Li T, Holmes C, Sham P C, Vallada H, Birkett J, Kirov G, Lesch K P, Powell J, Lovestone S, Collier D
Department of Psychological Medicine, Institute of Psychiatry, London, UK.
Neuroreport. 1997 Feb 10;8(3):683-6. doi: 10.1097/00001756-199702100-00021.
We examined a deletion/insertion promoter polymorphism of the serotonin transporter gene, which confers an approximately 40% reduction in expression of the protein, in 196 subjects with late onset Alzheimer's disease (AD) and 271 controls. The frequency of the 484 bp low activity allele was elevated in the subjects with AD (p = 0.004), and an excess of the low activity genotype (30%) was also found in comparison with the controls (20%) (chi 2 = 7.16; p = 0.03). This association was unrelated to the age of the subjects or controls, or to epsilon 4 alleles of the ApoE gene. The odds ratio for the effect of the homozygous low activity genotype was 1.7 (95% CI 1.08-2.67), with a population attributable risk of 33% (95% CI 5-54%). These findings indicate that the low activity allele of the serotonin transporter is a risk factor for late onset AD.
我们在196名晚发性阿尔茨海默病（AD）患者和271名对照者中，检测了血清素转运体基因的一种缺失/插入启动子多态性，该多态性使该蛋白的表达降低约40%。AD患者中484 bp低活性等位基因的频率升高（p = 0.004），与对照者相比，低活性基因型的比例也更高（30%）（对照者为20%）（卡方 = 7.16；p = 0.03）。这种关联与患者或对照者的年龄无关，也与载脂蛋白E基因的ε4等位基因无关。纯合低活性基因型效应的优势比为1.7（95%置信区间1.08 - 2.67），人群归因风险为33%（95%置信区间5 - 54%）。这些发现表明，血清素转运体的低活性等位基因是晚发性AD的一个风险因素。
