Variation of vitamin D metabolism and regulatory genes in the Yup’ik population

 描述（由申请人提供）：维生素D水平随阳光供应和饮食差异而季节性变化。维生素D水平的季节性变化在高纬度地区尤其明显，因为那里可能没有充足的阳光，例如生活在北极圈内的Yup'ik Alaska土著社区（北纬66° 33'）。以前的研究表明，海洋哺乳动物和鱼类含量高的传统饮食可能有助于Yup'ik人的维生素D水平高，但最近的趋势表明，传统饮食摄入量正在下降 由于转向更西化的食物，这可能导致Yupik年轻人缺乏维生素D。维生素D缺乏是一个普遍的公共卫生问题，与癌症，心脏病和许多其他疾病的风险增加有关。尽管有证据表明维生素D（25（OH）D3）浓度的变异性是可遗传的，但目前的遗传文献仅 解释了一小部分遗传性。该提案旨在确定和表征维生素D代谢和调控基因的遗传变异，并在Yup'ik阿拉斯加土著志愿者的横截面中寻找与血清维生素D（25（OH）D3）水平和传统饮食的关联。为此，我建议应用新技术来确定血清25（OH）D3变异的基因组来源，并探讨Yup'ik人的看法，理解和期望的研究涉及基因组医学。这些发现将促进我们对维生素D不足的理解;确定涉及Yup'ik人的基因组研究的促进因素和障碍;并定位学术研究合作者，以解决阿拉斯加原住民当前和未来的健康优先事项和精准医学技术问题。

 DESCRIPTION (provided by applicant): Vitamin D levels vary seasonally with sunlight availability and with differences in diet. Seasonal variation of vitamin D levels is especially apparent at high latitudes where adequate sunlight may not be available, such as in Yup'ik Alaska Native communities living within the Arctic Circle (66°33'N). Previous research has shown that a traditional diet high in marine-mammals and fish may contribute to the high levels of vitamin D in Yup'ik people, but recent trends show that the traditional diet intake is declining due to shifts to more Westernized foods, and this may result in vitamin D deficiency in Yup'ik young adults. Vitamin D deficiency is a widespread public health problem that is linked to increased risk for cancer, heart disease, and many other conditions. Despite evidence that variability in vitamin D (25(OH)D3) concentration is heritable, the current genetic literature only explains a small percentage of the heritability. This proposal seeks to identify and characterize genetic variation in vitamin D metabolism and regulatory genes and to look for associations with serum vitamin D (25(OH)D3) levels and traditional diet in a cross-section of Yup'ik Alaska Native volunteers. To this end, I propose to apply novel technologies to identify genomic sources of serum 25(OH)D3 variability and to explore Yup'ik people's perceptions, understandings, and expectations for research involving genomic medicine. These findings will advance our understanding of vitamin D insufficiency; identify the facilitators and barriers to genomic research involving Yup'ik people; and position academic research collaborators to address current and future health priorities and concerns with precision medicine technologies in Alaska Native people.