Mansy Wael, Ibrahim Nermin H, Al-Gawhary Somaya, Alsubaie Sarah S, Abouelkheir Manal M, Fatani Amal, Abd Al Reheem Fadwa, El Awady Heba, Zakaria Enas A
Clinical Pharmacy Department, College of Pharmacy, King Saud University, PO Box 2454, Riyadh, 11451, Kingdom of Saudi Arabia.
Pharmacology Department, Faculty of Medicine, Cairo University, Cairo, Egypt.
Mol Biol Rep. 2019 Apr;46(2):1955-1962. doi: 10.1007/s11033-019-04645-6. Epub 2019 Feb 5.
There is a significant association exists between vitamin D deficiencies, low respiratory tract infections, and certain types of VDR gene polymorphism. Various studies are being conducted to prove any such link between the different clinical conditions due to disturbed vitamin D regulation and VDR gene polymorphisms. The present study analyzed the presence of vitamin D receptor (VDR) gene polymorphisms (ApaI and TaqI) in Saudi pediatric patient suffering from acute lower respiratory tract infection (ALRTI) cases. Fifty children (50) with ALRTI admitted at King Saud University Medical City, Riyadh/Saudi Arabia were included in addition to seventy-three (73) apparently healthy children who were considered as the control group. Genomic DNA from whole blood was extracted and subjected to polymerase chain reaction (PCR) targeting TaqI and ApaI VDR polymorphisms. RFLP-PCR genotyping was performed to determine the allelic frequency within the VDR gene. In the whole sample, the allelic frequency of ApaI polymorphism in the VDR gene was 58.5%, 17.9%, and 23.6% for AA, Aa, and aa respectively (p = 0.11), while it was 48%, 19%, and 33% for TT, Tt, and tt respectively (p = 0.33) with regards to the frequency of TaqI polymorphism in the VDR gene. VDR ApaI Aa and aa genotypes and VDR TaqI Tt and tt genotypes were not associated with increased risk of ALRTI in children (OR 0.87, 95% CI 0.33-2.28, p = 0.77; OR 0.56, 95% CI 0.23-1.4, p = 0.21; OR 1.15, 95% CI 0.44-2.99, p = 0.77; OR 0.73, 95% CI 0.32-1.68, p = 0.46 respectively). To conclude, neither vitamin D status nor VDR gene polymorphisms such as ApaI and TaqI is associated with increased susceptibility to ALRTI. Linkage disequilibrium was not detected between ApaI and TaqI VDR gene polymorphisms as in the case of serum vitamin D status in ALRTI patients versus apparent healthy children.
维生素D缺乏、下呼吸道感染和某些类型的维生素D受体(VDR)基因多态性之间存在显著关联。由于维生素D调节紊乱和VDR基因多态性,正在进行各种研究以证明不同临床状况之间的任何此类联系。本研究分析了沙特患有急性下呼吸道感染(ALRTI)的儿科患者中维生素D受体(VDR)基因多态性(ApaI和TaqI)的存在情况。除了73名明显健康的儿童作为对照组外,还纳入了在沙特阿拉伯利雅得国王沙特大学医学城收治的50名患有ALRTI的儿童。从全血中提取基因组DNA,并进行针对TaqI和ApaI VDR多态性的聚合酶链反应(PCR)。进行限制性片段长度多态性聚合酶链反应(RFLP-PCR)基因分型以确定VDR基因内的等位基因频率。在整个样本中,VDR基因中ApaI多态性的等位基因频率分别为AA的58.5%、Aa的17.9%和aa的23.6%(p = 0.11),而关于VDR基因中TaqI多态性的频率,TT、Tt和tt分别为48%、19%和33%(p = 0.33)。VDR ApaI Aa和aa基因型以及VDR TaqI Tt和tt基因型与儿童ALRTI风险增加无关(OR 0.87,95% CI 0.33 - 2.28,p = 0.77;OR 0.56,95% CI 0.23 - 1.4,p = 0.21;OR 1.15,95% CI 0.44 - 2.99,p = 0.77;OR 0.73,95% CI 0.32 - 1.68,p = 0.46)。总之,维生素D状态以及ApaI和TaqI等VDR基因多态性均与ALRTI易感性增加无关。在ALRTI患者与明显健康儿童的血清维生素D状态的情况下,未检测到ApaI和TaqI VDR基因多态性之间的连锁不平衡。