A functional NET T-182C polymorphism (rs2242446) in the promoter region, a synonymous polymorphisms G1287A in the exon 9(rs5569) and a functional serotonin 2A (5-HT2A) receptor (rs6311) genes in the promoter region were associated with MDD in different populations. However, few studies have focused on the relationship between these three polymorphisms and recurrent MDD patients in Chinese Han population. Three hundred MDD patients (112 males, 188 females) and three hundre unrelated healthy controls were enrolled in the study. POST-PCR ligase detection reaction genotype assay method was used for the genotypic analyses. There existed significant differences both in the frequencies of alleles and genotypes between patients and controls for the 5-HT2A receptor gene polymorphism (χ2=9.267, p=0.01 for genotype; χ2=7.615,p=0.006 for allele). No difference in genotype and allele distribution of G1287A, T182C were found in MDD patients and controls. Our results suggest that the rs6311 polymorphism seems to be the susceptibility factor in etiology of recurrent MDD. In conclusion, 5-HT2A receptor gene variants may be involved in the etiology of MDD, although the results must be verified in larger samples and different ethnicities.
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