尿石症中维生素 D 受体的基因变异(TaqI T > C (rs731236) 和 BsmI G > A (rs1544410)

A. Seyedzadeh, Z. Rahimi, M. Tohidi, Nargece Soraya
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引用次数: 0

摘要

背景:尿路结石是由遗传、环境因素和代谢缺陷引起的最常见的泌尿生殖系统疾病。研究目的本研究旨在发现维生素 D 受体(VDR)TaqI 和 BsmI 基因多态性与血清钙(Ca)和维生素 D 水平及尿路结石风险之间可能存在的关联。研究方法本病例对照研究采用聚合酶链式反应-限制长度多态性方法,对 68 名尿路结石患儿和 67 名健康对照者进行了 VDR 基因多态性检测。结果显示患者的 TaqI C 等位基因频率为 36%,而对照组为 32.1%(P = 0.49)。在年龄大于 5 至 10 岁的患者中,TaqI CC 基因型的频率明显较高。患者(41.9%)和对照组(42.5%,P = 0.91)的 BsmI A 等位基因频率没有明显差异。然而,与血钙值大于 10.8 mg/dL 的患者相比,血钙值小于 10.8 mg/dL 的患者的 BsmI AA 基因型频率明显较低。结论根据研究结果,伊朗西部儿童的 VDR TaqI 和 BsmI 多态性与罹患尿石症的风险没有关联。不过,在 5 至 10 岁年龄组中,TaqI CC 基因型的频率较高。此外,患者体内钙含量较低与 BsmI AA 基因型频率明显较低有关。VDR基因BsmI多态性可能会影响尿石症患者的血钙水平和钙代谢。
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Gene Variants of Vitamin D Receptor (TaqI T > C (rs731236) and BsmI G > A (rs1544410) in Urolithiasis
Background: Urolithiasis is the most prevalent uronephrologic disorder caused by genetic, environmental factors, and metabolic defects. Objectives: The present study aimed to find a possible association between the vitamin D receptor (VDR) TaqI and the BsmI gene polymorphisms in relation to the serum levels of calcium (Ca) and vitamin D and the risk of urolithiasis. Methods: This case-control study was conducted on 68 children with urolithiasis and 67 healthy controls for the VDR gene polymorphisms using the polymerase chain reaction-restriction length polymorphism method. Results: The frequency of TaqI C allele was 36% in patients compared to 32.1% in controls (P = 0.49). A significantly higher frequency of the TaqI CC genotype was found among patients in the age group > 5 to 10 years. No significant difference was detected in the frequency of the BsmI A allele between patients (41.9%) and controls (42.5%, P = 0.91). However, a significantly lower frequency of the BsmI AA genotype was detected compared to those patients with Ca levels of > 10.8 mg/dL among patients with Ca levels of ≤ 10.8 mg/dL. Conclusions: Based on the results, a lack of an association between the VDR TaqI and BsmI polymorphisms with the risk of urolithiasis among children from Western Iran. However, a higher frequency of the TaqI CC genotype was found in the age group > 5 to 10 years. In addition, lower levels of Ca in patients were related to a significantly lower frequency of the BsmI AA genotype. The VDR gene BsmI polymorphism might affect the calcium level and the calcium metabolism in urolithiasis.
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