Linkage disequilibrium pattern in the L‐myc gene in Italian and Japanese non‐small‐cell lung‐cancer patients

• Published in: International journal of cancer 2001-09, Vol.95 (5), p.329-331
• Main Authors: Spinola, Monica, Nomoto, Tomoko, Manenti, Giacomo, Falvella, F. Stefania, Brega Massone, Pier Paolo, Conti, Barbara, Cataldo, Ignazio, Valagussa, Pinuccia, Incarbone, Matteo, Miyamoto, Kazuaki, Ushijima, Toshikazu, Dragani, Tommaso A.
• Format: Article
• Language: English
• Subjects: Adenocarcinoma - genetics; Adenocarcinoma - pathology; allele frequency; Alleles; Biological and medical sciences; cancer susceptibility; Carcinoma, Non-Small-Cell Lung - genetics; Carcinoma, Non-Small-Cell Lung - pathology; disease association; Female; Genes, myc - genetics; Genetic Markers - genetics; genetic polymorphisms; Humans; Italy; Japan; L-myc gene; Linkage Disequilibrium; Lung Neoplasms - genetics; Lung Neoplasms - pathology; Male; Medical sciences; Middle Aged; Neoplasm Staging; Pilot Projects; Pneumology; Polymorphism, Single Nucleotide; Prognosis; Sequence Analysis, DNA; SNPs; Tumors of the respiratory system and mediastinum
• ISSN: 0020-7136; 1097-0215
• DOI: 10.1002/1097-0215(20010920)95:5<329::AID-IJC1057>3.0.CO;2-8

Italian and Japanese non‐small‐cell lung‐cancer patients were genotyped for an intragenic L‐myc EcoRI restriction site polymorphism previously reported to be associated with lung‐tumor prognosis in Asian populations but not in Caucasians. Screening of the L‐myc sequence in Italian samples allowed identification of 2 additional 3′‐UTR SNPs, located 2.3–3.0 kb from the EcoRI polymorphism, but no coding polymorphism was found. No significant association was found between any of the 3 SNPs and lung‐tumor prognosis in Italian patients, consistent with the reported difference between Caucasian and Asian populations. Moreover, the newly discovered polymorphisms in the Italian group were not present in Japanese patients. Significant LD between EcoRI and the 2 other SNPs was detected in the Italian population, whereas no significant LD between the 2 3′‐UTR markers was detected despite their close proximity (0.7 kb). Thus, the disparate conclusions about the role of L‐myc polymorphism in tumor prognosis among different populations may rest in population‐specific LD between the functional gene and the L‐myc polymorphism. © 2001 Wiley‐Liss, Inc.