CIP Genomics Core

Division Of Basic Sciences - Nci

Investigators

Linked publications, trials & patents

Abstract

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.