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Molecular Cancer
Published in: Molecular Cancer 1/2011

Open Access 01-12-2011 | Research

A 5'-region polymorphism modulates promoter activity of the tumor suppressor gene MFSD2A

Authors: Francesca Colombo, Felicia S Falvella, Antonella Galvan, Elisa Frullanti, Hideo Kunitoh, Toshikazu Ushijima, Tommaso A Dragani

Published in: Molecular Cancer | Issue 1/2011

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Abstract

Background

The MFSD2A gene maps within a linkage disequilibrium block containing the MYCL1-EcoRI polymorphism associated with prognosis and survival in lung cancer patients. Survival discrepancies between Asians and Caucasians point to ethnic differences in allelic frequencies of the functional genetic variations.

Results

Analysis of three single-nucleotide polymorphisms (SNPs) mapping in the MFSD2A 5'-regulatory region using a luciferase reporter system showed that SNP rs12072037, in linkage disequilibrium with the MYCL1-EcoRI polymorphism and polymorphic in Asians but not in Caucasians, modulated transcriptional activity of the MFSD2A promoter in cell lines expressing AHR and ARNT transcription factors, which potentially bind to the SNP site.

Conclusion

SNP rs12072037 modulates MFSD2A promoter activity and thus might affect MFSD2A levels in normal lung and in lung tumors, representing a candidate ethnically specific genetic factor underlying the association between the MYCL1 locus and lung cancer patients' survival.
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Metadata
Title
A 5'-region polymorphism modulates promoter activity of the tumor suppressor gene MFSD2A
Authors
Francesca Colombo
Felicia S Falvella
Antonella Galvan
Elisa Frullanti
Hideo Kunitoh
Toshikazu Ushijima
Tommaso A Dragani
Publication date
01-12-2011
Publisher
BioMed Central
Published in
Molecular Cancer / Issue 1/2011
Electronic ISSN: 1476-4598
DOI
https://doi.org/10.1186/1476-4598-10-81

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