Chromosome 6q and Diabetes In African Americans

非裔美国人的 6q 染色体与糖尿病

• 批准号: 7095981
• 负责人: Keith L Keene
• 金额: $ 4.14万
• 依托单位: WAKE FOREST UNIVERSITY HEALTH SCIENCES
• 依托单位国家: 美国
• 财政年份: 2005
• 资助国家: 美国
• 起止时间: 2005-07-15 至 2008-07-14
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/7095981
• 关键词: African American; MCF7 cell; bioinformatics; clinical research; diabetes mellitus genetics; estrogen receptors; genetic susceptibility; human genetic material tag; human subject; linkage mapping; noninsulin dependent diabetes mellitus; single nucleotide polymorphism

DESCRIPTION (provided by applicant): This application proposes to identify the gene(s) contributing to the 6q linkage peak that has been identified in African American families that have type 2 diabetes mellitus (T2DM). The positional cloning method will be used to evaluate and determine potential candidate genes in this region. We believe we have identified a novel diabetes gene in this region, Estrogen Receptor alpha (ESR1), which would represent the first diabetes gene positionally identified using data from an African American population. We aim to further explore single nucleotide polymorphisms and haplotypes that show association with T2DM in ESR1, as well as analyze SNPs in additional candidate genes, in order to determine if there is any association in those genes as well. Association findings will then be analyzed through functional assays to determine if there is the associated SNPs/haplotypes serve a biological function. Understanding how polymorphisms in ESR1, or any other candidate genes located under the 6q linkage peak, will provide critical information that will aid in understanding the pathophysiology of T2DM and how these variations contribute to the disease across different populations.

描述（由申请人提供）：本申请建议识别有助于6Q连锁峰的基因，该基因在患有2型糖尿病（T2DM）的非洲裔美国家庭中已鉴定出来。位置克隆方法将用于评估和确定该区域的潜在候选基因。我们认为，我们已经确定了该地区的一种新型糖尿病基因，即雌激素受体α（ESR1），该基因将代表使用非裔美国人人群的数据位置鉴定的第一个糖尿病基因。我们旨在进一步探索与ESR1中与T2DM相关的单核苷酸多态性和单倍型，并分析其他候选基因中的SNP，以确定这些基因中是否存在任何关联。然后，将通过功能测定法分析关联发现，以确定是否存在相关的SNP/单倍型发挥生物学功能。了解ESR1中的多态性或位于6Q连锁峰下的任何其他候选基因如何提供关键信息，有助于理解T2DM的病理生理学以及这些变异如何促进不同人群的疾病。