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克罗地亚重度抑郁症患者的5-羟色胺转运体基因多态性

Serotonin transporter polymorphism in Croatian patients with major depressive disorder.

作者信息

Bozina Nada, Mihaljević-Peles Alma, Sagud Marina, Jakovljević Miro, Sertić Jadranka

机构信息

Clinical Institute of Laboratory Diagnosis, Clinical Hospital Centre Zagreb, Croatia.

出版信息

Psychiatr Danub. 2006 Jun;18(1-2):83-9.

Abstract

OBJECTIVES

Differences in serotonin transporter (SERT) expression and function produced by gene polymorphisms are associated with several behavioral and psychiatric traits. Two polymorphic regions of SERT gene: a 44-base-pair (bp) insertion / deletion polymorphism in the promoter region (SERTPR), and variable number of tandem repeats (VNTR) in second intron (SERT-in2) have been characterized. In this study we investigated the frequency distribution of polymorphic variants of short (S, s) and long (L, l) alleles, genotypes and haplotypes of SERTPR, and SERTin2, in patients with major depressive disorder (MDD) and compared it with results obtained from the Croatian healthy population.

SUBJECTS AND METHODS

one hundred and fourteen patients who fulfilled DSM-IV criteria for a diagnosis of MDD were included in the study. Comparisons were made with the results obtained for 120 healthy volunteers representing a mixed Croatian population. SERT genotyping was performed by the PCR (polymerase-chain reaction) method.

RESULTS

The frequency distribution of L and S alleles and genotypes of SERTPR was not statistically different between MDD patients and control participants. The proportion of SERT-in2 short (s) alleles was significantly higher among MDD patients in comparison to healthy subjects (p = 0.04).

CONCLUSION

"s" allele variant in the intron 2 of SERT gene could be associated with susceptibility to MDD.

摘要

目的

基因多态性所导致的血清素转运体(SERT)表达及功能差异与多种行为和精神特质相关。血清素转运体基因的两个多态性区域已得到表征:启动子区域的一个44碱基对(bp)插入/缺失多态性(SERTPR),以及第二个内含子中的可变串联重复序列(VNTR,SERT-in2)。在本研究中,我们调查了重度抑郁症(MDD)患者中SERTPR和SERTin2的短(S,s)、长(L,l)等位基因、基因型及单倍型多态性变体的频率分布,并将其与克罗地亚健康人群的结果进行比较。

对象与方法

本研究纳入了114名符合DSM-IV重度抑郁症诊断标准的患者。将结果与120名代表克罗地亚混合人群的健康志愿者的结果进行比较。采用聚合酶链反应(PCR)方法进行SERT基因分型。

结果

MDD患者与对照参与者之间,SERTPR的L和S等位基因及基因型的频率分布无统计学差异。与健康受试者相比,MDD患者中SERT-in2短(s)等位基因的比例显著更高(p = 0.04)。

结论

SERT基因内含子2中的“s”等位基因变体可能与MDD易感性相关。

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