ABCBl基因rsl045642位点多态性与文拉法辛疗效的关联研究

目的：探讨ABCB1基因rs1045642位点多态性对抗抑郁剂文拉法辛疗效的影响。方法：纳入统计的89例抑郁症患者服用抗抑郁剂文拉法辛75～150 mg并随访6周，其中88例随访8周。使用汉密尔顿抑郁17项量表（ HAMD-17）评定抑郁症状的严重程度和治疗效果。采用基因芯片检测ABCB1基因的单核苷酸多态性（ SNPs） rs1045642，并通过Unphased3.0.13软件分析rs1045642位点与文拉法辛疗效的关联性。结果：（1）6周有效组和无效组间在性别、年龄、教育程度、家族史、发病次数及HAMD-17项基线分数之间差异无统计学意义（均P＞0.05）。（2）8周痊愈组和未痊愈组间性别、年龄、教育程度、家族史、发病次数及HAMD-17项基线评分之间差异无统计学意义（均 P ＞0.05）。（3）单个位点的关联分析发现， ABCB1基因rs1045642位点的基因型和等位基因分布频率在有效组、无效组间和痊愈组、非痊愈组间差异无统计学意义（均P＞0.05）。结论：ABCB1基因rs1045642位点多态性与抗抑郁剂文拉法辛疗效无显著相关，尚需在更加同质、更大样本中进一步验证。

Relationship between ABCB1 rs1045642 polymorphism and therapeutic effect of venlafaxine in patients with depression

Objective： To investigate the role of ABCB1 rs1045642 polymorphism in antidepressant response . Methods：Eighty-nine Chinese Han patients received venlafaxine 75-150 mg for at least 6 weeks,of which 88 cases were followed up for 8 weeks.The Hamilton depression scale-17（HAMD-17） was used to evaluate the severity of depressive symptoms and the therapeutic effects .The single nucleotide polymorphisms （ SNPs ） rs1045642 of ABCB1 gene was detected using gene chips , then the associations of single locus with treatment response were analyzed using Unphased 3.0.13.Results： （1） There were no significant differences of gender ,age,years of education,family history, episode times, and the baseline scores of HAMD-17 between responders and non-responders （all P〉0.05）.（2） There were also no significant differences of gender ,age,years of education,family history ,episode times and baseline scores of HAMD-17 between remitters and non-remitters （ all P 〉0.05 ） . （3） Single locus association analysis： The SNPs rs1045642 genotype and allele distribution frequency of ABCB1 gene between responders and non-responders and between remitters and non-remitters had no significant differences （ all P〉0.05 ） .Conclusion：There is no ABCB1 rs1045642 polymorphism associated with antidepressant response , it require replication in more homogeneous and larger samples .