5′ and 3′ region variability in the dopamine transporter gene ( SLC6A3 ), pesticide exposure and Parkinson's disease risk: a hypothesis-generating study

Autor: Sharon L.R. Kardia, Jordan A. Firestone, Zahra Afsharinejad, Harvey Checkoway, David L. Eaton, Christopher S. Carlson, Phillip D. Swanson, Paola Costa-Mallen, Samir N. P. Kelada, Terri Smith Weller, Gary M. Franklin, Lucio G. Costa, W. T. Longstreth, Karen M. Powers
Rok vydání: 2006
Předmět:
Zdroj: Human Molecular Genetics. 15:3055-3062
ISSN: 1460-2083
0964-6906
DOI: 10.1093/hmg/ddl247
Popis: The dopamine transporter gene (SLC6A3) is a candidate gene for Parkinson's disease (PD) on the basis of its critical role in dopaminergic neurotransmission. Previously, we identified 22 SNPs in the 5' region of SLC6A3, which segregate as eight haplotypes that differ in transcriptional activity when transfected in rat dopamine-producing cells. In the present work from a case-control study size of 293 cases and 395 controls, we employed a cladistic approach to examine gene-disease association. First, we found strong evidence of balancing selection in this region, as determined by a Tajima's D statistic of 2.97 (P
Databáze: OpenAIRE