| Autor: |
Simpson, Jennifer, Vetuz, Glenn, Wilson, Mathew, Brookes, Keeley J., Kent, Lindsey |
| Zdroj: |
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics: The Official Publication of the International Society of Psychiatric Genetics; September 2010, Vol. 153 Issue: 6 p1228-1233, 6p |
| Abstrakt: |
Genetic variation within the dopamine D4 receptor DRD4 gene has been implicated in many neuropsychiatric disorders and behavioral traits. This variation includes the extensively studied exon 3 variably numbered tandem repeat VNTR, and several 5′ polymorphisms including a120bp duplication and two singlenucleotide polymorphisms at −521 CT rs1800955 and −616 CG rs747302. Several reports have provided evidence for a functional role for some of these variants using in vitro techniques. This study investigated the functionality of these polymorphisms in 28 human postmortem brain tissue samples by quantifying DRD4mRNA expression in relation to genotype. No statistically significant relationship between genotype and mRNA expression levels was found for these four polymorphisms although a weak trend toward the 7repeat of the exon 3 VNTR reducing DRD4 mRNA expression was found. Employing postmortem brain tissue, rather than using in vitro techniques may provide a more relevant paradigm to study functional effects of reported risk alleles. © 2010 WileyLiss, Inc. |
| Databáze: |
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