The role of 5-HTTLPR in autism spectrum disorder: New evidence and a meta-analysis of this polymorphism in Latin American population with psychiatric disorders

PLoS One. 2020 Jul 2;15(7):e0235512. doi: 10.1371/journal.pone.0235512. eCollection 2020.

Abstract

The autism spectrum disorder (ASD) is a complex disorder encompassing a broad phenotypic and genotypic variability. The short (S)/long (L) 5-HTTLPR polymorphism has a functional role in the regulation of extracellular serotonin levels and both alleles have been associated to ASD. Most studies including European, American, and Asian populations have suggested an ethnical heterogeneity of this polymorphism; however, the short/long frequencies from Latin American population have been under-studied in recent meta-analysis. Here, we evaluated the 5-HTTLPR polymorphism in Colombian individuals with idiopathic ASD and reported a non-preferential S or L transmission and a non-association with ASD risk or symptom severity. Moreover, to recognize the allelic frequencies of an under-represented population we also recovered genetic studies from Latin American individuals and compared these frequencies with frequencies from other ethnicities. Results from meta-analysis suggest that short/long frequencies in Latin American are similar to those reported in Caucasian population but different to African and Asian regions.

Publication types

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

MeSH terms

  • Asian People / genetics
  • Autism Spectrum Disorder / diagnosis
  • Autism Spectrum Disorder / genetics*
  • Autism Spectrum Disorder / pathology
  • Gene Frequency
  • Genotype
  • Humans
  • Latin America
  • Polymorphism, Single Nucleotide*
  • Serotonin Plasma Membrane Transport Proteins / genetics*
  • Severity of Illness Index
  • White People / genetics

Substances

  • SLC6A4 protein, human
  • Serotonin Plasma Membrane Transport Proteins

Grants and funding

MCL: Grant # 120474455837 (744-2016) from Minciencias, previously known as Colciencias MCL: Grant Heterogeneidad Genetica del Autismo. Vicerrectoria de investigaciones -Universidad de Los Andes DLN: scholarship from Ceiba.