5HTTLPR Genetic Variant and Major Depressive Disorder: A Review

Genes (Basel). 2020 Oct 26;11(11):1260. doi: 10.3390/genes11111260.

Abstract

Major Depressive Disorder (MDD) is a disease that involves biological, psychological, and social interactions. Studies have shown the importance of genetics contribution to MDD development. The SCL6A4 protein (5HTTLPR) functions transporting serotonin, a neurotransmitter linked to mood and emotion, to the synaptic cleft. Hence, this study seeks, through a literature review, a better comprehension of the 5HTTLPR genetic variant association with MDD. For this purpose, a search was performed on the Virtual Health Library Portal for articles that related 5HTTLPR to MDD. Most of the articles found were conducted in the American continent, with one (1) study implemented in Brazil. 5HTTLPR associations were found regarding changes in the nervous system, pharmacology, and risk factors seen in MDD patients. When verifying the allelic distribution, the S allele had a higher frequency in most of the studies analyzed. Despite not finding a commonality in the different studies, the tremendous genetic variation found demonstrates the MDD complexity. For this reason, further studies in diverse populations should be conducted to assist in the understanding and treatment of the disease.

Keywords: 5HTTLPR; genetic polymorphism; major depressive disorder; nervous system; pharmacogenomics; risk-factors.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Alleles
  • Depressive Disorder, Major / genetics*
  • Emotions / physiology
  • Female
  • Genetic Predisposition to Disease / genetics*
  • Humans
  • Male
  • Polymorphism, Genetic / genetics*
  • Promoter Regions, Genetic / genetics
  • Protein Isoforms / genetics
  • Risk Factors
  • Serotonin / metabolism
  • Serotonin Plasma Membrane Transport Proteins / genetics*
  • Social Interaction
  • Synaptic Transmission / genetics
  • Synaptic Transmission / physiology

Substances

  • Protein Isoforms
  • SLC6A4 protein, human
  • Serotonin Plasma Membrane Transport Proteins
  • Serotonin