[Association study of 5-HT2A receptor gene polymorphism in anorexia nervosa in Polish population]

Anorexia nervosa (AN) is a disorder of complex etiopathogenesis including the genetic factors. The previous studies on the role of -1438 A/G promoter polymorphism in 5-HT2A receptor gene brought conflicting results, and it is possible that the analysed polymorphism increases the risk of AN only in some ethnic groups. The aim of the study was to assess the frequency of -1438 A/G polymorphism in Polish patients with AN and ethnically matched healthy controls.

The genotyping of 5-HT2A receptor polymorphism was performed in 67 AN patients and 114 healthy controls. The frequencies of alleles and genotypes were compared with Chi2 test.

The deviations from the Hardy-Weinberg equilibrium were not observed in any group. The frequencies of A/A, A/G and G/G genotypes in AN group were respectively: 37.3%, 50.7% and 11.9%; and in the control group: 40.4%; 47.4% and 12.3% (chi2 = 0.2; df = 2; p = 0.91). The prevalence of A and G alleles in the AN group was respectively 62.7% and 37.3%; and in the control group 64.0% and 36.0%; and did not show any statistically significant difference (chi2 = 0.67; df = 1; p = 0.79).

These results suggest that -1438 A/G polymorphism in the promotor region of the 5-HT2A receptor gene does not increase the risk of AN in the Polish population.