RIT2 Polymorphisms: Is There a Differential Association?

Mol Neurobiol. 2017 Apr;54(3):2234-2240. doi: 10.1007/s12035-016-9815-4. Epub 2016 Mar 3.


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.

Keywords: Autism; Bipolar disorder; Essential tremor; Neurological disorders; Parkinson’s disease; Polymorphism; RIT2; Schizophrenia.

MeSH terms

  • Adult
  • Aged
  • Asian Continental Ancestry Group / genetics
  • Autistic Disorder / genetics
  • Bipolar Disorder / genetics
  • Essential Tremor / genetics
  • Female
  • Genetic Predisposition to Disease*
  • Genome-Wide Association Study / methods
  • Genotype
  • Humans
  • Male
  • Middle Aged
  • Monomeric GTP-Binding Proteins / genetics*
  • Parkinson Disease / genetics
  • Polymerase Chain Reaction / methods
  • Polymorphism, Single Nucleotide / genetics*
  • Risk Factors


  • Monomeric GTP-Binding Proteins
  • RiT2 protein, human