Serotonin transporter polymorphic region 5-HTTLPR modulates risk for Parkinson's disease

Neurobiol Aging. 2014 Aug;35(8):1957.e9-1957.e14. doi: 10.1016/j.neurobiolaging.2014.03.002. Epub 2014 Mar 5.


The association between the serotonin transporter gene (SLC6A4) polymorphisms, that is, 5-HTTLPR and rs25531, and Parkinson's disease (PD) remains to be further defined. We investigated this relationship in a Chinese cohort that comprised 504 PD patients and 504 controls. A total of 8 haplotypes and 14 genotypes of SLC6A4 were found in this population including a new variant of 5-HTTLPR, that is, 20G. Our results presented that 5-HTTLPR was associated with an aggravated risk for PD (p = 0.005). The rs25531 alone is not associated with PD susceptibility. However, in a sub-classification based on the impact of 5-HTTLPR and rs25531 on 5-HTT expression, we observed a significant difference in 5-HTT expressing distribution in the cohort, accompanied by an apparently lower level of 5-HTT high expressing group, that is, the LALA genotype, in the PD patients. Taken together, our data provide novel insight in support that the SLC6A4 polymorphisms, particularly 5-HTTLPR, and the serotonergic system are associated with PD etiology.

Keywords: 5-HTTLPR; Parkinson's disease; Polymorphism; Serotonin transporter; rs25531.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aged
  • Asians
  • Cohort Studies
  • Female
  • Genetic Association Studies*
  • Genetic Predisposition to Disease / genetics*
  • Genotype
  • Humans
  • Male
  • Meta-Analysis as Topic
  • Middle Aged
  • Parkinson Disease / genetics*
  • Parkinson Disease / metabolism
  • Polymorphism, Genetic / genetics*
  • Risk
  • Serotonin Plasma Membrane Transport Proteins / genetics*
  • Serotonin Plasma Membrane Transport Proteins / metabolism


  • SLC6A4 protein, human
  • Serotonin Plasma Membrane Transport Proteins