title: The polymorphisms -318C>T in the promoter and 49A>G in exon 1 of CTLA4 and the risk of aplastic anemia in a Caucasian population.
abstract: Aplastic anemia (AA) is a rare disease with a major autoimmune pathogenetic component. CTLA4 is a T-lymphocyte surface molecule involved in the maintenance of immune tolerance. Some polymorphisms associated with a reduced expression of CTLA4, and thus presumably with increased tendency to autoimmunity, have been associated with various autoimmune diseases. In this study, we evaluated the distribution of the low expression polymorphisms -318C > T and 49A > G of CTLA4 in a population of 67 patients with acquired AA and in 100 normal controls. There was no difference in the distribution of the tested polymorphism between patients and controls and, within the patient group, between those who responded to immunosuppression vs those who did not respond. This study indicates that the polymorphisms -318C > T and 49A > G of CTLA4 do not affect the risk of developing AA and do not influence the response to immunosuppression.
authors.affiliation: Hematology Unit, Department of Pediatric Hemato-Oncology, G Gaslini Children's Hospital, Genova, Italy.
authors.forename: J
authors.initials: J
authors.lastname: Svahn
authors.forename: M
authors.initials: M
authors.lastname: Capasso
authors.forename: M
authors.initials: M
authors.lastname: Lanciotti
authors.forename: A
authors.initials: A
authors.lastname: Marrone
authors.forename: R
authors.initials: R
authors.lastname: Haupt
authors.forename: A
authors.initials: A
authors.lastname: Bacigalupo
authors.forename: C
authors.initials: C
authors.lastname: Pongiglione
authors.forename: L
authors.initials: L
authors.lastname: Boschetto
authors.forename: D
authors.initials: D
authors.lastname: Longoni
authors.forename: M
authors.initials: M
authors.lastname: Pillon
authors.forename: A
authors.initials: A
authors.lastname: Pistorio
authors.forename: P
authors.initials: P
authors.lastname: Di Michele
authors.forename: A P
authors.initials: AP
authors.lastname: Iori
authors.forename: M
authors.initials: M
authors.lastname: Calvillo
authors.forename: A
authors.initials: A
authors.lastname: Locasciulli
authors.forename: G
authors.initials: G
authors.lastname: Menna
authors.forename: R
authors.initials: R
authors.lastname: Riccardi
authors.forename: U
authors.initials: U
authors.lastname: Ramenghi
authors.forename: C
authors.initials: C
authors.lastname: Dufour
authors.forename: A
authors.initials: A
authors.lastname: Iolascon
mesh_terms: D000293:Adolescent; D000328:Adult; D000741:Anemia, Aplastic / Q000235:genetics*; D015703:Antigens, CD; D000943:Antigens, Differentiation / Q000235:genetics*; D060908:CTLA-4 Antigen; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D005091:Exons / Q000235:genetics*; D005260:Female; D005786:Gene Expression Regulation; D020022:Genetic Predisposition to Disease; D006801:Humans; D007223:Infant; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D011401:Promoter Regions, Genetic; D012307:Risk Factors; D044465:White People
chemical_list: D015703:Antigens, CD; D000943:Antigens, Differentiation; D060908:CTLA-4 Antigen; C556706:CTLA4 protein, human