title: HIV-1/AIDS susceptibility and copy number variation in CCL3L1, a gene encoding a natural ligand for HIV-1 co-receptor CCR5.
abstract: Variations of gene copy number in the human genome are increasingly recognized as a genetic factor in phenotypic variation. Human CC chemokine ligand 3-like 1 gene (CCL3L1), which is located on human chromosome 17q11.2, is highly variable in copy number owing to having a hot spot for segmental duplications. CCL3L1, a natural ligand for HIV-1 co-receptor CCR5, is a potent HIV-1-suppressive chemokine. CCL3L1 copy number variation (CNV) is tightly linked to HIV-1/AIDS susceptibility, and a lower copy number is associated with an enhanced risk for acquiring HIV-1 and also progressing more rapidly to AIDS and death. In this article we review recent studies to evaluate the association between the CCL3L1 copy number and HIV-1/AIDS susceptibility.
authors.affiliation: Department of Molecular Pathogenesis, Medical Research Institute, Tokyo Medical and Dental University, Tokyo, Japan.
authors.forename: T
authors.initials: T
authors.lastname: Nakajima
authors.forename: G
authors.initials: G
authors.lastname: Kaur
authors.forename: N
authors.initials: N
authors.lastname: Mehra
authors.forename: A
authors.initials: A
authors.lastname: Kimura
mesh_terms: D000163:Acquired Immunodeficiency Syndrome / Q000235:genetics*; D000818:Animals; D054405:Chemokine CCL3 / Q000235:genetics* / Q000378:metabolism; D018628:Gene Dosage / Q000235:genetics*; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D015497:HIV-1 / Q000378:metabolism*; D006801:Humans; D019713:Receptors, CCR5 / Q000378:metabolism*
chemical_list: D054405:Chemokine CCL3; D019713:Receptors, CCR5