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印度中部一所三级医院研究:维生素 D 缺乏症介导的青少年女性继发性甲状旁腺功能亢进症与 VDR 基因多态性的关联。

An association of VDR gene polymorphism in hypovitaminosis D mediated secondary hyperparathyroidism in adolescent girls; a tertiary hospital study in central India.

机构信息

Department of Biochemistry, All India Institute of Medical Sciences (AIIMS) Bhopal, Madhya Pradesh, India.

Department of Biochemistry, All India Institute of Medical Sciences (AIIMS) Bhopal, Madhya Pradesh, India.

出版信息

Steroids. 2022 Sep;185:109054. doi: 10.1016/j.steroids.2022.109054. Epub 2022 May 26.

Abstract

Vitamin D is required to maintain normal serum calcium and phosphate levels that help normal bone mineralization, nerve conduction, muscle contraction, immune function, cell proliferation, and differentiation. Interventions including vitamin D supplementation may not improve vitamin D deficiency, as various complex genomic actions could contribute to vitamin D deficiency in the Indian population. Thus, we assessed hypovitaminosis D's relationship with vitamin D receptor (VDR) gene polymorphism and evaluated parathyroid hormone (PTH) levels in seemingly healthy adolescent school-going girls. We included 100 school-going girls (aged 12-17 years) studying in four schools of different socio-economic strata of Bhopal, India. The selected participants were divided into four groups based on the school in which they were studying. Blood samples were tested for serum calcium, phosphorus, PTH, ALP, vitamin D 25(OH) D, and albumin levels.VDR polymorphism was detected through the PCR-RFLP. Data were analyzed using the chi-square test, ANOVA, and linear regression. The difference in the age, calcium, ALP, and vitamin D values between the four groups were significant (P < 0.05), whereas high PTH levels (80%) were found. A higher prevalence of homozygous polymorphic allele demonstrates a molecular signature for severe secondary hyperparathyroidism. Hypovitaminosis D ranged from 84.9% to 100%, and a high prevalence of VDR polymorphism was observed. Attention must be paid to the health of this age group of school-going girls as hypovitaminosis D and associated VDR gene polymorphism could be the reason for secondary hyperparathyroidism (SHPT), showing changes in bone mineral density in these adolescent girls to ensure their future health.

摘要

维生素 D 是维持正常血清钙和磷水平所必需的,这些水平有助于正常的骨矿化、神经传导、肌肉收缩、免疫功能、细胞增殖和分化。包括维生素 D 补充在内的干预措施可能无法改善维生素 D 缺乏症,因为各种复杂的基因组作用可能导致印度人群中出现维生素 D 缺乏症。因此,我们评估了维生素 D 缺乏症与维生素 D 受体(VDR)基因多态性的关系,并评估了甲状旁腺激素(PTH)水平在看似健康的青春期少女中。我们纳入了 100 名在印度博帕尔不同社会经济阶层的四所学校上学的少女(年龄 12-17 岁)。根据她们就读的学校,选择的参与者被分为四组。采集血液样本检测血清钙、磷、PTH、ALP、维生素 D 25(OH)D 和白蛋白水平。通过 PCR-RFLP 检测 VDR 多态性。使用卡方检验、方差分析和线性回归分析数据。四组间年龄、钙、ALP 和维生素 D 值的差异有统计学意义(P < 0.05),而 PTH 水平较高(80%)。纯合多态性等位基因的更高患病率表明存在严重继发性甲状旁腺功能亢进的分子特征。维生素 D 缺乏症的患病率从 84.9%到 100%不等,且 VDR 多态性的患病率较高。必须关注这一年龄组的在校少女的健康状况,因为维生素 D 缺乏症和相关的 VDR 基因多态性可能是继发性甲状旁腺功能亢进症(SHPT)的原因,这表明这些青春期少女的骨密度发生变化,以确保她们未来的健康。

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