脑源性神经营养因子基因多态性与散发性帕金森病的相关性

背景脑源性神经营养因子对多巴胺能神经元具有特殊保护作用,而帕金森病的主要病理改变是黑质致密部多巴胺能神经元的变性和丢失.帕金森病的发生可能与脑源性神经营养因子基因多态性有关.目的探讨中国人群中脑源性神经营养因子基因多态性与散发性帕金森病的相关性,以期为该病的一级康复预防提供遗传学数据.设计以散发性帕金森病患者DNA为研究对象,以社区健康人群DNA为对照,探索性基础研究.单位华中科技大学同济医学院附属协和医院神经内科,华中科技大学人类基因组中心.对象以武汉协和医院神经内科提供85例散发性帕金森病患者(研究组,均为汉族,居在华中地区长期居住)DNA和华中科技大学人类基因组中心提供的健康人(对照组,均为汉族,居在华中地区长期居住)DNA为研究对象.方法采用聚合酶链反应-限制性片段长度多态性分析方法,对健康人和散发性帕金森病患者进行基因分型.主要观察指标检测两组G196A和C270T多态性位点的基因型及等位基因.结果研究组和对照组G196A多态性位点均以G/A基因型为主,频率分别为50.6%和52.0%;C270T多态性位点均为C/C基因型.两组间脑源性神经营养因子基因G196A和C270T多态性位点各基因型和等位基因频率差异均无显著性(P＞0.05).结论中国华中地区汉族人群中脑源性神经营养因子基因多态性与散发性帕金森病发病无明显关系.

Genetic polymorphismsof brain-derived neurotrophic factor and sporadic Parkinson disease

BACKGROUND: Brain-derived neurotrophic factor(BDNF) is a potent dopaminergic neurotrophin. The major pathological change in Parkinson disease(PD) is the degeneration and death of dopaminergic neurons in the substantia nigra pars compacta. There is a possibility that the onset of PD is associated with BDNF genetic polymorphisms.OBJECTIVE: To investigate the relationship between BDNF genetic polymorphisms and sporadic Parkinson disease(SPD) in Chinese population with the expectation of offering some genetic data for the primary rehabilitation and prevention of the disease.DESIGN: Explorative study based on DNA samples of SPD patients as study group and DNA samples of healthy population as control group.SETTING: Neurological Department of Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, and Human Genome Center of Huazhong University of Science and Technology.PARTICIPANTS: Subjects included DNA samples of 85 SPD patients(study group, Han population, living in Huazhong area for a long term) offered by Department of Neurology of Wuhan Union Hospital and DNA samples of health persons(control group, Han population, living in Huazhong area for a long term) offered by Human Genome Center of Huazhong University of Science and Technology.METHODS: The genotype of healthy controls and SPD patients was analyzed with the polymerase chain reaction-restriction fragment length polymorphism technique (PCR-RFLP).MAIN OUTCOME MEASURES: Genotypes and alleles of the two polymorphisms: G196A and C270T of the two groups.RESULTS: G/A genotype was dominant in both SPD patients and control group with frequencies of 50.6% and 52.0% respectively. The C/C genotype occurred with the frequency of 100% in both groups. There were no significant differences in genotype and allele frequencies of G196A and C270T between SPD and control group( P ＞ 0. 05).CONCLUSION: No association existed between BDNF genetic polymorphisms and the onset of SPD in Chinese Han population of Huazhong area.