【摘要】 目的:探索上海地区农民人群中α-雌激素受体基因（ER-α）及芳香烃受体基因（Ahr）不同基因形态和老年痴呆症高发风险的可能联系。方法:分别以PCR-RFLP和AS-PCR方法分析一组老年痴呆症患者（n=52）ER-α基因及Ahr基因的多态位点,同一地区的健康人群（n=125）为对照。结果:Alzheimer症病人ER-α基因两个位点突变形态频率显著高于对照人群（PvuⅡ位点:P=0.023,OR=2.94,95％CI 1.13-7.71;XbaⅠ位点:P=0.046,OR=2.28,95％ CI 1.003-5.17）,Ahr G₁₇₂₁A位点基因型频率在病人组和对照组间无显著差异,结论:ER-α基因多态性可能与Alzheimer症易感性个体差异有关,本工作不支持Ahr基因多态性与老年痴呆症高发风险间的可能关联。更多还原

【Abstract】 AIM: To explore the possible association of different polymorphic forms of human α-estrogen receptor （ER-α） and aryl hydrocarbon receptor gene （Ahr） with the risk to senile dementia in farmers in Shanghai suburb. METHODS: Senile dementia patients （n=52） were examined for ER-α and Ahr gene polymorphism genotyping. Healthy individuals （n=125） in the same area were selected as a community control group. Two polymorphic loci, Pvu Ⅱ locus and Xba Ⅰ locus, of human ER-a gene were investigated by a PCR-RFLP-based procedure. The population frequencies of two polymorphic loci in exon 10 of Ahr gene, G₁₇₂₁A (R₅₅₄K) and G₁₇₆₈A (V₅₇₀I) were compared between patients and healthy controls using an allele-specific PCR （AS-PCR） procedure. RESULTS: The mutant allele frequencies of ER-α gene in the AD group were significantly higher than those in the control group （P=0.023, OR=2.94, 95% CI 1.13-7.71 for Pvu Ⅱ locus; P=0.046, OR=2.28, 95% CI 1.003-5.17 for Xba Ⅰ locus）. The mutant allele frequencies among female AD atients were higher than those in the female controls （P=0.016,OR=3.68, 95% CI 1.22-11.08 for Pvu Ⅱ locus, P=0.029, OR=2.95, 95% CI 1.10-7.94 for Xba Ⅰ locus）. The mutant form, neither in the homozygous, nor in the heterozygous form was detected at the locus of Ahr G₁₇₆₈A in a normal local population. No significant difference of Ahr genotype frequency at locus G₁₇₂₁A was noticed between the patients and healthy individuals. CONCLUSION: The distribution of ER polymorphisms was significantly different between Chinese and some other ethnic populations. The results suggested that ER-α gene polymorphisms might be related to the individual susceptibility to AD, especially in the females. However, it did not support the association of Ahr gene polymorphism with higher risk of senile dementia.更多还原