Dimitrakis Efthimios, Katsarou Martha-Spyridoula, Lagiou Maria, Papastefanopoulou Vasiliki, Stanitsa Evangelia, Spandidos Demetrios A, Tsatsakis Aristidis, Papageorgiou Socratis, Moutsatsou Paraskevi, Antoniou Katerina, Kroupis Christos, Drakoulis Nikolaos
Research Group of Clinical Pharmacology and Pharmacogenomics, Faculty of Pharmacy, School of Health Sciences, National and Kapodistrian University of Athens, 15784 Athens, Greece.
Department of Clinical Biochemistry, University General Hospital 'ATTIKON', 12462 Athens, Greece.
Exp Ther Med. 2022 May;23(5):341. doi: 10.3892/etm.2022.11271. Epub 2022 Mar 22.
The role of vitamin D in Alzheimer's Disease (AD) has been studied over the past years. The results from numerous studies have indicated that the molecular pathways involved in the development of AD are closely related to the molecular pathways of the mechanisms of action of vitamin D. However, only a limited number of studies have described the key role of vitamin D receptor (VDR) in the regulation of the functions of vitamin D and the potential effect of single nucleotide polymorphisms (SNPs) of the gene. Thus, the aim of the present study was to investigate the TaqI polymorphism in relation to AD in a Southeastern European Caucasian (SEC) cohort. Further, the present study aimed to compare the results obtained with those of other AD populations. For this purpose, blood samples from 90 confirmed patients with AD [median age, 74 years; median mini-mental state examination (MMSE) score of 21; median frontal assessment battery (FAB) score of 10] and 103 healthy controls (median age, 57 years) were analyzed to determine the genotypes of TaqI (rs731236) using quantitative PCR. The frequencies (%) of the TaqI TT, TC and CC genotypes in the controls/patients were 34/48.9, 47.6/41.1 and 18.4/10.0, respectively. Statistically significant differences were observed for the TaqI C allele [odds ratio (OR). 0.54; 95% confidence interval (CI), 0.30-0.96; P=0.035], the TaqI TT genotype (OR, 1.86; 95% CI, 1.04-3.32; P=0.035) and the TaqI CC genotype (OR, 0.119; 95% CI, 0.014-0.995; P=0.032,) in relation to the MMSE score <21 in the patient's group. The TaqI TT allele was found to increase the risk of developing AD by 1.86-fold in the SEC population, while the TaqI C allele may act protectively, with a 46% lower risk of developing the disease. Patients with the TaqI CC genotype were found to have an 88% less likelihood of developing severe cognitive impairment based on the MMSE score. On the whole, the present study did not confirm the results of previous studies on the TaqI C allele in patients with AD.
过去几年一直在研究维生素D在阿尔茨海默病（AD）中的作用。众多研究结果表明，AD发病过程中涉及的分子途径与维生素D作用机制的分子途径密切相关。然而，仅有少数研究描述了维生素D受体（VDR）在调节维生素D功能中的关键作用以及该基因单核苷酸多态性（SNP）的潜在影响。因此，本研究的目的是在东南欧白种人（SEC）队列中调查TaqI多态性与AD的关系。此外，本研究旨在将所得结果与其他AD人群的结果进行比较。为此，对90例确诊的AD患者[中位年龄74岁；简易精神状态检查表（MMSE）中位得分21分；额叶评估量表（FAB）中位得分10分]和103名健康对照者（中位年龄57岁）的血样进行分析，采用定量PCR确定TaqI（rs731236）的基因型。对照组/患者组中TaqI TT、TC和CC基因型的频率（%）分别为34/48.9、47.6/41.1和18.4/10.0。在患者组中，观察到TaqI C等位基因[比值比（OR）为0.54；95%置信区间（CI）为0.30 - 0.96；P = 0.035]、TaqI TT基因型（OR为1.86；95% CI为1.04 - 3.32；P = 0.035）和TaqI CC基因型（OR为0.119；95% CI为0.014 - 0.995；P = 0.032）与MMSE得分<21存在统计学显著差异。在SEC人群中，发现TaqI TT等位基因使患AD的风险增加1.86倍，而TaqI C等位基因可能具有保护作用，患病风险降低46%。基于MMSE得分，发现TaqI CC基因型的患者发生严重认知障碍的可能性降低88%。总体而言，本研究未证实先前关于AD患者中TaqI C等位基因的研究结果。
