5-HT2A receptor gene promoter polymorphism –1438A/G and bipolar disorder

Abstract

Genetic factors, such as the genes involved in the serotonin pathway, probably play an important role in the pathogenesis of bipolar disorder, and serotonin type 2A (5-HT2A) receptor gene promoter polymorphism –1438A/G has been reported. This study investigated the association between –1438A/G polymorphism of 5-HT2A receptor gene promoter and bipolar disorder in a Korean population. Using the polymerase chain reaction, –1438A/G polymorphism typed in 142 patients with bipolar disorder and in 148 normal control subjects. Differences in genotype distributions and allele frequencies of –1438A/G between patients with bipolar disorder and normal control subjects were tested for significance using the chi-squared test. There were significant differences in genotype distributions [χ2 = 9.697, degrees of freedom (df) = 2, P = 0.008] and allele frequencies (χ2 = 7.284, df = 1, P = 0.007) of –1438A/G between patients with bipolar disorder and normal control subjects. Although further studies are necessary, these results in a Korean population suggest that –1438A/G polymorphism of 5-HT2A receptor gene promoter may be causally related to the development of bipolar disorder.