常见和罕见的遗传变异与祖先相交,影响人类皮肤和血中胡卜素度
Yixing Han1, Savannah Mwesigwa2,3, Qiang Wu4
1Center for Precision Health Research, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD.
medRxiv : the preprint server for health sciences
|January 7, 2025
概括
遗传因素会影响血和皮肤中的胡卜素水平. 确定了与胡卜素 disposition 相关的新型遗传位点,突出了人类营养研究中多元祖先的重要性.
科学领域:
- 人类遗传学 人类遗传学
- 营养科学 营养科学
- 生物标志物研究的研究.
背景情况:
- 胡卜素是水果和蔬菜中发现的重要生物活性化合物,作为饮食摄入量的指标,并具有健康益处.
- 了解胡卜素代谢的遗传基础对于个性化的营养和健康策略至关重要.
研究的目的:
- 在人类群体中调查与血和皮肤胡卜素度的遗传关联.
- 为了确定特定的遗传基因位点和影响胡卜素水平及其配置的变异.
- 探索遗传祖先在胡卜素遗传性和新陈代谢中的作用.
主要方法:
- 在两个人类群体 (n=317) 中进行全基因组单核酸多态性 (SNP) 分析.
- 在第二个队列 (n=110) 中进行复制分析.
- 候选基因的深度测序和与胡卜素水平的关联分析.
- 对血中胡卜素度的基因型依赖性饮食影响的研究.
主要成果:
- 胡卜素度的遗传性因遗传祖先而有所不同 (h2=0.08-0.44).
- 在四个位点的10个SNP达到全基因组显著性,包括与RAPGEF1和IGSF11的关联.
- 复制IGSF11的发现,并确定了基因型依赖于食对血加密素的影响.
- 发现了 PKD1L2-BCO1 位点与血β-胡卜素之间的关联,并确定了与高皮肤胡卜素相关的CETP和APOA1 的罕见变异.
结论:
- 已经确定了影响胡卜素 disposition 的新型遗传位置.
- 遗传祖先在胡卜素的遗传性和新陈代谢中起着重要作用.
- 这些发现强调了在人类营养和遗传研究中纳入多样化的遗传祖先的必要性.
- 涉及特定基因的新陈代谢和运输的胡卜素,影响健康结果.
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