Łaczmański Łukasz, Jakubik Marta, Bednarek-Tupikowska Grażyna, Rymaszewska Joanna, Słoka Natalia, Lwow Felicja
Department of Endocrinology and Diabetology, Wroclaw Medical University, Wroclaw, Poland.
Psychiatry Department, Wroclaw Medical University, Wroclaw, Poland.
Exp Gerontol. 2015 Sep;69:142-7. doi: 10.1016/j.exger.2015.06.012. Epub 2015 Jun 18.
The aim of this study was to determine whether polymorphisms of the VDR gene may increase the risk of Alzheimer disease (AD) development in Lower Silesian patients in comparison with other populations.
108 AD patients (aged 73.7±8.6) vs 77 healthy volunteers (aged 64.5±7.8) in the Lower Silesian population were studied. We investigated the frequency of the VDR polymorphisms rs731236 (TaqI), rs7975232 (ApaI), rs10735810 (FokI) and rs1544410 (BsmI) in the AD group vs the healthy group. Afterwards, MEDLINE and ResearchGate were studied to compare our investigation with other populations, due to the relatively small group size in our study.
We did not observe any significant differences in frequency of genotypes of rs731236 (TaqI), rs10735810 (FokI) or rs1544410 (BsmI) VDR polymorphisms between the two Lower Silesian groups. Frequency of allele A of ApaI in the control group was significantly higher vs AD patients (p<0.0177) in the Lower Silesian population. Furthermore the difference in the occurrence of allele t in TaqI and allele A in ApaI between AD patients vs the control group was significant (respectively p<0.0056, p<0.0140) in British Europeans. This observation may suggest that allele "a" of the ApaI polymorphism is a risk allele in AD Lower Silesian patients. We compared our results with those obtained for the population of British Europeans. In multivariate stepwise regression, allele "A" of ApaI was associated with 30% lower risk of AD (OR=0.70, p=0.0009) in total treated Polish and British populations. We did not observe similar results in Turkish and Iranian populations.
Our data suggest that the allele "A" VDR genotype of ApaI reduces AD risk, probably depending on ethnic origin and climatic conditions.
本研究的目的是确定与其他人群相比,维生素D受体(VDR)基因多态性是否会增加下西里西亚患者患阿尔茨海默病(AD)的风险。
对下西里西亚人群中的108例AD患者(年龄73.7±8.6岁)和77名健康志愿者(年龄64.5±7.8岁)进行了研究。我们调查了AD组与健康组中VDR基因多态性rs731236(TaqI)、rs7975232(ApaI)、rs10735810(FokI)和rs1544410(BsmI)的频率。由于我们研究中的样本量相对较小,随后研究了MEDLINE和ResearchGate,以便将我们的研究结果与其他人群进行比较。
我们未观察到下西里西亚两组之间rs731236(TaqI)、rs10735810(FokI)或rs1544410(BsmI)VDR基因多态性基因型频率存在任何显著差异。在下西里西亚人群中,对照组中ApaI的A等位基因频率显著高于AD患者(p<0.0177)。此外,在英国欧洲人中,AD患者与对照组之间TaqI的t等位基因和ApaI的A等位基因出现频率的差异具有显著性(分别为p<0.0056,p<0.0140)。这一观察结果可能表明,ApaI多态性的“a”等位基因是下西里西亚AD患者的一个风险等位基因。我们将我们的结果与英国欧洲人群的结果进行了比较。在多变量逐步回归分析中,在接受治疗的波兰和英国总人群中,ApaI的“A”等位基因与AD风险降低30%相关(OR=0.70,p=0.0009)。我们在土耳其和伊朗人群中未观察到类似结果。
我们的数据表明,ApaI的“A”等位基因VDR基因型可降低AD风险,这可能取决于种族起源和气候条件。