title: Idiopathic pulmonary fibrosis and polymorphisms of the folate pathway genes.
abstract: OBJECTIVE
  This study aims to determine the possible association between folate pathway gene polymorphisms and idiopathic pulmonary fibrosis. This represents the first study carried out on folate pathway gene polymorphisms as possible risk factors in this kind of pathology. The premise is that several polymorphisms mapping on genes responsible for folate uptake are associated with the risk of numerous diseases occurring between pregnancy and old age, and that too little is currently known about idiopathic pulmonary fibrosis.
  
  
  METHODS
  We genotyped 9 single nucleotide polymorphisms and 1 polymorphic insertion in 7 essential genes belonging to the folate pathway in 32 Italian idiopathic pulmonary fibrosis patients and 81 control subjects. This was done by PCR and restriction analysis.
  
  
  RESULTS
  Allelic and genotypic association tests indicated that for all the analysed polymorphisms there were no significant differences between patients and controls. Nevertheless, the haplotype association analysis revealed a significant association between idiopathic pulmonary fibrosis and transcobalamin II gene polymorphisms: specifically the haplotype 776G (rs1801198)-c.1026-394G (rs7286680)-444C (rs10418) (OR=2.84; 95% C.I. 1.36-5.93, P value=0.004).
  
  
  CONCLUSIONS
  This small-scale preliminary study would suggest the importance of further research focusing on the role of folate in the onset of idiopathic pulmonary fibrosis.
authors.affiliation: Dipartimento di Istologia, Embriologia e Biologia Applicata, Università di Bologna, Via Belmeloro 8, 40126 Bologna, Italy.
authors.forename: Marcella
authors.initials: M
authors.lastname: Martinelli
authors.forename: Luca
authors.initials: L
authors.lastname: Scapoli
authors.forename: Paolo
authors.initials: P
authors.lastname: Carbonara
authors.forename: Ilaria
authors.initials: I
authors.lastname: Valentini
authors.forename: Ambra
authors.initials: A
authors.lastname: Girardi
authors.forename: Francesca
authors.initials: F
authors.lastname: Farinella
authors.forename: Gabriella
authors.initials: G
authors.lastname: Mattei
authors.forename: Angela Maria Grazia
authors.initials: AM
authors.lastname: Pacilli
authors.forename: Luca
authors.initials: L
authors.lastname: Fasano
authors.forename: Stefano
authors.initials: S
authors.lastname: Nava
authors.forename: Rossella
authors.initials: R
authors.lastname: Solmi
mesh_terms: D013766:5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase / Q000235:genetics; D000368:Aged; D016022:Case-Control Studies; D005260:Female; D005492:Folic Acid / Q000235:genetics* / Q000378:metabolism*; D020022:Genetic Predisposition to Disease; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D054990:Idiopathic Pulmonary Fibrosis / Q000235:genetics*; D008297:Male; D008754:Methylenetetrahydrofolate Dehydrogenase (NADP) / Q000235:genetics; D008875:Middle Aged; D015778:Minor Histocompatibility Antigens; D020641:Polymorphism, Single Nucleotide; D013762:Tetrahydrofolate Dehydrogenase / Q000235:genetics; D014155:Transcobalamins / Q000235:genetics*
chemical_list: D015778:Minor Histocompatibility Antigens; D014155:Transcobalamins; D005492:Folic Acid; D013762:Tetrahydrofolate Dehydrogenase; C539735:MTHFD1 protein, human; D008754:Methylenetetrahydrofolate Dehydrogenase (NADP); D013766:5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase