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 |
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Rok vydání: | 2006 |
Předmět: |
Male
Candidate gene medicine.medical_specialty 5' Flanking Region Population Single-nucleotide polymorphism Minisatellite Repeats Biology Balancing selection Polymorphism Single Nucleotide Polymorphism (computer science) Occupational Exposure Internal medicine Genetics medicine Humans Genetic Predisposition to Disease 3' Flanking Region Pesticides Allele education Molecular Biology Genetics (clinical) Dopamine Plasma Membrane Transport Proteins education.field_of_study Haplotype Parkinson Disease General Medicine Odds ratio Endocrinology Haplotypes Case-Control Studies Female |
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 |
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