Functional genetic variants in substance use disorders

项目总结： Gwas分析已经(并将继续)检测到影响阿尔茨海默病风险的基因和 相关痴呆症，但这些基因座通常包含数百到数千个变异，而GWA不能识别 哪些变异和基因实际上会影响风险。因此，功能分析是必要的，以确定 基因座中实际影响风险的SNPs和基因，以深入了解 疾病，并导致后续更好的治疗。父赠款使用高通量分析来识别， 在与物质使用障碍相关的基因座上，影响基因表达的功能性SNPs和 它们影响的基因和途径。这项补充资料将把资助范围扩大至目标地区。 与阿尔茨海默病和相关痴呆有关，从而提供关于疾病的重要数据 机制和潜在的治疗方法。

Project Summary: GWAS assays have (and will continue to) detected loci that influence the risk for Alzheimer’s disease and related dementias, but the loci usually contain hundreds to thousands of variants and GWAS do not identify which variants and genes actually affect the risk. Therefore, functional assays are necessary to identify the SNPs and genes within a locus that actually affect risk, to give insights into the mechanisms underlying the disorders and leads to follow for better treatment. The parent grant uses high-throughput assays to identify, within loci relevant to Substance Use Disorders, the functional SNPs that affect gene expression and the genes and pathways they affect. This supplement will expand the scope of the funded grant to target loci relevant to Alzheimer’s disease and related dementias, and thereby provide important data on disease mechanisms and potential therapies.