TRPC6 gene variants and neuropsychiatric lupus

J Neuroimmunol. 2015 Nov 15:288:21-4. doi: 10.1016/j.jneuroim.2015.08.015. Epub 2015 Aug 28.

Abstract

Neuropsychiatric manifestations of systemic lupus erythematosus (NPSLE) influence patients' quality of life and their survival. Little is known about the pathophysiological bases of NPSLE and accordingly there are no specific therapeutic agents to be employed in this setting. Genetic research in systemic lupus erythematosus (SLE) is rapidly evolving as a tool to find clues about the pathogenic determinants of the disease and of its manifestations. Here, we describe the association of a single nucleotide polymorphic variant of the transient receptor potential cation channel, subfamily C, member 6 (TRPC6) gene with protection from the development of NPSLE in a cohort of 106 patients with SLE. TRPC6 is involved in the regulation of N-methyl-d-aspartate (NMDA) receptor signalling, a major player in post-ischemic neuronal injury and in the pathogenesis of NPSLE. TRPC6 genetic variants are promising candidate predictors of nervous system involvement in SLE, whereas the TRPC6 pathway might constitute a potential novel therapeutic target.

Keywords: Genetics; Lupus; Neuropsychiatric involvement; TRPC6.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Female
  • Genetic Variation*
  • Genotype
  • Humans
  • Kaplan-Meier Estimate
  • Lupus Vasculitis, Central Nervous System / genetics*
  • Lupus Vasculitis, Central Nervous System / mortality
  • Male
  • Polymorphism, Single Nucleotide / genetics*
  • Proportional Hazards Models
  • TRPC Cation Channels / genetics*
  • TRPC6 Cation Channel

Substances

  • TRPC Cation Channels
  • TRPC6 Cation Channel
  • TRPC6 protein, human