Objective To explore the association of serotonin transporter gene promoter region polymorphisms with the onset of major depressive disorder. Methods A case-control association study was taken, 350 patients which met the diagnostic and statistical manual of mental disorders in the fourth edition (DSM-IV) criteria for major depressive disorder (MDD), and 370 age- and gender-matched controls were recruited. HAMD-17 was used to evaluate the severity of depression. Peripheral blood of all the objects was collected, and genomic DNA was extracted. Polymerase chain reaction-restriction fragment length polymorphisms (PCR-RFLP) was used to detect 5-HTTLPR/rs25531 genotypes. SPSS19.0 statistical software was used for statistical analysis. Results The 5-HTTLPR genotypes and alleles frequency distribution between MDD patients (LL, LS, SS genotypes: 10.9%, 38.0%, 51.1%; L, S alleles: 29.9%, 70.1%) and controls (LL, LS, SS genotypes: 12.4%, 40.5%, 47.1%; L, S alleles: 32.7%, 67.3%) had no significant difference (P=0.522; P=0.245). However, the frequency of 5-HTTLPR/rs25531 genotypes and alleles distribution between MDD patients(L’L’, L’S’, S’S’ genotypes: 6.6%, 34.5%, 58.9%; L’, S’ alleles: 21.7%, 78.3%)and controls(L’L’, L’S’, S’S’ genotypes: 8.1%, 42.4%, 49.5%; L’, S’ alleles: 29.3%, 70.7%) had statistically significance(P=0.041; P=0.019). Logistic regression analysis showed that S’S’ (SS, LGS, LGLG) was the risk genotype for MDD (P=0.016, OR=1.461, OR95%CI=1.072-1.991). Conclusion No significant association was found between 5-HTTLPR polymorphism and the onset of major depressive disorder, 5-HTTLPR/rs25531 S’S’ genotype and S’ maybe the risk genes. Key words: Major depressive disorder; Serotonin transporter; Gene polymorphism
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