Khan Aslam, Raza Muhammad Kashif, Abbas Khurram, Mansour Lamjed, Ali Aktar, Imran Muhammad
Biochemistry Section, Institute of Chemical Sciences, University of Peshawar, Peshawar 25120 Khyber Pakhtunkhwa, Pakistan.
Biochemistry Department, Institute of Basic Medical Sciences, Khyber Medical University, Peshawar 25120 Khyber Pakhtunkhwa, Pakistan.
Steroids. 2025 Jun;218:109607. doi: 10.1016/j.steroids.2025.109607. Epub 2025 Apr 6.
Despite the sunny climate, vitamin D deficiency is highly prevalent in several parts of the world. Several risk factors are associated with VD deficiency, including single nucleotide polymorphism and post-translational modifications in its transport protein, known as vitamin D binding protein (DBP) or GC and CYP24A1, a protein associated with its degradation. Our study explores the impact of rs4588 and rs7041 in the GC gene, along with CYP24A1 rs4809960 and rs2585428, on serum vitamin D and the risk of vitamin D insufficiency. This study enrolled 114 healthy controls and 239 vitamin D-deficient subjects. SNPs were determined using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). The G/T genotype of D432E and the A/A genotype of T436K in the GC gene were observed to be risk factors for vitamin D deficiency. Overall, a significant (P < 0.05) association was observed between the D432E and T436K polymorphism and vitamin D deficiency. Polymorphic genotypes of CYP24A1 rs4809960 and rs2585428 polymorphisms were significantly associated with a higher risk of Vitamin D deficiency. D432E and T436K polymorphisms were associated with decreased vitamin D and increased PTH levels in vitamin D-deficient individuals. Similarly, both CYP24A1 polymorphisms were significantly associated with a higher risk of vitamin D deficiency. Also, a negative association was observed between sufficient serum levels of 25-hydroxyvitamin D and PTH levels.
尽管气候阳光充足，但维生素D缺乏在世界上的几个地区仍然非常普遍。多种风险因素与维生素D缺乏有关，包括单核苷酸多态性及其转运蛋白（称为维生素D结合蛋白（DBP）或GC）和CYP24A1（一种与其降解相关的蛋白质）的翻译后修饰。我们的研究探讨了GC基因中的rs4588和rs7041以及CYP24A1 rs4809960和rs2585428对血清维生素D和维生素D不足风险的影响。本研究招募了114名健康对照者和239名维生素D缺乏受试者。使用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）测定单核苷酸多态性。观察到GC基因中D432E的G/T基因型和T436K的A/A基因型是维生素D缺乏的风险因素。总体而言，观察到D432E和T436K多态性与维生素D缺乏之间存在显著（P < 0.05）关联。CYP24A1 rs4809960和rs2585428多态性的多态基因型与维生素D缺乏的较高风险显著相关。D432E和T436K多态性与维生素D缺乏个体中维生素D水平降低和甲状旁腺激素（PTH）水平升高有关。同样，两种CYP24A1多态性均与维生素D缺乏的较高风险显著相关。此外，在血清25-羟维生素D水平充足与PTH水平之间观察到负相关。
