa, Cristina
Benussi, Luisa
Bonetti, Matteo
Bocchio-Chiavetto, Luisella
Gennarelli, Massimo
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Published in Neuroscience Letters. 2008, vol. 434, no. 3, p. 304-309
Abstract The frequent polymorphism XbaI (A351G) in the estrogen receptor alpha (ERalpha) gene has been associated with some postmenopausal pathologies' risk such as Alzheimer's disease (AD) or cognitive decline. In the present study, we explored whether the XbaI polymorphism leads to different gray matter volumes using voxel-based morphometry (VBM) on 20 magnetic resonance images of healthy postmenopausal women. Subjects carrying the less common XbaI/X allele were contrasted to non-carriers in groups well balanced by relevant confounding variables. The XbaI/X allele carriers displayed clusters ranging from 9 to 28% of tissue reductions in the cerebellar (cluster size, z, stereotactic coordinates: 16 mm(3); 3.17; 14, -94, -38) and cerebral cortex, in particular in the occipital lobe (272 mm(3); 3.76; -38,-68,-16), in the middle frontal gyrus (192 mm(3); 3.71; 38, 12, 38) and in the middle temporal gyrus, while the opposite comparison was negative. The XbaI/X allele in ERalpha gene is associated to smaller gray matter volumes of the cerebral and cerebellar cortex. This allele might increase the susceptibility for senile neurodegenerative conditions, being associated to smaller cerebral reserve.
Keywords Alzheimer Disease/genetics/metabolism/physiopathologyAtrophy/genetics/metabolism/physiopathologyBrain/metabolism/pathology/physiopathologyCognition Disorders/genetics/metabolism/physiopathologyCytoprotection/geneticsDNA Mutational AnalysisDementia/genetics/metabolism/physiopathologyDeoxyribonucleases, Type II Site-SpecificDisease ProgressionEstrogen Receptor alpha/geneticsEstrogens/metabolismFemaleGene FrequencyGenetic Predisposition to Disease/geneticsGenetic TestingGenotypeHeterozygoteHumansMagnetic Resonance ImagingMiddle AgedPolymorphism, Genetic/geneticsPolymorphism, Restriction Fragment LengthPostmenopause/metabolism
PMID: 18342444
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BOCCARDI, Marina et al. Effect of the XbaI polymorphism of estrogen receptor alpha on postmenopausal gray matter. In: Neuroscience Letters, 2008, vol. 434, n° 3, p. 304-309. doi: 10.1016/j.neulet.2008.01.076

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Deposited on : 2019-02-08

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