Biotechnology and Life Sciences Department, Faculty of Post Graduate Studies for Advanced Sciences, Beni-Suef university, Beni-Suef, Egypt.
Internal Medicine and Biomedical Chemistry Departments, Egypt Ministry of Health and Population, Minia, 61511, Egypt.
Biochem Genet. 2024 Oct;62(5):3624-3641. doi: 10.1007/s10528-023-10648-7. Epub 2023 Dec 30.
Vitamin D effects are mediated by vitamin D receptors (VDRs), which are influenced by various genetic polymorphisms, including ApaI and BsmI. These polymorphisms have been linked to several diseases, including rheumatoid arthritis (RA). This study aimed to compare the frequency and association of VDR ApaI and BsmI gene polymorphisms, serum 25-hydroxy vitamin D (25-(OH)-D) levels, and calcium (Ca) levels between a RA group and a matched healthy control group. In one hundred RA patients and fifty healthy controls, the genotypes of the VDR ApaI and BsmI gene polymorphisms were analyzed using polymerase chain reaction restriction fragment length polymorphisms (PCR-RFLP). Both Serum 25-(OH)-D level and calcium level were measured in the two groups. There was no significant difference between the cases and controls regarding the VDR ApaI gene polymorphism (p = 0.89). A significant difference was observed between the cases and controls in terms of the VDR BsmI gene polymorphism (p = < 0.001). The serum levels of 25-(OH)-D and calcium were significantly lower in the RA group compared to the control group (p = 0.04 and < 0.001 respectively). Significantly higher serum vitamin D levels were associated with the aa genotype (p = 0.007). Significantly increased calcium levels were associated with the AA genotype (p = 0.02). No significant difference was found among BsmI polymorphisms regarding vitamin D and Ca levels (p = 0.25 and 0.87 respectively). Vitamin D receptor gene BsmI polymorphism but not ApaI polymorphism could be a marker of RA susceptibility. Vitamin D and Ca levels are negatively affected by RA. Vitamin D receptor gene ApaI polymorphism contributes to vitamin D and Ca levels.
维生素 D 效应是由维生素 D 受体 (VDR) 介导的，VDR 受多种基因多态性的影响，包括 ApaI 和 BsmI。这些多态性与多种疾病有关，包括类风湿关节炎 (RA)。本研究旨在比较 RA 组和匹配的健康对照组之间 VDR ApaI 和 BsmI 基因多态性、血清 25-羟维生素 D（25-(OH)-D）水平和钙 (Ca) 水平的频率和相关性。在 100 例 RA 患者和 50 例健康对照者中，采用聚合酶链反应限制性片段长度多态性 (PCR-RFLP) 分析 VDR ApaI 和 BsmI 基因多态性的基因型。两组均测量血清 25-(OH)-D 水平和钙水平。VDR ApaI 基因多态性方面，病例组与对照组无显著性差异（p=0.89）。VDR BsmI 基因多态性方面，病例组与对照组有显著性差异（p<0.001）。与对照组相比，RA 组血清 25-(OH)-D 和钙水平显著降低（p=0.04 和 <0.001）。血清维生素 D 水平与 aa 基因型显著相关（p=0.007）。血清钙水平与 AA 基因型显著相关（p=0.02）。BsmI 多态性与维生素 D 和 Ca 水平无显著差异（p=0.25 和 0.87）。维生素 D 受体基因 BsmI 多态性而非 ApaI 多态性可能是 RA 易感性的标志物。维生素 D 和 Ca 水平受 RA 影响呈负相关。维生素 D 受体基因 ApaI 多态性有助于维生素 D 和 Ca 水平。
