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全基因组基因环境相互作用研究发现了162种维生素D状态变异,使用精确的环境UVB测量方法
Rasha Shraim1,2,3, Maria Timofeeva4,5,6, Cathy Wyse7,8
1Department of Public Health and Primary Care, Institute of Population Health, Trinity College Dublin, Dublin, Ireland.
遗传和环境因素影响维生素D水平. 这项研究确定了307个与25-氧维生素D (25OHD) 度相关的遗传变异,揭示了维生素D状态和昼夜节律之间的联系.
科学领域:
- 遗传学 遗传学 是一个
- 营养科学 营养科学
- 环境健康 环境健康
背景情况:
- 维生素D的状况受到遗传倾向和环境因素的结合的影响,而来自阳光的紫外线B (UVB) 辐射是主要决定因素.
- 了解遗传因素,UVB等环境暴露和维生素D水平之间的相互作用对于公共卫生和个性化医学至关重要.
研究的目的:
- 进行全基因组关联研究 (GWAS),以确定与25-氧维生素D (25OHD) 度相关的遗传变异.
- 调查环境UVB暴露对25OHD.HD的SNP遗传性的影响.
- 探索维生素D代谢,昼夜节律和季节性生理变化之间的潜在联系.
主要方法:
- 利用了338,977名英国白人参与者的英国生物库数据.
- 基于居住地址和采样日期的卫星天气数据,估计每个参与者的环境UVB剂量.
- 进行全基因组关联测试,对包括年龄,性别,补充剂使用,UVB剂量和人口结构主要组件在内的共变量进行调整.
- 应用边际,主要和相互作用以及联合效应模型来分析遗传关联.
主要成果:
- 确定了307个与25OHD度相关的基因变异,并发现了162个新发现.
- 通过增加环境UVB暴露五分位数 (从8.48%到15.56%) 证明了25OHD的SNP遗传性增加.
- 下游基因注释涉及25OHD通路内的基因,特别是昼夜调节器BMAL1.1.
结论:
- 维生素D状态和昼夜节律似乎相互关联.
- 维生素D代谢物可能在调节季节性生理波动方面发挥作用,这可能解释了与脂质代谢途径的关联.
- 遗传和环境因素对维生素D水平的变化有很大影响,这对理解更广泛的生理过程有影响.
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