title: The GNAS1 T393C polymorphism and lack of clinical prognostic value in chronic lymphocytic leukemia.
abstract: Chronic lymphocytic leukemia (CLL) is a clinically heterogeneous disease with no known single predisposing genetic factor shown in all cases. Recently, a single nucleotide polymorphism (SNP) T393C in the GNAS1 gene has been reported to have a clinical impact on CLL progression and overall survival. In order to further investigate the T393C SNP in CLL, we have genotyped 279 CLL cases and correlated the genotypes to clinical outcome and other known prognostic factors such as the immunoglobulin heavy chain variable (IGHV) gene mutation status and CD38 expression. In the present study, no difference in overall survival or time to treatment was observed in the CLL patients with the different genotypes in contrast to the previous report. Furthermore, no correlation was observed with the T393C genotypes and IGHV mutational status, Binet stage or CD38 in this cohort. In summary, our data does not support the use of the T393C GNAS SNP as a clinical prognostic factor in CLL.
authors.affiliation: Department of Genetics and Pathology, Uppsala University, Uppsala, Sweden.
authors.forename: Mohd Arifin
authors.initials: MA
authors.lastname: Kaderi
authors.forename: Fiona
authors.initials: F
authors.lastname: Murray
authors.forename: Mattias
authors.initials: M
authors.lastname: Jansson
authors.forename: Mats
authors.initials: M
authors.lastname: Merup
authors.forename: Karin
authors.initials: K
authors.lastname: Karlsson
authors.forename: Göran
authors.initials: G
authors.lastname: Roos
authors.forename: Anna
authors.initials: A
authors.lastname: Aleskog
authors.forename: Gerard
authors.initials: G
authors.lastname: Tobin
mesh_terms: D051997:ADP-ribosyl Cyclase 1 / Q000378:metabolism; D000368:Aged; D002864:Chromogranins; D015331:Cohort Studies; D017931:DNA Primers; D018450:Disease Progression; D019205:GTP-Binding Protein alpha Subunits, Gs / Q000235:genetics*; D015973:Gene Expression Regulation, Leukemic; D005838:Genotype; D006801:Humans; D007143:Immunoglobulin Heavy Chains / Q000235:genetics; D007135:Immunoglobulin Variable Region / Q000235:genetics; D015451:Leukemia, Lymphocytic, Chronic, B-Cell / Q000235:genetics*; D009154:Mutation / Q000235:genetics; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D011379:Prognosis; D012333:RNA, Messenger / Q000235:genetics / Q000378:metabolism; D020133:Reverse Transcriptase Polymerase Chain Reaction
chemical_list: D002864:Chromogranins; D017931:DNA Primers; D007143:Immunoglobulin Heavy Chains; D007135:Immunoglobulin Variable Region; D012333:RNA, Messenger; D051997:ADP-ribosyl Cyclase 1; C406732:GNAS protein, human; D019205:GTP-Binding Protein alpha Subunits, Gs