title: Non-syndromic cleft lip with or without cleft palate in Asian populations: Association analysis on three gene polymorphisms of the folate pathway.
abstract: OBJECTIVE
  Orofacial clefts (OFCs) are one of the most common birth defects in humans. They are the subject of a number of investigations aimed at elucidating the bases of their complex mode of inheritance involving both genetic and environmental factors. Genes belonging to the folate pathway have been among the most studied. The aim of the investigation was to replicate previous studies reporting evidence of association between polymorphisms of folate related genes and the occurrence of non-syndromic cleft lip with or without cleft palate (NSCL/P), using three independent samples of different ancestry: from Tibet, Bangladesh and Iran, respectively.
  
  
  METHODS
  Specifically, the polymorphisms rs1801133 of MTHFR, rs1801198 of TCN2, and rs4920037 of CBS, were tested.
  
  
  RESULTS
  A decreased risk of NSCL/P was observed in patients presenting the C677T variant at MTHFR gene (relative risk for heterozygotes=0.53; 95% confidence interval [C.I.]=0.32-0.87). The investigated polymorphisms mapping at TCN2 and CBS genes did not provide any evidence of association.
  
  
  CONCLUSIONS
  Overall, these results indicate that NSCL/P risk factors differ among populations and confirm the importance of testing putative susceptibility variants in different genetic backgrounds.
authors.affiliation: Department of Experimental, Diagnostic and Specialty Medicine, University of Bologna, Via Belmeloro, 8, 40126 Bologna, Italy. Electronic address: marcella.martinelli@unibo.it.
authors.forename: Marcella
authors.initials: M
authors.lastname: Martinelli
authors.affiliation: Department of Experimental, Diagnostic and Specialty Medicine, University of Bologna, Via Belmeloro, 8, 40126 Bologna, Italy.
authors.forename: Ambra
authors.initials: A
authors.lastname: Girardi
authors.affiliation: Department of Experimental, Diagnostic and Specialty Medicine, University of Bologna, Via Belmeloro, 8, 40126 Bologna, Italy.
authors.forename: Francesca
authors.initials: F
authors.lastname: Cura
authors.affiliation: Medical Genetics Laboratory, Alzahra University Hospital, Isfahan University of Medical Sciences, 81745-319 Isfahan, Iran.
authors.forename: Nayereh
authors.initials: N
authors.lastname: Nouri
authors.affiliation: Plastic Surgery Unit, Sant'Orsola Malpighi University Hospital, Via Massarenti, 9, 40138 Bologna, Italy.
authors.forename: Valentina
authors.initials: V
authors.lastname: Pinto
authors.affiliation: Department of Morphology, Surgery and Experimental Medicine, University of Ferrara, Via Luigi Borsari, 46, 44121 Ferrara, Italy.
authors.forename: Francesco
authors.initials: F
authors.lastname: Carinci
authors.affiliation: Department of Experimental, Diagnostic and Specialty Medicine, University of Bologna, Via Belmeloro, 8, 40126 Bologna, Italy.
authors.forename: Paolo Giovanni
authors.initials: PG
authors.lastname: Morselli
authors.affiliation: Department of Genetics and Molecular Biology, Medical School, Isfahan University of Medical Sciences, 81745-319 Isfahan, Iran.
authors.forename: Mansoor
authors.initials: M
authors.lastname: Salehi
authors.affiliation: Department of Experimental, Diagnostic and Specialty Medicine, University of Bologna, Via Belmeloro, 8, 40126 Bologna, Italy.
authors.forename: Luca
authors.initials: L
authors.lastname: Scapoli
mesh_terms: D044466:Asian People; D001459:Bangladesh; D002648:Child; D002971:Cleft Lip / Q000208:ethnology / Q000235:genetics*; D002972:Cleft Palate / Q000208:ethnology / Q000235:genetics*; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D007492:Iran; D051150:Methionine Sulfoxide Reductases / Q000235:genetics*; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics*; D008840:Microfilament Proteins; D020641:Polymorphism, Single Nucleotide; D018609:Tibet; D014155:Transcobalamins / Q000235:genetics*; D014157:Transcription Factors / Q000235:genetics*
chemical_list: D008840:Microfilament Proteins; D014155:Transcobalamins; D014157:Transcription Factors; C573423:MTHFR protein, human; D042965:Methylenetetrahydrofolate Reductase (NADPH2); C120376:MSRB2 protein, human; D051150:Methionine Sulfoxide Reductases
keywords: Association; CBS; Cleft lip with or without cleft palate; MTHFR; Polymorphism; TCN2