title: Is the CCR5 Δ 32 mutation associated with immune system-related diseases?
abstract: Hypersensitivity and autoimmunity are the main features of immune system-related diseases such as type 2 diabetes (T2D), multiple sclerosis (MS), and asthma. It has been established that chemokines play key roles in the activation and regulation of immune cell migration which is important in the pathogenesis of the diseases mentioned. CC chemokines receptor 5 or CCR5 is a receptor for RANTES, MIP-1α, and MIP-1β and is expressed by several immune cells including NK cells, T lymphocytes, and macrophages. It plays key roles in the regulation of migration and activation of the immune cells during immune responses against microbe and self-antigens during autoimmunity and hypersensitivity disorders. Therefore, any alteration in the sequence of CCR5 gene or in its expression could be associated with immune system-related diseases. Previous studies revealed that a 32-base pair deletion (Δ 32) in exon 1 of the CCR5 gene led to downregulation of the gene. Previous studies demonstrated that not only CCR5 expression was altered in autoimmune and hypersensitivity disorders, but also that the mutation is associated with the diseases. This review addresses the recent information regarding the association of the CCR5 Δ 32 mutation in immune-related diseases including T2D with and without nephropathy, MS, and asthma. Based on the collected data, it seems that the CCR5 Δ 32 mutation can be considered as a risk factor for MS, but not asthma and T2D with and without nephropathy.
authors.affiliation: Department of Immunology, Faculty of Medicine, AJA University of Medical Sciences, Tehran, Iran.
authors.forename: Khodayar
authors.initials: K
authors.lastname: Ghorban
authors.forename: Maryam
authors.initials: M
authors.lastname: Dadmanesh
authors.forename: Gholamhossein
authors.initials: G
authors.lastname: Hassanshahi
authors.forename: Mohammad
authors.initials: M
authors.lastname: Momeni
authors.forename: Mohammad
authors.initials: M
authors.lastname: Zare-Bidaki
authors.forename: Mohammad Kazemi
authors.initials: MK
authors.lastname: Arababadi
authors.forename: Derek
authors.initials: D
authors.lastname: Kennedy
mesh_terms: D001249:Asthma / Q000235:genetics* / Q000276:immunology; D001324:Autoantigens / Q000235:genetics / Q000276:immunology; D003924:Diabetes Mellitus, Type 2 / Q000235:genetics* / Q000276:immunology; D006801:Humans; D007249:Inflammation / Q000235:genetics / Q000276:immunology; D009103:Multiple Sclerosis / Q000235:genetics* / Q000276:immunology; D019713:Receptors, CCR5 / Q000235:genetics*; D013601:T-Lymphocytes / Q000276:immunology
chemical_list: D001324:Autoantigens; D019713:Receptors, CCR5