DNA甲基化转移酶基因与围绝经期抑郁症的关联研究

目的 探讨DNA甲基化转移酶3B基因(DNMT3B)多态与围绝经期抑郁症疾病表型的质量性状和数量性状的关联。 方法 采用随机抽样法,从2009年11月—2013年1月就诊于三所综合医院妇科门诊及一所专科医院心理门诊的4 684例围绝经期妇女中,抽取403例完成一般资料的收集；采用Beck抑郁量表(BDI)和DSM-IV-TR轴I障碍用临床定式检查手册-病人版(DCID-I/P)进行抑郁障碍的筛查和诊断，入组65例抑郁症患者及匹配的122例健康对照者；共收集398例的外周静脉血,提取DNA；采用Snapshot基因分型技术对DNMT3B基因的2个标签单核苷酸序列多态性(tag SNP，单核苷酸分别为rs6141813与rs2424908)进行检测分型；采用BDI评定抑郁表型的数量性状；运用SNPStats及SHEsis软件分析DNMT3B基因与抑郁表型的质量性状和数量性状的关联。 结果 2组间2个tag SNP的基因型、等位基因的频率分布差异均无统计学意义(P>0.05)；2个多态位点存在强连锁不平衡(D’＝0.98，r2＝0.62)，组成的TC单体型与BDI得分正相关(Add值=2.45,95%CI=0.14～4.75，P=0.04)。 结论 DNA甲基化转移酶3B基因可能与围绝经期抑郁症疾病表型的质量性状关联不大，但可能与围绝经期抑郁症状的数量性状相关,可能是抑郁症易感的微效基因。 

Association study of DNA methyltransferase gene polymorphisms and depressive disorder in perimenopausal woman

Objective To investigate the relationship between DNMT3B gene polymorphisms and qualitative characters/quantitative characters of depressive disorder in perimenopausal woman. Methods Four hundred and three patients were randomly selected from 4 684 perimenopausal women attending three gynecological clinics and one psychological clinic,spans from November,2009 to January,2013,then data were collected.The Beck's depression inventory(BDI) and SCID-I/P were used to screen the depressive symptoms and diagnose the depressive disorder,finally 65 patients and 122 matching controls were picked out.Peripheral blood samples were collected from all of the 398 patients.Two tag single nucleotide polymorphisms(SNPs,rs6141813 and rs2424908) in DNMT3B gene were genotyped by snapshot genotyping assay.The BDI was used to quantify the phenotypes of depressive symptoms.SNPStats software was used to analysis the relationship between DNMT3B gene polymorphisms and depressive disorder or depressive symptoms. Results There were no statistical differences in genotype or allele distribution of two tag snaps in DNMT3B gene between two groups(P>0.05);The haplotype of TC jointed by rs6141813 and rs2424908 polymorphism of DNMT3B gene was positive correlated to quantitative trait of depressive symptoms (Add value=2.45;95% CI=0.14-4.75;P=0.04) with the strong linkage disequilibrium existent(D'=0.98,r2=0.62). Conclusion The results suggest that polymorphisms in DNMT3B gene maybe is associated with quantitative character of depressive symptoms,and it maybe has tiny role in gene level for determine one to be patient or not finally.