Geriatric Unit and Gerontology-Geriatrics Research Laboratory, Department of Medical Sciences, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy. dseripa @ operapadrepio.it
Dement Geriatr Cogn Disord. 2010;29(5):424-31. doi: 10.1159/000275670. Epub 2010 May 26.
Genotypes of the solute carrier family 6 (neurotransmitter transporter, serotonin) member 4 (SLC6A4) have been variously associated with depression, obsessive-compulsive disorder, memory impairment, and anxiety. Less clear are data regarding their association with severe dementia, in particular with vascular dementia (VaD).
To evaluate the possible involvement of different SLC6A4 genotypes/haplotypes in VaD.
The analysis of the 3 markers rs3813034, rs140701 and rs4795541 spanning the SLC6A4 locus was made in 541 consecutive patients clinically diagnosed as having VaD (n = 372) or no cognitive impairment (n = 169) attending a geriatric ward. A community-dwelling sample of 353 healthy subjects, as a reference for the genetic frequencies in the recruitment area, was also included in the study. All patients and subjects were free from any symptoms of depression, obsessive-compulsive disorder and anxiety. A complete neuroimaging documentation was available for all patients.
No important differences were observed in genotype distribution across the study groups. Similarly, no important differences were observed in haplotype distribution when a 3-point analysis was made.
Our findings suggest that polymorphism C in the promoter region of the SLC6A4 gene plays a minor role, if any, in the pathogenesis of VaD.
溶质载体家族 6（神经递质转运体，血清素）成员 4（SLC6A4）的基因型与抑郁症、强迫症、记忆障碍和焦虑症等多种疾病有关。但关于它们与严重痴呆，特别是血管性痴呆（VaD）的关联，数据尚不清楚。
评估不同 SLC6A4 基因型/单倍型与 VaD 可能存在的关联。
对跨越 SLC6A4 基因座的 3 个标记 rs3813034、rs140701 和 rs4795541 进行分析，共纳入 541 例连续就诊于老年病房的临床诊断为 VaD（n = 372）或无认知障碍（n = 169）的患者。还纳入了 353 名居住在社区的健康受试者作为招募地区遗传频率的参考。所有患者和受试者均无抑郁、强迫症和焦虑症状。所有患者均有完整的神经影像学资料。
研究组之间在基因型分布上无重要差异。同样，当进行 3 点分析时，单倍型分布也无重要差异。
我们的研究结果表明，SLC6A4 基因启动子区的 C 多态性在 VaD 的发病机制中作用较小，如果有作用的话。
