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

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 rs120720

SUBMITTER: Colombo F 

PROVIDER: S-EPMC3155907 | biostudies-literature | 2011 Jul

REPOSITORIES: biostudies-literature