Seripa Davide, Franceschi Marilisa, D'Onofrio Grazia, Panza Francesco, Cascavilla Leandro, Paris Francesco, Placentino Giuliana, Matera Maria Giovanna, Solfrizzi Vincenzo, Pilotto Alberto
Geriatric Unit & Gerontology-Geriatrics Research Laboratory, Department of Medical Sciences, IRCCS Casa Sollievo della Sofferenza, Viale Cappuccini 1, 71013 San Giovanni Rotondo (FG), Italy.
Neurosci Lett. 2008 Jun 27;438(3):335-9. doi: 10.1016/j.neulet.2008.04.076. Epub 2008 Apr 25.
The promoter region of the serotonin transporter gene (SLC6A4) shows a 22-bp tandem repeat polymorphism, indicated as polymorphism C, that has been associated to depression, obsessive-compulsive disorder, memory impairment, and anxiety. Less clear are data regarding its association with Alzheimer's disease (AD). No data were reported regarding its association with questionable dementia (QD). In this study we investigate for polymorphism C in the SLC6A4 gene 302 elderly subjects with a clinical diagnosis of AD (n=105), QD (n=88) and no cognitive impairment (n=114) attending a geriatric ward. A community-dwelling sample of 390 healthy subjects was also included in the analysis. A significant higher prevalence of the C16/C16 genotype in AD than in QD was observed (37.14% vs. 3%; p=0.041, OR 2.001, 95%CI 1.018-4.024), while no differences in the C16/C14 and C14/C14 genotypes as well as in the estimated allele frequencies were found. No further differences among the three groups of subjects were found, also when they were compared with the community-dwelling sample. These findings suggest that SLC6A4 gene variation may have only a minor role, if any, in AD or QD.
血清素转运体基因（SLC6A4）的启动子区域存在一种22碱基对的串联重复多态性，标记为多态性C，它与抑郁症、强迫症、记忆障碍和焦虑症有关。关于其与阿尔茨海默病（AD）的关联的数据尚不清楚。关于其与可疑痴呆（QD）的关联未报告任何数据。在本研究中，我们调查了302名临床诊断为AD（n = 105）、QD（n = 88）且无认知障碍（n = 114）的老年受试者，这些受试者均在老年病房就诊。分析中还纳入了390名健康受试者的社区居住样本。观察到AD患者中C16/C16基因型的患病率显著高于QD患者（37.14%对3%；p = 0.041，OR 2.001，95%CI 1.018 - 4.024），而在C16/C14和C14/C14基因型以及估计的等位基因频率方面未发现差异。在三组受试者之间也未发现进一步差异，即使将他们与社区居住样本进行比较时也是如此。这些发现表明，SLC6A4基因变异在AD或QD中可能仅起次要作用（如果有作用的话）。
