伊朗儿童和青少年（9至18岁）维生素D受体BsmI基因多态性与骨密度Z值的关联
Association of Vitamin D Receptor BsmI Gene Polymorphism with BMD Z-Score in Iranian Children and Adolescents (9 - 18 Years Old).
作者信息
Montazeri-Najafabady Nima, Dabbaghmanesh Mohammad Hossein, Mohammadian Amiri Rajee, Akbarzadeh Mahdi
机构信息
Endocrinology and Metabolism Research Center, Nemazee Hospital, Shiraz University of Medical Sciences, Shiraz, Iran.
Cellular and Molecular Research Center, Research Institute for Endocrine Sciences, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
出版信息
Int J Endocrinol Metab. 2019 Apr 23;17(2):e82677. doi: 10.5812/ijem.82677. eCollection 2019 Apr.
BACKGROUND
The vitamin D receptor (VDR) gene variants are known as the main risk factor for low bone mass.
OBJECTIVES
In this study, the association of vitamin D receptor genetic variants, BsmI (rs1544410) and FokI (rs2228570), with bone mass in Iranian children and adolescents, was evaluated.
METHODS
The study population comprised of children and adolescents aged between 9 to 18 years (FokI: 123 boys and 120 girls, BsmI: 108 boys and 110 girls). Vitamin D, calcium, phosphorus, total cholesterol (TC), High-density lipoprotein-cholesterol (HDL-C) and triglyceride (TG) concentrations were assayed. Bone mineral density and body composition parameters were measured by the Hologic system DXA. BMD Z-score ≤ -2 was considered as low bone density for chronologic age. PCR-restriction fragment length polymorphism was done for genotyping of BsmI and FokI polymorphisms. The association between VDR variants and bone mineral density was investigated using logistic regression analysis.
RESULTS
No significant differences in body composition and biochemical parameters were detected among the evaluated VDR genotypes. For VDR BsmI, the mean values for Z-score of the lumbar spine, neck, inter and total femur was greater in the bb genotype compared to BB and Bb genotypes. Logistic regression analysis revealed a significant association between femoral neck Z-score and VDR BsmI genotypes in an additive genetic model (unadjusted model (P = 0.035; Bb vs. bb), model 1 (adjusted for age and sex, P = 0.021; Bb vs. bb), model 2 (adjusted for age, sex and BMI, P = 0.013; Bb vs. bb) and model 3 (adjusted for age, sex, BMI and puberty, P = 0.011; Bb vs. bb, P = 0.049; BB vs. bb)) and dominant genetic model ((unadjusted model, P = 0.033; BB+Bb vs. bb), model 1 (adjusted for age and sex, P = 0.023; BB+Bb vs. bb), model 2 (adjusted for age, sex and BMI, P = 0.012; BB+Bb vs. bb and model 3 (adjusted for age, sex, BMI and puberty, P = 0.012; BB+Bb vs. bb)).
CONCLUSIONS
This investigation indicated that VDR BsmI polymorphism may be associated with BMD Z-score of the femoral neck but not the lumbar spine, in Iranian children and adolescents.
背景
维生素D受体（VDR）基因变异是已知的低骨量主要危险因素。
目的
在本研究中，评估了维生素D受体基因变异BsmI（rs1544410）和FokI（rs2228570）与伊朗儿童和青少年骨量的关联。
方法
研究人群包括9至18岁的儿童和青少年（FokI：123名男孩和120名女孩，BsmI：108名男孩和110名女孩）。检测了维生素D、钙、磷、总胆固醇（TC）、高密度脂蛋白胆固醇（HDL-C）和甘油三酯（TG）的浓度。采用Hologic系统双能X线吸收仪测量骨密度和身体成分参数。将按实际年龄计算的骨密度Z评分≤ -2视为低骨密度。采用聚合酶链反应-限制性片段长度多态性方法对BsmI和FokI多态性进行基因分型。使用逻辑回归分析研究VDR变异与骨密度之间的关联。
结果
在评估的VDR基因型之间，未检测到身体成分和生化参数的显著差异。对于VDR BsmI，与BB和Bb基因型相比，bb基因型的腰椎、颈部、股骨中段和全股骨Z评分的平均值更高。逻辑回归分析显示，在加性遗传模型中，股骨颈Z评分与VDR BsmI基因型之间存在显著关联（未校正模型（P = 0.035；Bb与bb相比），模型1（校正年龄和性别，P = 0.021；Bb与bb相比），模型2（校正年龄、性别和BMI，P = 0.013；Bb与bb相比）和模型3（校正年龄、性别、BMI和青春期，P = 0.011；Bb与bb相比，P = 0.049；BB与bb相比））以及显性遗传模型（（未校正模型，P = 0.033；BB + Bb与bb相比），模型1（校正年龄和性别，P = 0.023；BB + Bb与bb相比），模型2（校正年龄、性别和BMI，P = 0.012；BB + Bb与bb相比）和模型3（校正年龄、性别、BMI和青春期，P = 0.012；BB + Bb与bb相比））。
结论
本研究表明，在伊朗儿童和青少年中，VDR BsmI多态性可能与股骨颈的骨密度Z评分相关，但与腰椎无关。
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