title: Investigation of FGF1 and FGFR gene polymorphisms in a group of Iranian patients with nonsyndromic cleft lip with or without cleft palate.
abstract: OBJECTIVE
  Nonsyndromic cleft lip with or without cleft palate (NS-CL/P) is one of the most common craniofacial malformations determined by the interaction between multiple genes and environmental risk factors. Genes coding for fibroblast growth factors and their receptors (FGF/FGFR genes) are considered as excellent candidate genes, which their proteins play important roles in craniofacial and palatal development. The aim of the current study was to assess the possible association between FGF1 rs34010 C>A and FGFR1 rs13317 A>G gene polymorphisms and susceptibility to NS-CL/P in an Iranian population.
  
  
  METHODS
  This case-control retrospective study was performed on a total of 200 subjects including 100 NS-CL/P patients and 100 healthy unrelated controls. Tetra amplification refractory mutation system-polymerase chain reaction (T-ARMS-PCR) was used to detect FGF1 rs34010 C>A and FGFR1 rs13317 A>G SNPs.
  
  
  RESULTS
  Our data demonstrated that the FGF1 rs34010, CA and CA+AA genotypes were associated with a reduced risk of NS-CL/P the in codominant (CA vs. CC: OR=0.29, 95%CI=0.16-0.55, P=0.001) and dominant (CA+AA vs. CC: OR=0.36, 95%CI=0.19-0.69, P=0.001) tested inheritance models, respectively. Additionally, the analysis of FGF1/FGFR1 genotype combinations revealed that rs34010CA/rs13317AA and rs34010CA/rs13317AG combinations were associated with a lower risk of NS-CL/P (OR=0.357, P=0.008 for the rs34010CA/rs13317AA; OR=0.226, P=0.004 for the rs34010CA/rs13317AG).
  
  
  CONCLUSIONS
  Our findings suggest that the FGF1 rs34010 C/A polymorphism was associated with a decreased risk of NS-CL/P, and might act as a protective factor against NS-CL/P predisposition.
authors.affiliation: Department of Biology, Faculty of Science, Mashhad Branch, Islamic Azad University, Mashhad, Iran.
authors.forename: Zahra
authors.initials: Z
authors.lastname: Rafiqdoost
authors.affiliation: School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.
authors.forename: Amir
authors.initials: A
authors.lastname: Rafiqdoost
authors.affiliation: Department of Anatomy, School of Medicine, Zahedan University of Medical Sciences, Zahedan, Iran.
authors.forename: Houshang
authors.initials: H
authors.lastname: Rafiqdoost
authors.affiliation: Department of Clinical Biochemistry, School of Medicine, Zahedan University of Medical Sciences, Zahedan, Iran.
authors.forename: Mohammad
authors.initials: M
authors.lastname: Hashemi
authors.affiliation: Department of Biology, Faculty of Science, Mashhad Branch, Islamic Azad University, Mashhad, Iran.
authors.forename: Jina
authors.initials: J
authors.lastname: Khayatzadeh
authors.affiliation: Department of Clinical Biochemistry, School of Medicine, Zahedan University of Medical Sciences, Zahedan, Iran. Electronic address: eenasab@yahoo.com.
authors.forename: Ebrahim
authors.initials: E
authors.lastname: Eskandari-Nasab
mesh_terms: D000293:Adolescent; D000328:Adult; D017677:Age Distribution; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D002971:Cleft Lip / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics*; D002972:Cleft Palate / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics*; D005260:Female; D016220:Fibroblast Growth Factor 1 / Q000235:genetics*; D018507:Gene Expression Regulation, Developmental; D020022:Genetic Predisposition to Disease / Q000453:epidemiology*; D005838:Genotype; D006801:Humans; D007223:Infant; D007492:Iran / Q000453:epidemiology; D008297:Male; D008875:Middle Aged; D016017:Odds Ratio; D020641:Polymorphism, Single Nucleotide; D015995:Prevalence; D051496:Receptor, Fibroblast Growth Factor, Type 1 / Q000235:genetics*; D012016:Reference Values; D012189:Retrospective Studies; D018570:Risk Assessment; D012720:Severity of Illness Index; D017678:Sex Distribution; D055815:Young Adult
chemical_list: D016220:Fibroblast Growth Factor 1; C496348:FGFR1 protein, human; D051496:Receptor, Fibroblast Growth Factor, Type 1
keywords: Cleft lip and/or cleft palate; FGF1; FGFR1; Single nucleotide polymorphism