title: Association study of sporadic Parkinson's disease genetic risk factors in patients from Russia by APEX technology.
abstract: Most patients with Parkinson's disease (PD) have sporadic form of the disease with a multifactorial etiology due to interactions between environmental conditions and the genetic constitution of the individuals. We have analyzed by APEX technology 50 single nucleotide polymorphisms (SNPs) in 19 genes related to cholecystokinin, serotonin, dopamine and opioid neurotransmission. Significant differences in the allele and genotype frequencies between the controls and PD patients were detected for four SNPs from three genes (serotonin 2A receptor (rs6311, P=0.043), Wolfram syndrome 1 (rs1801211, P=0.007), proopiomelanocortin (rs28930368, P=0.026 and rs2071345, P=0.027) genes). Two SNPs in proopiomelanocortin (POMC) gene were also associated with different clinical forms of PD. Our data suggest that at least three genes involved in neurotransmitter systems may have more specific role in genetic predisposition to PD.
authors.affiliation: Institute of Molecular Genetics, Russian Academy of Sciences, Kurchatov sq. 2, Moscow 123 182, Russia. shadrina@img.ras.ru
authors.forename: Maria
authors.initials: M
authors.lastname: Shadrina
authors.forename: Tiit
authors.initials: T
authors.lastname: Nikopensius
authors.forename: Petr
authors.initials: P
authors.lastname: Slominsky
authors.forename: Sergei
authors.initials: S
authors.lastname: Illarioshkin
authors.forename: Gulbahar
authors.initials: G
authors.lastname: Bagyeva
authors.forename: Elene
authors.initials: E
authors.lastname: Markova
authors.forename: Irina
authors.initials: I
authors.lastname: Ivanova-Smolenskaia
authors.forename: Ants
authors.initials: A
authors.lastname: Kurg
authors.forename: Svetlana
authors.initials: S
authors.lastname: Limborska
authors.forename: Andres
authors.initials: A
authors.lastname: Metspalu
mesh_terms: D000368:Aged; D005260:Female; D005787:Gene Frequency / Q000235:genetics; D005838:Genotype; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics; D008875:Middle Aged; D020411:Oligonucleotide Array Sequence Analysis / Q000379:methods*; D010300:Parkinson Disease / Q000453:epidemiology / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D011333:Pro-Opiomelanocortin / Q000235:genetics; D044402:Receptor, Serotonin, 5-HT2A / Q000235:genetics; D012307:Risk Factors; D012426:Russia / Q000453:epidemiology
chemical_list: D008565:Membrane Proteins; D044402:Receptor, Serotonin, 5-HT2A; C114987:wolframin protein; D011333:Pro-Opiomelanocortin