TPH基因多态性与重性抑郁症及症状表型的相关性

Association of TPH gene polymorphism with major depression and symptom phenotypes

目的探讨中国汉族TPH A218C多态性与抑郁症及症状表型的相关性。方法采用PCR-RFLP方法研究70例抑郁症(重性抑郁症)患者的TPH基因的多态性分布;采用汉密尔顿抑郁量表(HAMD)评定症状表型。结果抑郁症组TPH A218C多态性的等位基因C的频率(44.3%)明显高于对照组(24.3%),而A等位基因的频率(55.7%)和A/A基因型的频率(31.4%)显著低于对照组(75.7%和62.9%)(2χ=6.214,P=0.013);(2χ=6.946,P=0.031)。按性别分层后,男性抑郁症组C/C基因型的频率(12.5%)明显高于对照组(6.3%),而A/A基因型的频率(25.0%)显著低于对照组(75.0%)(χ2=8.103,P=0.017);病例组中症状表型在三种基因型间分布无显著性差异。结论TPH A218C基因的多态性与抑郁症发病相关,其相关性受性别影响,而与症状表型间无明显的关联。

Objective To explore the association among the depression, symptom phnotypes and polymorphism TPH A218C in the Han Chinese. Methods TPH A218C was determined using a PCR-based technique. TPH was genotyped using restriction fragment length polymorphism in 70 patients affected by depression and 70 unrelated controls. We evaluated the symptom phenotypes of cases applying the Hamilton Rating Scale for depression（HAMD）. Results The TPH A218C genotype distribution in 70 patients with major depression was significantly different from that in controls （Х^2 = 6. 946, P = 0. 031）. The C allele in patients （44.3%） was significantly more frequent than in controls （24.3%） but the A allele （55.7%） and A/A genotype （31.4%） were significantly less frequent than in controls （75.7% and 62.9%） （Х^2 = 6. 946, P =0.031）. Meanwhile, among the males, a trend was observed toward an excess of TPH C/C （12.5% vs. 6.3%） in patients and excess of TPH A/A in controls （75.0% vs. 25.0%） （ Х^2 = 8. 103, P =0.017）. There were no significant differences in three genotypes distribution among symptom phenotypes of cases. Conclusion There was an association between TPH A218C polymorphism and depression. The findings raise the possibility that TPH A218C polymorphism may exert differential effects based on gender. There is no association among TPH A218C polymorphism and symptom phenotypes of depression.