CIP Genomics Core

CIP 基因组学核心

• 批准号: 8350149
• 负责人: Colm Ohuigin
• 金额: $ 105.15万
• 依托单位: DIVISION OF BASIC SCIENCES - NCI
• 依托单位国家: 美国
• 资助国家: 美国
• 起止时间: 至
• 项目状态: 未结题
• 来源: https://reporter.nih.gov/project-details/8350149
• 关键词: 3' Untranslated Regions; Affect; Binding Sites; Bioinformatics; Biological Assay; Cohort Analysis; Colon Carcinoma; Copy Number Polymorphism; Data; Disease; Epidemiology; Gene Conversion; Gene Expression; Generations; Genes; Genetic; Genetic Polymorphism; Genetic Programming; Genome; Genomics; Genotype; HIV; HLA Antigens; HLA-B Antigens; HLA-C Antigens; Health; Hepatitis C; Hepatitis C virus; Human; Human Genome; Infection; Inflammation; Integration Host Factors; Location; Malignant Neoplasms; Malignant neoplasm of prostate; Manuscripts; MicroRNAs; Mission; Multi-Drug Resistance; Mutation; Outcome; Predisposition; Preparation; Principal Investigator; Publications; Publishing; Research Personnel; Research Support; Role; Sampling; Sequence Analysis; Site; Somatic Mutation; Transplantation; Viral Load result; Virus Diseases; Work; cancer stem cell; cohort; comparative; genetic analysis; genetic epidemiology; killer immunoglobulin-like receptor; mouse model; programs

Genotyping and Genetic Epidemiology. The CIP Genetics Core (CIPGC) has been active in both the generation of genotypic data and in the statistical, bioinformatic and epidemiological analysis of the genetic data. In particular, the work of the Genetics Core over the past year has been used by CIP principal investigators to establish findings for 7 published manuscripts. The CIPGC participated in the study of genetic factors involved in the control of HIV viral load. Manuscripts identified genomic locations in the human genome of major effects in such control. In particular, a region of the 3 untranslated region of the HLA-C gene is targeted by a microRNA resulting in reduced expression of the gene and higher human immunodeficiency virus (HIV) viral loads. We are supporting research investigating the mechanism by which polymorphism in the target site of the microRNA arise and how this affects outcomes in HIV disease and also initiating efforts into possible roles for this polymorphism in transplantation outcomes. We have been involved in analysis of HLA-C genomic sequences that enabled us to identify the polymorphisms of the binding site and the donor sequence involved in gene conversion at the site. Another host genome effect in HIV infection was characterized as a reduction in viral loads associated with the DRB1*1303 gene. Ongoing work into the role of the human IL28B gene in control of hepatitis C virus (HCV) infection has resulted in one publication indicating that none of the suspected polymorphisms of the gene is causal for higher rates of spontaneous clearance of HCV. Other published work has involved the characterization of the role of transporter genes in multidrug resistance in cancer stem cells.

基因分型和遗传流行病学。 CIP遗传学核心（CIPGC）在基因型数据的产生以及遗传数据的统计，生物信息学和流行病学分析中都活跃。特别是，过去一年中，遗传学核心的工作已被CIP首席研究人员用于建立7项已发表手稿的发现。 CIPGC参与了参与控制HIV病毒载量的遗传因素的研究。手稿确定了这种对照中主要作用的人类基因组中的基因组位置。特别是，HLA-C基因的3个未翻译区域的一个区域是由microRNA靶向的，导致基因表达降低和较高的人类免疫缺陷病毒（HIV）病毒载量。我们支持研究研究microRNA目标部位的多态性的机制，以及这如何影响HIV疾病的结局，并在移植结果中发挥这种多态性的作用。我们参与了HLA-C基因组序列的分析，这使我们能够鉴定结合位点的多态性以及与该位点基因转化有关的供体序列。 HIV感染中另一种宿主基因组效应的特征是与DRB1*1303基因相关的病毒载量减少。正在进行的人类IL28B基因在控制丙型肝炎病毒（HCV）感染中的作用中的作用导致了一份出版物，表明该基因的可疑多态性均未因HCV的自发清除率较高而是因果关系。其他发表的工作涉及转运蛋白基因在癌症干细胞中多药耐药性中的作用的表征。