糖氧化酶-1基因变异影响高氧化尿和结石发育的风险
Yash P Patel1, Sandip B Patel2, Priyal Patel3
1Department of Clinical Pharmacy, Ramanbhai Patel College of Pharmacy, Charotar University of Science and Technology, Changa, Anand, Gujarat, 388421, India.
World journal of urology
|January 12, 2024
概括
糖氧化酶-1 (GOX1) 基因中的遗传变异与印度结石风险增加有关. 特定的GOX1基因型,特别是高氧化尿,显著提高对结石疾病的易感性.
科学领域:
- 遗传学 遗传学 是一个
- 腎臟病學 (nephrology) 是一種醫學專業.
- 代谢障碍 代谢障碍 代谢障碍
背景情况:
- 氧沙酸盐是主要由肝脏产生的主要结合剂,在结石形成中起作用.
- 糖氧化酶-1 (GOX1) 基因对于代谢糖和糖酸盐至关重要,导致氧酸盐的产生.
研究的目的:
- 研究GOX1基因的遗传变异与高氧沙流和结石疾病的风险之间的关联.
- 专注于印第安人群体,以了解对结石的遗传倾向.
主要方法:
- 一项前性病例控制研究,涉及300名参与者 (150例,150例对照) 在印度古吉拉特邦.
- 生物化学标记物 (血清,肌,甲状腺激素) 和24小时尿液代谢物的分析.
- 使用TaqMan测定和RT-PCR进行特定GOX1基因变异 (rs6086287,rs2235250,rs2255183,rs2294303) 的基因定型.
主要成果:
- 在患有甲状腺瘤的患者中观察到甲状腺激素,血清肌素和尿液代谢物的升高.
- 研究的GOX1变体的同卵性基因型 (GG,TT,GG,CC) 与较高的结石疾病风险显著相关.
- 患有高氧化尿症的个体的特定基因型 (TG,AG,TT) 也显示出与增加结石风险的显著关联.
结论:
- 在GOX1基因中的遗传变异被证明与患结石疾病的风险增加有关.
- 风险基因型和高氧化尿的存在协同调节了对结石疾病的敏感性.
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