Association Of Estrogen Receptor Alpha And BDNF Polymorphisms With Late-onset Alzheimer's Disease In Han Population In Southern Chinese

BackgroundThe incidence of Alzheimer's disease is on the rise, however, the pathogenesis is still unclear. At present, we believe that the disease is closely related with genetic. Because brain-derived neurotrophic factor and estrogen receptor-αis correlated with the nerve protecting, besides intron influenced mRNA shearing and ensured or enhanced the stability of gene expression. In this study we will explore the relationship of these two genes intron between polymorphism and AD.ObjectiveAlzheimer's disease is a genetic-related diseases. One of the main disease pathology is characterized by hippocampal atrophy. Brain-derived neurotrophic factor are closely related to hippocampal atrophy. And synergy of estrogen receptorαBDNF involved in the regulation of neural plasticity. This study observed the polymorphism distribution and its relationship of Erαgene intron and BDNF in late-onset AD, it also discussed effect of their own and their interaction in the pathogenesis of LOAD. ObjectPatients with LOAD in Department of Neurology and Department of Elder in-patient and out-patient Section of our hospital 1998-2007,including 208 LOAD cases, 138 elderly cases of control group, whose health, age, sex, educational attainment was no significant difference.Methodsphenol chloroform DNA extraction method, PCR-RELP method.Statistical MethodsUse gene counting method to calculate gene frequencies and genotype frequencies, and then test their compliance with Hardy-Weinberg law of genetic and equilibrium law of balance. Comparison of age between the two groups applied SPSSll.5 (SPSSInC, USA) to conduct an independent samples t test; sex, allele and genotype frequencies of two groups, different genotypes and qualitative comparison of clinical databased card in PD group are used square test. Haplotype analysis is applied software SHEsis. All statistical tests were bilateral test, P <0.05 are viewed as statistically significant difference.ResultsThe gene, which are with representative groups, consistent with the Hardy-Weinberg law of genetic equilibrium. Significant differences were not found between LOAD group and control group about BNDF gene locus C270T genotypes and allele frequencies. According to the study of gender stratification, there is no significant conflicting also; significant difference have not yet found between ERαgene PvuII and XbaI genotypes or alleles as well. We have not found apparently differences about stratification; when analyzed the three estriction sites of alleles interaction among BDNFC270T, ERαPvuII and XbaI, also no significant conflicting. After haplotype analyzed of restriction sites in Erαgene PvuII,XbaI, and stratified analysis by gender, there was no significant difference. When the analysis of BDNF gene and ERαgene intron interaction, it was found that while BDNF gene carrying C270T genotype CC site and XbaI site of ERαgene xx genotype increased risk of LOAD incidence (OR = 2.379,95% CL: 1.024 -5.527), than there is no interaction between the genotype significant differenceConclusion1. In southern China Han population, BDNF C270T locus is not correlated with LOAD .2. ERαPvuII and XbaI locus is not associated with the LOAD-free, in southern China Han population3. We found that while BDNF gene carrying C270T CC genotype and XbaI site of ERαgene xx genotype increased risk of LOAD, it has to be true in further studies.