Montazeri-Najafabady Nima, Dabbaghmanesh Mohammad Hossein
Endocrinology and Metabolism Research Center, Shiraz University of Medical Sciences, Shiraz, Iran.
Biochem Genet. 2024 Jun 4. doi: 10.1007/s10528-024-10826-1.
Osteoporosis is a common disorder with a strong genetic component. Bone mineral density (BMD), vitamin D, and calcium levels declining are a main contributor of osteoporosis and fragility fractures. This cross-sectional study designed to explore the possible link between CYP2R1 rs10741657 polymorphism and BMD of the total hip, lumbar spine and femoral neck, vitamin D, and calcium in Iranian children and adolescents. 247 children and adolescents (127 girls and 120 boys) between 9 and 18 years old from Kawar (an urban area located 50 km east of Shiraz, the capital city of the Fars province in the south of Iran) were randomly selected based on age-stratified systematic sampling and recruited for genetic analysis. The polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method was used for genotyping CYP2R1 rs10741657. Anthropometric, biochemical, and bone mineral density (BMD) parameters were also measured. The results specified that in the dominant [P < 0.0001, - 2.943 (- 4.357-1.529)] and over-dominant [P < 0.0001, 2.789 (1.369-4.209)] models, vitamin D concentration significantly differed between genotypes. The highest vitamin D levels were displayed for participants carrying the rs10741657 AG genotype (16.47 ng/ml). In regard to calcium, in a dominant model [P = 0.012, 0.194 (0.043-0.345)] and over-dominant model [P = 0.008, 0.206 (- 0.357-0.055), there was a significant association. AG genotype displayed the highest (9.96 mg/dl) and GG genotype the lowest (9.75 mg/dl) calcium values. This study reported the association of CYP2R1 rs10741657 polymorphisms with calcium and vitamin D levels in Iranian children and adolescents.
骨质疏松症是一种具有很强遗传成分的常见病症。骨矿物质密度（BMD）、维生素D和钙水平下降是骨质疏松症和脆性骨折的主要促成因素。本横断面研究旨在探讨伊朗儿童和青少年中CYP2R1 rs10741657多态性与全髋、腰椎和股骨颈的骨矿物质密度、维生素D及钙之间的可能联系。基于年龄分层系统抽样，从卡瓦尔（位于伊朗南部法尔斯省省会设拉子以东50公里的一个市区）随机选取了247名9至18岁的儿童和青少年（127名女孩和120名男孩），并招募他们进行基因分析。采用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）方法对CYP2R1 rs10741657进行基因分型。还测量了人体测量学、生化和骨矿物质密度（BMD）参数。结果表明，在显性模型[P < 0.0001, - 2.943(- 4.357 - 1.529)]和超显性模型[P < 0.0001, 2.789(1.369 - 4.209)]中，各基因型之间的维生素D浓度存在显著差异。携带rs10741657 AG基因型的参与者维生素D水平最高（16.47 ng/ml）。关于钙，在显性模型[P = 0.012, 0.194(0.043 - 0.345)]和超显性模型[P = 0.008, 0.206(- 0.357 - 0.055)]中，存在显著关联。AG基因型的钙值最高（9.96 mg/dl），GG基因型最低（9.75 mg/dl）。本研究报告了伊朗儿童和青少年中CYP2R1 rs10741657多态性与钙和维生素D水平的关联。
