tph基因多态性与重性抑郁症及症状表型的相关性

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1、TPH基因多态性与重性抑郁症及症状表型的相关性【摘要】　　目的探讨中国汉族TPHA218C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TPHA218C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%)(χ2=6.214，P=0.013)；(χ2=6.946,P=0.031)。按性别分层后，男性抑郁症组C/

2、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TPHA218C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。【关键词】抑郁症；色氨酸羟化酶基因；多态性　　　AssociationofTPHgenepolymorphismwithmajor　depressionandsymptomphenotypes　　　ABSTRACT:ObjectiveToexploretheass

3、ociationamongthedepression,symptomphnotypesandpolymorphismTPHA218Cinthe12HanChinese.MethodsTPHA218CwasdeterminedusingaPCRbasedtechnique.TPHwasgenotypedusingrestrictionfragmentlengthpolymorphismin70patientsaffectedbydepressionand70unrelatedcontrols.Weevaluatedthesymptomphenotypesofc

4、asesapplyingtheHamiltonRatingScalefordepression(HAMD).ResultsTheTPHA218Cgenotypedistributionin70patientswithmajordepressionwassignificantlydifferentfromthatincontrols(χ2=6.946,P=0.031).TheCalleleinpatients(44.3%)wassignificantlymorefrequentthanincontrols(24.3%)buttheAallele(55.7%)an

5、dA/Agenotype(31.4%)weresignificantlylessfrequentthanincontrols(75.7%and62.9%)(χ2=6.946,P=0.031).Meanwhile,amongthemales,atrendwasobservedtowardanexcessofTPHC/C(12.5%vs.6.3%)inpatientsandexcessofTPHA/Aincontrols(75.0%vs.25.0%)(χ2=8.103,P=0.017).Therewerenosignificantdifferencesinthre

6、egenotypesdistributionamongsymptomphenotypesofcases.ConclusionTherewasanassociationbetweenTPHA218Cpolymorphismanddepression.ThefindingsraisethepossibilitythatTPHA218Cpolymorphismmayexertdifferentialeffectsbasedongender.ThereisnoassociationamongTPHA218Cpolymorphismandsymptomphenotype

7、sofdepression.12　　KEYWORDS:depression;tryptophanhydroxylasegene;polymorphism　　色胺酸羟化酶(tryptophanhydroxylase,TPH)是5羟色胺(5hydroxytryptamine,5HT)合成的限速酶，它将色氨酸羟化为5羟色酚后经脱羧作用转化成5HT，决定活体5HT的水平。TPH的改变是5HT水平改变的可能原因之一，而5HT神经递质的改变与一些精神障碍和行为异常(包括抑郁、自杀)有关[16]。TPH基因定位于11号染色体短臂14-15.3区(11p14

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