title: A new polymorphism (Ser362Thr) of the L-myc gene is not associated with lung adenocarcinoma risk and prognosis.
abstract: The non-coding variation in the second intron of the L-myc gene, generating an EcoRI polymorphism, is associated with lung cancer risk and prognosis. We carried out sequence analysis of the L-myc gene in lung adenocarcinoma (ADCA) patients to identify functional polymorphisms and identified a new single nucleotide polymorphism (SNP) in the third exon of the gene causing a Ser362Thr conservative amino acid change in the C-terminus of the encoded protein. This polymorphism showed significant linkage disequilibrium with the L-myc EcoRI polymorphism located at 1751 bp distance. Genotyping of the Ser362Thr SNP in 220 Italian ADCA patients and in 230 general population controls revealed a similar low frequency (0.10-0.11) of the Thr allele in both groups. The multivariate odds ratio was 0.68 (95% confidence interval (CI) 0.38-1.22). In the ADCA patients, no significant association between the Ser/Thr polymorphism and survival was observed. Thus, the present results do not support candidacy of the L-myc Ser362Thr polymorphism for the functional polymorphism of the L-myc genomic region.
authors.affiliation: Department of Experimental Oncology; Thoracic Surgery; Pathology, Istituto Nazionale Tumori, Milan, Italy. spinola@istitutotumori.mi.it
authors.forename: M
authors.initials: M
authors.lastname: Spinola
authors.forename: B
authors.initials: B
authors.lastname: Conti
authors.forename: F
authors.initials: F
authors.lastname: Ravagnani
authors.forename: A
authors.initials: A
authors.lastname: Fabbri
authors.forename: M
authors.initials: M
authors.lastname: Incarbone
authors.forename: I
authors.initials: I
authors.lastname: Cataldo
authors.forename: E
authors.initials: E
authors.lastname: Pira
authors.forename: C
authors.initials: C
authors.lastname: Pelucchi
authors.forename: C
authors.initials: C
authors.lastname: La Vecchia
authors.forename: T A
authors.initials: TA
authors.lastname: Dragani
mesh_terms: D000230:Adenocarcinoma / Q000235:genetics*; D002289:Carcinoma, Non-Small-Cell Lung / Q000235:genetics*; D016022:Case-Control Studies; D005260:Female; D016259:Genes, myc / Q000235:genetics*; D005838:Genotype; D006801:Humans; D008175:Lung Neoplasms / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D011110:Polymorphism, Genetic / Q000235:genetics*; D011379:Prognosis; D012307:Risk Factors