Association between seasonal affective disorder and the 5-HT2A promoter polymorphism, -1438G/A

Mol Psychiatry. 1999 Jan;4(1):89-92. doi: 10.1038/sj.mp.4000439.

Abstract

Genes involved in serotonin metabolism are good candidates for the pathogenesis of seasonal affective disorder (SAD). A functional variant in the serotonin transporter promoter, 5-HTTLPR, has recently been shown to be associated with SAD and seasonality. The purpose of this study was to determine whether -1438G/A, a polymorphism in the 5-HT2A promoter, is associated with SAD and seasonality, and whether it has additive effects with 5-HTTLPR on seasonality. Sixty-seven individuals with SAD and 69 normal volunteers, all screened with the SCID and diagnosed according to DSM-III-R criteria, were genotyped for the -1 438G/A 5-HT2A promoter polymorphism. All had been previously genotyped for 5-HTTLPR and had been assessed for seasonality by the Global Seasonality Scale. There was a significant increase in the frequency of the -1438A variant allele of the 5-HT2A promoter polymorphism in SAD patients (0.47) compared to matched controls (0.36) (P < 0.01). The difference in genotype distribution was also significant (P < 0.05). We found no association between the -1438G/A polymorphism and seasonality scores, and there was no additive effect with 5-HTTLPR on seasonality. In conclusion, we have shown that the -1438G/A 5-HT2A promoter variant is associated with SAD but not with seasonality. We suggest that the association may instead be with the depressive symptoms of SAD. However, these results should be treated with caution until replicated because of the possibility of false-positive findings in case-control association studies.

MeSH terms

  • Adenine
  • Adult
  • Alleles
  • Carrier Proteins / genetics
  • Female
  • Gene Frequency
  • Genetic Variation
  • Guanine
  • Humans
  • Male
  • Membrane Glycoproteins / genetics
  • Membrane Transport Proteins*
  • Nerve Tissue Proteins*
  • Point Mutation
  • Polymorphism, Genetic*
  • Promoter Regions, Genetic*
  • Receptor, Serotonin, 5-HT2A
  • Receptors, Serotonin / genetics*
  • Reference Values
  • Seasonal Affective Disorder / genetics*
  • Serotonin Plasma Membrane Transport Proteins

Substances

  • Carrier Proteins
  • Membrane Glycoproteins
  • Membrane Transport Proteins
  • Nerve Tissue Proteins
  • Receptor, Serotonin, 5-HT2A
  • Receptors, Serotonin
  • SLC6A4 protein, human
  • Serotonin Plasma Membrane Transport Proteins
  • Guanine
  • Adenine