Functional genetic variants in substance use disorders

项目摘要： GWAS检测已经（并将继续）检测影响阿尔茨海默病风险的基因座， 相关痴呆，但基因座通常包含数百至数千个变异，GWAS不能识别 哪些变异和基因会影响患病风险因此，功能测定是必要的，以确定 基因座内的SNP和基因实际上会影响风险，以深入了解潜在的机制， 疾病和导致遵循更好的治疗。父母补助金使用高通量测定来识别， 在与物质使用障碍相关的基因座内，影响基因表达的功能性SNP和 影响的基因和途径。这一补充将扩大资助的范围，以目标地点 与阿尔茨海默病和相关痴呆症相关，从而提供关于疾病的重要数据， 机制和潜在的治疗。

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.