title: RAB7L1 promoter polymorphism and risk of Parkinson's disease; a case-control study.
abstract: BACKGROUND
  Recent genome-wide association studies have explored some new loci in association with Parkinson's disease (PD). RAB7L1 is an important gene involved in one of the important neurological pathways, located in PARK16 locus. We performed a case-control study to examine the association between rs823144 SNP located in the promoter region of the RAB7L1 gene and PD risk in Iranian population.
  
  
  METHODS
  A total of 960 samples including 480 PD patients and 480 healthy controls were collected for analysis of the RAB7L1 rs823144 polymorphism using polymerase chain reaction-restriction fragment length polymorphism (PCR - RFLP) method.
  
  
  RESULTS
  We found significant differences in genotypic and allelic frequencies between patients and controls. Significant association was found between presence of minor allele (C) and decreased risk of PD development (p = 0.008, OR = 0.74 (0.605-0.924)). Also another significant association was observed between the CC genotype and PD (p = 0.004, OR = 0.441 (0.252-0.772)).
  
  
  CONCLUSIONS
  Our data support the association between rs823144 and decreased risk of PD.
authors.affiliation: a Iranian Research Center of Healthy Aging , Sabzevar University of Medical Sciences , Sabzevar , Iran.
authors.forename: Ali
authors.initials: A
authors.lastname: Khaligh
authors.affiliation: a Iranian Research Center of Healthy Aging , Sabzevar University of Medical Sciences , Sabzevar , Iran.
authors.forename: Maryam
authors.initials: M
authors.lastname: Goudarzian
authors.affiliation: b Sabzevar University of Medical Sciences , Sabzevar , Iran.
authors.forename: Alireza
authors.initials: A
authors.lastname: Moslem
authors.affiliation: c Molecular Medicine Department, Biotechnology Research Center , Pasteur Institute of Iran , Tehran , Iran.
authors.forename: Amirhosein
authors.initials: A
authors.lastname: Mehrtash
authors.affiliation: d Noncommunicable Diseases Research Center , Fasa University of Medical Sciences , Fasa , Iran.
authors.forename: Javad
authors.initials: J
authors.lastname: Jamshidi
authors.affiliation: e Department of Medical Genetics, School of Medicine , Shahid Beheshti University of Medical Sciences , Tehran , Iran.
authors.forename: Hossein
authors.initials: H
authors.lastname: Darvish
authors.affiliation: f Faculty of Medicine, Department of Medical Genetics , Tabriz University of Medical Sciences , Tabriz , Iran.
authors.forename: Babak
authors.initials: B
authors.lastname: Emamalizadeh
mesh_terms: D000368:Aged; D016022:Case-Control Studies; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D055106:Genome-Wide Association Study; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D010300:Parkinson Disease / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D011401:Promoter Regions, Genetic / Q000235:genetics*; D012307:Risk Factors; D020691:rab GTP-Binding Proteins; D020761:rab1 GTP-Binding Proteins / Q000235:genetics*
chemical_list: C000598762:Rab29 protein, human; D020691:rab GTP-Binding Proteins; D020761:rab1 GTP-Binding Proteins
keywords: Parkinson’s disease; RAB7L1; association; polymorphism; rs823144