Alharazy Shatha
Shatha Matoug Alharazy, MBBS, MRes, PhD Assistant Professor in Department of Physiology, Faculty of Medicine, King Abdulaziz University, Jeddah 21589, Kingdom of Saudi Arabia. Email:
Pak J Med Sci. 2024 Sep;40(8):1753-1758. doi: 10.12669/pjms.40.8.9318.
BACKGROUND & OBJECTIVE: Hypovitaminosis D has shown to be linked with T2DM development and control in numerous studies. The association of SNPs in genes related to VitD metabolism with T2DM has not been sufficiently studied. Consequently, our aim in the present study was to explore the association between genetic variants in genes connected with VitD, mainly a SNP in GC (rs1155563), a SNP in DHCR7 (rs12785878) and a SNP in CYP2R1 (rs10500804) with glycaemic parameters in females with T2DM in Saudi Arabia.
The cross-sectional study included 149 females (age 38-52 years) with T2DM from Jeddah, Saudi Arabia (September 2022-March 2023). Blood was extracted from the participants for biochemical tests including measuring VitD [25(OH)D] concentration, parameters of glycaemia (HbA1c, insulin, fasting glucose and insulin sensitivity indices including HOMA2-IR and HOMA2-%β), and for genomic DNA isolation. Sanger DNA sequencing was used to screen for VitD genetic polymorphisms (rs1155563, rs12785878 and rs10500804).
Minor allele frequency for rs1155563C, rs12785878T and rs10500804G was 0.21, 0.23 and 0.37, respectively. Levels of 25(OH)D and glycaemic parameters as well did not show any significant difference between the genotypes of each SNP.
This study showed lack of association of rs1155563 in GC, rs12785878 in DHCR7 and rs10500804 in CYP2R1 with VitD level primarily and with glycaemic parameters secondarily. Additional research is required to explore further other VitD genetic polymorphisms influencing T2DM which might lead consequently to genetically-based personalized management for T2DM.
众多研究表明维生素D缺乏与2型糖尿病的发生及控制有关。维生素D代谢相关基因中的单核苷酸多态性(SNP)与2型糖尿病的关联尚未得到充分研究。因此,我们在本研究中的目的是探讨与维生素D相关基因中的遗传变异,主要是GC基因中的一个SNP(rs1155563)、DHCR7基因中的一个SNP(rs12785878)和CYP2R1基因中的一个SNP(rs10500804)与沙特阿拉伯2型糖尿病女性血糖参数之间的关联。
这项横断面研究纳入了149名来自沙特阿拉伯吉达的2型糖尿病女性(年龄38 - 52岁)(2022年9月至2023年3月)。从参与者身上采集血液进行生化检测,包括测量维生素D [25(OH)D]浓度、血糖参数(糖化血红蛋白、胰岛素、空腹血糖以及胰岛素敏感性指数,包括HOMA2-IR和HOMA2-%β),并用于基因组DNA分离。采用桑格DNA测序法筛选维生素D基因多态性(rs1155563、rs12785878和rs10500804)。
rs1155563C、rs12785878T和rs10500804G的次要等位基因频率分别为0.21、0.23和0.37。每个SNP的基因型之间,25(OH)D水平和血糖参数也均未显示出任何显著差异。
本研究表明,GC基因中的rs1155563、DHCR7基因中的rs12785878和CYP2R1基因中的rs10500804主要与维生素D水平无关,其次与血糖参数也无关。需要进一步开展研究,以探索其他影响2型糖尿病的维生素D基因多态性,这可能最终导致基于基因的2型糖尿病个性化管理。