Biospecimen Core

生物样本核心：摘要 美洲印第安人和阿拉斯加原住民（AI/AN）以及夏威夷原住民和太平洋岛民（NHPI） 许多健康状况的差异，包括阿尔茨海默病和相关痴呆症（ADRD）。然而这些 种群仍然研究不足，因此我们缺乏生物标本和其他数据来识别它们。 ADRD的生物和遗传风险因素。数据库可以说明问题的严重性 国家阿尔茨海默氏症协调中心，该中心仅从135个AI/AN中收集了APOE基因型， 和17个NHPI。生物标志物数据的缺乏尤其令人担忧，因为现存的 文献表明，APOE ε 4等位基因与AI或查莫罗人的痴呆无关 这与美国非原住民的调查结果形成鲜明对比。这样的人口- 具体的差异突出了AI/AN和NHPI之间稳健的生物标本采集的必要性。 不幸的是，很少有遗传学研究已经在他们的社区进行，因为生物标本收集往往是 被AI/ANs，NHPI和其他土著居民负面看待。然而，我们已经证明，AI/AN是 如果社区利益相关者帮助设计项目，收集数据， 解释结果。国家卫生机构也报告了类似的生物库调查结果。生物样本核心将是 由夏威夷土著人John Kauwe博士共同领导，他因在ADRD遗传学方面的工作而享誉国际 以及ADRD生物信息学和基因组测序专家佩里里奇博士 生物标志物，都来自杨百翰大学。该核心将有权访问AI/AN捐赠的生物标本 通过若干来源，包括NEAR研究项目2和3以及"人才培训"讲习班， 我们的8个卫星中心在美国90%的AI/AN和NHPI居住的地区进行。具体 生物样本核心的目的是：1）从参与者收集的生物样本中分离和储存DNA 研究项目，卫星中心活动和其他来源。我们预计将收集约2,700个唾液 与来自AI/AN和NHPI的自我报告和客观数据相关的样本，以及未来约390份血液样本 生物标志物研究; 2）最初使用Illumina Omni2.5收集并验证每个唾液样品的基因型 阵这些数据将用于评估赋予ADRD风险的基因和变体，如APOE; 3）提供 ADRD的关键疾病标志物和多基因风险评分的注释基因型数据;以及4）用作 用于处理、存储和编目正在进行和未来研究中获得的生物标本的资源， AI/AN和NHPI队列。生物标本和数据集将通过现有和新的伙伴关系提供 这将阐明这些群体的遗传风险。国家老龄问题研究所致力于确保 少数群体在反种族歧视研究中的充分代表性。我们的努力将导致一个迄今为止 从AI/AN和NHPI采集的不可用生物标本。构建此存储库对于实现 研究所的承诺，并在这些人群中描述独特的ADRD遗传风险和保护概况。

BIOSPECIMEN CORE: ABSTRACT American Indians and Alaskan Natives (AI/ANs) and Native Hawaiians and Pacific Islanders (NHPIs) are subject to disparities in many health conditions, including Alzheimer’s disease and related dementias (ADRD). Yet these populations remain understudied, so that we lack the biospecimens and other data needed to identify their biological and genetic risk factors for ADRD. The magnitude of the problem can be illustrated by the database of the National Alzheimer’s Coordinating Center, which has collected APOE genotypes from only 135 AI/ANs and 17 NHPIs over the past 30 years. The paucity of biomarker data is especially concerning because extant literature suggests that the APOE ε4 allele is not associated with dementia among AIs or the Chamorro people of Guam, in sharp contrast with findings on non-Indigenous US populations. Such population- specific differences highlight the need for robust biospecimen collection among AI/ANs and NHPIs. Unfortunately, few genetic studies have been conducted in their communities, as biospecimen collection is often viewed negatively by AI/ANs, NHPIs, and other Indigenous populations. Yet, we have shown that AI/ANs are more willing to engage in genetic research if community stakeholders help design projects, collect data, and interpret results. Similar findings on biobanking have been reported for NHPIs. The Biospecimen Core will be co-led by Dr. John Kauwe, a Native Hawaiian who is internationally known for his work on the genetics of ADRD and other diseases; and Dr. Perry Ridge, an expert in bioinformatics and genomic sequencing of ADRD biomarkers, both from Brigham Young University. This Core will have access to biospecimens donated by AI/ANs and NHPIs through several sources, including NEAR Research Projects 2 and 3 and "Brain Train" workshops conducted by our 8 Satellite Centers in areas of the US where 90% of AI/ANs and NHPIs reside. The Specific Aims of the Biospecimen Core are to: 1) Isolate and store DNA from biospecimens collected from participants in Research Projects, Satellite Center activities, and other sources. We expect to assemble ~2,700 saliva samples linked to self-reported and objective data from AI/ANs and NHPIs and ~390 blood samples for future biomarker studies; 2) Collect and validate genotypes for each saliva sample initially using the Illumina Omni2.5 array. These data will be used to evaluate genes and variants that confer ADRD risk, such as APOE; 3) Provide annotated genotype data for key disease markers and polygenic risk scores for ADRD; and 4) Serve as a resource for processing, storing, and cataloging biospecimens obtained by ongoing and future studies with other AI/AN and NHPI cohorts. Biospecimens and datasets will be available through existing and new partnerships that will elucidate the genetic risk in these groups. The National Institute on Aging is committed to ensuring adequate representation of minorities in ADRD research. Our efforts will result in a large repository of hitherto unavailable biospecimens collected from AI/ANs and NHPIs. Building this repository is vital to fulfilling the Institute’s commitment and characterizing unique ADRD genetic risk and protective profiles in these populations.