Oliveira J R, Gallindo R M, Maia L G, Brito-Marques P R, Otto P A, Passos-Bueno M R, Morais M A, Zatz M
Laboratory of Immunopathology Keizo Asami, Federal University of Pernambuco, Recife, Brazil.
Mol Psychiatry. 1998 Sep;3(5):438-41. doi: 10.1038/sj.mp.4000417.
We analyzed a deletion/insertion polymorphism within the promoter region of the serotonin transporter gene (5-HTTPLR) in 81 patients with late onset Alzheimer's (AD) disease (mean age 70.02 +/- 8.13 years). Control groups included 81 normal subjects with comparable age (mean age 75.6 +/- 10.2) and 82 younger normal subjects (mean age 37.4 +/- 9.1). Statistical analysis showed a significant difference in the genotype and gene frequencies between the AD group and normal controls (chi 2 = 9.021; 2 d.f. and chi 2 = 5.59, 1 d.f., respectively, P < 0.05) due to the higher frequency of the L allele and the lower frequency of the s allele in controls than among AD patients. However, no differences were found in the genotype frequencies in older as compared to younger normal control groups (chi 2 = 0.337, 2 d.f. and P > 0.05). The present study confirms, in a different population, that the short variant of the 5-HTTPLR polymorphism may be a risk factor for late onset AD.
我们分析了81例晚发性阿尔茨海默病（AD）患者（平均年龄70.02±8.13岁）血清素转运体基因（5-HTTPLR）启动子区域的缺失/插入多态性。对照组包括81名年龄相当的正常受试者（平均年龄75.6±10.2）和82名年轻正常受试者（平均年龄37.4±9.1）。统计分析显示，AD组与正常对照组之间的基因型和基因频率存在显著差异（卡方值分别为9.021；自由度为2和卡方值为5.59，自由度为1，P<0.05），原因是对照组中L等位基因频率较高，s等位基因频率低于AD患者。然而，与年轻正常对照组相比，老年正常对照组的基因型频率没有差异（卡方值为0.337，自由度为2，P>0.05）。本研究在不同人群中证实，5-HTTPLR多态性的短变体可能是晚发性AD的一个风险因素。
