title: 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.
  
  
  CONCLUSIONS
  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.
authors: Department of Predictive and Preventive Medicine, Fondazione IRCCS Istituto Nazionale Tumori, Milan, Italy.
authors: Francesca
authors: F
authors: Colombo
authors: Felicia S
authors: FS
authors: Falvella
authors: Antonella
authors: A
authors: Galvan
authors: Elisa
authors: E
authors: Frullanti
authors: Hideo
authors: H
authors: Kunitoh
authors: Toshikazu
authors: T
authors: Ushijima
authors: Tommaso A
authors: TA
authors: Dragani
mesh_terms: D020121:5' Untranslated Regions / Q000235:genetics* / Q000502:physiology; D002289:Carcinoma, Non-Small-Cell Lung / Q000235:genetics / Q000473:pathology; D045744:Cell Line, Tumor; D015972:Gene Expression Regulation, Neoplastic / Q000502:physiology; D016147:Genes, Tumor Suppressor; D020022:Genetic Predisposition to Disease; D057809:HEK293 Cells; D019073:HT29 Cells; D056945:Hep G2 Cells; D006801:Humans; D015810:Linkage Disequilibrium; D008175:Lung Neoplasms / Q000235:genetics / Q000473:pathology; D020641:Polymorphism, Single Nucleotide / Q000502:physiology; D011401:Promoter Regions, Genetic / Q000235:genetics* / Q000502:physiology; D027981:Symporters; D025521:Tumor Suppressor Proteins / Q000235:genetics* / Q000378:metabolism / Q000502:physiology
chemical_list: D020121:5' Untranslated Regions; C549328:MFSD2A protein, human; D027981:Symporters; D025521:Tumor Suppressor Proteins