Ethnic differences in frequencies of gene polymorphisms in the MYCL1 region and modulation of lung cancer patients' survival

Monica Spinola, F. Stefania Falvella, Antonella Galvan, Carmen Pignatiello, Vera P. Leoni, Ugo Pastorino, Rita Paroni, Shuqing Chen, Vidar Skaug, Aage Haugen, Tommaso A. Dragani

Research output: Contribution to journalArticle

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Abstract

Linkage disequilibrium (LD) analysis to refine a region associated with lung cancer progression on chromosome 1p34 identified a 106 kb LD block that includes MYCL1, TRIT1 (tRNA isopentenyltransferase 1) and MFSD2 (major facilitator superfamily domain-containing 2). Case-only association study on SNPs mapping in TRIT1 and MFSD2 indicated that the rare Leu allele (frequency: 0.04) of the TRIT1 Phe202Leu variation predicts short survival as compared to the common Phe/Phe genotype (hazard ratio (HR) = 1.7; 95% CI, 1.03-2.86; P = 0.039) in 335 Italian lung adenocarcinoma samples. A replication study in an independent population of 246 Norwegian lung cancer patients confirmed the significant association of the Phe202Leu polymorphism with patients' survival, but the rare allele was associated with better survival rate (HR = 0.5; 95% CI, 0.26-0.91; P = 0.023). The rare allele of TRIT1 Phe202Leu SNP was ∼seven-fold more frequent in Asian than in Caucasian subjects and three additional SNPs in the TRIT1 and MFSD2 genes showed ethnic differences in allelic frequencies. These results suggest that polymorphisms in the MYCL1 LD region affect lung cancer survival but that the functional element(s) may show population-specific patterns.

Original languageEnglish
Pages (from-to)271-277
Number of pages7
JournalLung Cancer
Volume55
Issue number3
DOIs
Publication statusPublished - Mar 2007

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Gene Frequency
Lung Neoplasms
Linkage Disequilibrium
Survival
Single Nucleotide Polymorphism
Alleles
Population
Survival Rate
Chromosomes
Genotype
tRNA isopentenyltransferase
Genes

Keywords

  • Genetic susceptibility
  • Lung cancer
  • MFSD2
  • Single-nucleotide polymorphisms
  • TRIT1
  • Tumour progression

ASJC Scopus subject areas

  • Oncology

Cite this

Ethnic differences in frequencies of gene polymorphisms in the MYCL1 region and modulation of lung cancer patients' survival. / Spinola, Monica; Falvella, F. Stefania; Galvan, Antonella; Pignatiello, Carmen; Leoni, Vera P.; Pastorino, Ugo; Paroni, Rita; Chen, Shuqing; Skaug, Vidar; Haugen, Aage; Dragani, Tommaso A.

In: Lung Cancer, Vol. 55, No. 3, 03.2007, p. 271-277.

Research output: Contribution to journalArticle

Spinola, M, Falvella, FS, Galvan, A, Pignatiello, C, Leoni, VP, Pastorino, U, Paroni, R, Chen, S, Skaug, V, Haugen, A & Dragani, TA 2007, 'Ethnic differences in frequencies of gene polymorphisms in the MYCL1 region and modulation of lung cancer patients' survival', Lung Cancer, vol. 55, no. 3, pp. 271-277. https://doi.org/10.1016/j.lungcan.2006.10.023
Spinola, Monica ; Falvella, F. Stefania ; Galvan, Antonella ; Pignatiello, Carmen ; Leoni, Vera P. ; Pastorino, Ugo ; Paroni, Rita ; Chen, Shuqing ; Skaug, Vidar ; Haugen, Aage ; Dragani, Tommaso A. / Ethnic differences in frequencies of gene polymorphisms in the MYCL1 region and modulation of lung cancer patients' survival. In: Lung Cancer. 2007 ; Vol. 55, No. 3. pp. 271-277.
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