RÉSUMÉ
Neurological disorders include a wide variety of mostly multifactorial diseases related to the development, survival, and function of the neuron cells. Single-nucleotide polymorphisms (SNPs) have been extensively studied in neurological disorders, and in a number of instances have been reproducibly linked to disease as risk factors. The RIT2 gene has been recently shown to be associated with a number of neurological disorders, such as Parkinson's disease (PD) and autism. In the study reported here, we investigated the association of the rs12456492 and rs16976358 SNPs of the RIT2 gene with PD, essential tremor (ET), autism, schizophrenia (SCZ), and bipolar disorder (BPD; total of 2290 patients), and 1000 controls, by using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method. Significant association was observed between rs12456492 and two disorders, PD and ET, whereas rs16976358 was found to be associated with autism, SCZ, and BPD. Our findings are indicative of differential association between the RIT2 SNPs and different neurological disorders.
Sujet(s)
Prédisposition génétique à une maladie , Protéines G monomériques/génétique , Polymorphisme de nucléotide simple/génétique , Adulte , Sujet âgé , Asiatiques/génétique , Trouble autistique/génétique , Trouble bipolaire/génétique , Tremblement essentiel/génétique , Femelle , Étude d'association pangénomique/méthodes , Génotype , Humains , Mâle , Adulte d'âge moyen , Maladie de Parkinson/génétique , Réaction de polymérisation en chaîne/méthodes , Facteurs de risqueRÉSUMÉ
DNA variations in the fibroblast growth factor 20 gene have been reported to be associated with Parkinson's disease (PD). The rs12720208, a functional SNP located in the 3'UTR region of the gene, was reported as a risk factor for PD. A number of studies, which tried to replicate the result in different populations, failed to detect any associations. In this study, we genotyped rs2720208 SNP in 520 PD patients and 520 healthy controls both from Iran. Significant differences were found in allele and genotype frequencies between patients and controls (p<0.0001 for both). Our results suggest that the rs12720208 polymorphism may be a risk factor for PD in Iranian population.
