脑源性神经营养因子基因多态性与重庆地区血管性认知功能障碍的相关性研究

Association of brain-derived neurotrophic factor gene polymorphisms with vascular cognitive impairment in Chongqing

目的:探讨汉族人群中脑源性神经营养因子(brain-derived neurotrophic factor,BDNF)基因单核苷酸多态性(single nucleotide polymorphism,SNP)与重庆地区血管性认知功能障碍(vascular cognitive impairment,VCI)的关系。方法:选取60例VCI患者,99例健康老年人(对照组)采用聚合酶链反应(polymerase chain reaction,PCR)结合限制性片段长度多态性(restriction fragment length polymorphism,RFLP)技术对BDNF基因G11757C、G196A、C270T进行多态性分析,采用SHEsis在线软件进行连锁不平衡及单体型分析。结果:VCI组G11757C位点基因型GG(30.4%)、GC(53.6%)、CC(16.1%),等位基因G(57.1%)、C(42.9%);对照组G11757C位点基因型GG(30.9%)、GC(47.4%)、CC(21.6%),等位基因G(54.6%)、C(45.4%)(χ2=0.837,P=0.658;χ2=0.180,P=0.671)。VCI组G196A位点基因型AA(23.3%)、AG(51.7%)、GG(25.0%),等位基因A(49.2%)、G(50.8%);对照组G196A位点基因型AA(22.2%)、AG(46.5%)、GG(31.3%),等位基因A(45.5%)、G(54.5%)(χ2=0.744,P=0.689;χ2=0.413,P=0.520)。VCI组C270T位点基因型CC(8.30%)、CT(56.7%)、TT(35.0%),等位基因C(36.7%)、T(63.3%);对照组C270T位点基因型CC(24.2%)、CT(50.5%)、TT(25.3%),等位基因C(49.5%)、T(50.5%),2组基因型频率及等位基因频率差异有统计学意义(χ2=6.68,P=0.035;χ2=4.98,P=0.026)。VCI组GGT单体型频率(14.3%)与对照组GGT单体型频率(6.3%)差异有统计学意义(Fisher’s P=0.025)。结论:BDNF基因多态性可能与重庆地区部分汉族人群VCI发病有关。

Objective：To investigate the association of brain-derived neurotrophic factor（BDNF）gene polymorphisms with vascular cognitive impairment（VCI）in Chongqing. Methods：Totally 60 patients with VCI（VCI group）99 health（normal control group）were chosen simultaneously. The genotypes and alleles frequencies of BDNF gene were analyzed by polymerase chain reaction-restriction fragment length polymorphism（PCR-RFLP）. The software SHEsis was used to analyze the linkage disequilibrium and the haplotypes between the two groups. Results：G11757C genotypes frequencies between VCI group（GG（30.4%）,GC（53.6%）,CC（16.1%））and normal control group（GG（30.9%）,GC（47.4%）,CC（21.6%））showed no significant difference and alleles frequencies between VCI group（G（57.1%）,C（42.9%））and normal control group（G（54.6%）,C（45.4%））also showed no significant difference（χ2=0.837,P=0.658;χ2=0.180,P=0.671）. G196 A genotypes frequencies between VCI group（AA（23.3%）,AG（51.7%）,GG（25.0%））and normal control group（AA（22.2%）,AG（46.5%）,GG（31.3%））showed no significant difference and alleles frequencies between VCI group（A（49.2%）,G（50.8%））and normal control group（A（45.5%）,G（54.5%））also showed no significant difference（χ2=0.744,P=0.689;χ2=0.413,P=0.520）. C270 T genotypes frequencies（CC（8.30%）,CT（56.7%）,TT（35.0%）vs. CC（24.2%）,CT（50.5%）,TT（25.3%））and alleles frequencies（C（36.7%）,T（63.3%）vs. C（49.5%）,T（50.5%））showed significant differences between VCI group and normal control group（χ2=6.68,P=0.035;χ2=4.98,P=0.026）. And these were significant differences in the frequency haplotype GGT（Fisher＇s P=0.025）between VCI group and normal control group. Conclusion：The polymorphisms of BDNF gene may be related to VCI in Han population in Chongqing.