title: Genetic polymorphisms in cytotoxic T-lymphocyte antigen 4 and cancer: the dialectical nature of subtle human immune dysregulation.
abstract: Genetic polymorphisms in the human genome are an important component of genotypic variability including one's immune status. Single nucleotide polymorphisms (SNPs) in the cytotoxic T-lymphocyte antigen 4 (CTLA-4) gene have been linked to susceptibility to autoimmune disease. Interestingly, we have recently shown that an SNP in the CTLA-4 coding region (49A > G) is also associated with susceptibility to human cancer, but the risk allele for susceptibility to cancer (allele A) is the opposite of that found for susceptibility to autoimmune disease (allele G), which has been confirmed by a meta-analysis of reported studies. These findings indicate an important role of the dialectical nature of T-cell immune dysregulation in human disorders, such as autoimmune disease and cancer. The requisites of CTLA-4 polymorphisms for susceptibility to cancer and response to targeted therapy are discussed in this review.
authors.affiliation: Department of Etiology and Carcinogenesis, Cancer Institute and Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.
authors.forename: Tong
authors.initials: T
authors.lastname: Sun
authors.forename: Zhibin
authors.initials: Z
authors.lastname: Hu
authors.forename: Hongbing
authors.initials: H
authors.lastname: Shen
authors.forename: Dongxin
authors.initials: D
authors.lastname: Lin
mesh_terms: D015703:Antigens, CD / Q000235:genetics* / Q000276:immunology*; D060908:CTLA-4 Antigen; D020022:Genetic Predisposition to Disease; D006801:Humans; D009369:Neoplasms / Q000235:genetics* / Q000276:immunology*; D020641:Polymorphism, Single Nucleotide
chemical_list: D015703:Antigens, CD; D060908:CTLA-4 Antigen; C556706:CTLA4 protein, human