脑源性神经营养因子基因多态性与早发精神分裂症的关联分析  

Association analysis of the brain-derived neurotrophic factor gene polymorphisms with early-onset schizophrenia in the Chinese population

作　　者：易正辉[1] 张晨[1] 李则挚[1] 卢卫红 杜亚松[1] 范娟[1] 汪栋祥[1] 刘漪[1] 傅迎美 方贻儒[1] 禹顺英[1] 

机构地区：[1]上海交通大学医学院附属精神卫生中心,200030

出　　处：《中华精神科杂志》2012年第5期268-273,共6页Chinese Journal of Psychiatry

基　　金：国家自然科学基金（81171272,30500181）;上海市卫生局科研课题（2009097）

摘　　要：目的探讨中国汉族人群脑源性神经营养因子（BDNF）基因rs11030101和rs6265多态性与早发精神分裂症的关联性。方法采用TaqMan法，检测360例早发精神分裂症患者（患者组，起病年龄〈18岁）和399名健康对照（对照组）BDNF基因rs11030101及rs62652个多态位点，并对等位基因、基因型及单体型频率进行比较。结果（1）患者组与对照组rs11030101等位基因分布和基因型分布的差异均有统计学意义[X^2=5．13，自由度（df=1，P=0．024；X^2=6．12，df=2，P=0．047]，但经Bonferrpmo校正检验后，只有等位基因分布的差异有统计学意义（P=0．048）；单体型分析显示，患者组与对照组A—Val及T—Val分布的差异有统计学意义（X^2=7．96，P=0．005；X^2=8．53，P=0．004）。（2）在女性人群中，患者组与对照组rs11030101基因型分布的差异有统计学意义（X^。=7．76，df=2，P=0．021），经Bonferroni校正检验后差异仍有统计学意义（P=0．042）；单体型T—Val及T—Met分布的差异均有统计学意义（X^2=6．90，P=0．009；X^2=4．60，P=0．032）。结论在中国汉族人群中BDNF基因可能与早发精神分裂症存在关联，尤其与女性早发精神分裂症存在关联，其可能是女性早发精神分裂症的易患基因。Objective To investigate the relationship between the brain-derived neurotrophic factor （BDNF） gene Tag SNPs （rs11030101 and rs6265） and early-onset schizophrenia in the Chinese Han population. Methods The tag single nucleotide polymorphisms （tag SNPs） rs11030101 and rs6265 in the BDNF gene were genotyped in 360 early-onset schizophrenics and 399 controls subjects. Single nucleotide polymorphism association and haplotype analysis were performed. Results （1） There were significantly difference in allele and genotype frequencies between patients and control subjects for rs11030101 （X^2 = 5.13, df=l, P=0.024; X^2 =6. 12, df=2, P=0.047） and haplotypes A-Val and T-Val （X^2 =7.96, P = O. 005 ; X^2 = 8.53, P = 0. 004 ） , and the difference in allele frequencies was still statistically significant ＇after Bonferroni correction （ P = 0. 048 ）. （ 2 ） Stratification of the study by gender of the samples yielded significant evidence for an association with the polymorphisms rs11030101 in female population （genotype-wise： X^2 =7.76, df= 2, P = 0. 021 ）, and the difference still existed after Bonferroni correction （P = 0. 042）. The haplotype analysis revealed that there was significant differences between patients and control subjects for haplotypes T-Val and T-Met （ X^2 = 6. 90, P = 0. 009 ; X^2 = 4. 60, P = 0. 032 ） in the female population. Conclusions The BDNF gene may play important roles in the susceptibility to early-onset and female schizoohrenia in the Chinese oooulation.

关 键 词：精神分裂症 脑源性神经营养因子 多态性 单核苷酸 

分 类 号：R749.3[医药卫生—神经病学与精神病学]