中东卡塔尔人群中维生素D缺乏的遗传决定因素:全基因组关联研究研究
Nagham Nafiz Hendi1, Yasser Al-Sarraj2,3, Umm-Kulthum Ismail Umlai2
1Division of Biological and Biomedical Sciences, College of Health and Life Sciences, Hamad Bin Khalifa University, Doha, Qatar.
Frontiers in nutrition
|October 16, 2023
概括
这项研究确定了中东地区维生素D水平的遗传因素,揭示了维生素D缺乏的人口特异性遗传结构. 欧洲风险评分在卡塔尔仍然显示出相关性.
科学领域:
- 遗传学 是一个遗传学.
- 人体生理学 人体生理学
- 人口健康 人口健康
背景情况:
- 维生素D缺乏症在中东人口中非常普遍.
- 关于维生素D水平的遗传研究主要集中在欧洲祖先身上.
研究的目的:
- 进行第一个全基因组关联研究 (GWAS) 对中东队列中维生素D水平.
- 确定卡塔尔人维生素D水平的新型遗传决定因素.
- 评估卡塔尔人群中维生素D的欧洲衍生的多基因风险评分 (PRS) 的可转移性.
主要方法:
- 全基因组测序和GWAS对来自卡塔尔生物银行 (QBB) 的6047名个人进行了测序.
- 一项元分析将QBB数据与英国生物银行欧洲GWAS数据 (345,923个人) 结合起来.
- 欧洲衍生的PRS在QBB队列中进行了预测性能的测试.
主要成果:
- 已知维生素D结合蛋白基因 (GC) 的一个已知变异,rs2298850,与维生素D水平有关.
- 11号染色体上的两个新型变异 (rs67609747,rs1945603) 在分析中达到GWAS显著性.
- 卡塔尔人的维生素D遗传率估计为18%;欧洲PRS显示出卡塔尔维生素D缺乏风险的预测能力显著,尽管减少.
结论:
- 这项研究阐明了卡塔尔人口中维生素D水平的基因架构.
- 研究结果突出显示,在不同人群中维生素D调节的显著遗传异质性.
- 尽管有人口差异,但欧洲遗传风险评分为中东人提供了对维生素D状况的一些预测价值.
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