title: The 61 A/G EGF polymorphism is functional but is neither a prognostic marker nor a risk factor for glioblastoma.
abstract: The A/G61 polymorphism located in the 5'UTR of the EGF gene has been found to be both a risk factor and a prognostic factor in glioblastoma (GBM), but the functional consequences have not been investigated. Here we show, in vitro, that this polymorphism is functional, in that the G allele promoter is 40% more active than the A variant (P < 0.001). However, analysis of a large series of 209 GBM patients and 214 control subjects did not confirm that A/G61 polymorphism is a significant risk factor for GBM, despite a trend for higher GG frequency in these patients. Furthermore, A/G61 polymorphism was not a prognostic factor for survival in GBM patients, although it does appear to affect progression-free survival.
authors.affiliation: INSERM, U711, Biologie des Interactions Neurones & Glie, 75651 Paris cedex 13, France.
authors.forename: Elodie
authors.initials: E
authors.lastname: Vauleon
authors.forename: Nathalie
authors.initials: N
authors.lastname: Auger
authors.forename: Alexandra
authors.initials: A
authors.lastname: Benouaich-Amiel
authors.forename: Florence
authors.initials: F
authors.lastname: Laigle-Donadey
authors.forename: Gentian
authors.initials: G
authors.lastname: Kaloshi
authors.forename: Julie
authors.initials: J
authors.lastname: Lejeune
authors.forename: Jean-Yves
authors.initials: JY
authors.lastname: Delattre
authors.forename: Joëlle
authors.initials: J
authors.lastname: Thillet
authors.forename: Marc
authors.initials: M
authors.lastname: Sanson
mesh_terms: D020121:5' Untranslated Regions / Q000235:genetics; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000818:Animals; D001932:Brain Neoplasms / Q000235:genetics*; D016466:CHO Cells; D016022:Case-Control Studies; D006224:Cricetinae; D004273:DNA, Neoplasm / Q000235:genetics; D004815:Epidermal Growth Factor / Q000235:genetics* / Q000378:metabolism; D020022:Genetic Predisposition to Disease; D005838:Genotype; D005909:Glioblastoma / Q000235:genetics*; D006801:Humans; D008875:Middle Aged; D011110:Polymorphism, Genetic / Q000235:genetics*; D011379:Prognosis; D012307:Risk Factors; D015996:Survival Rate; D014162:Transfection
chemical_list: D020121:5' Untranslated Regions; D004273:DNA, Neoplasm; D004815:Epidermal Growth Factor