title: TGFß3 / SfaN1 gene variant and the risk factor of nonsyndromic cleft palate only among Indonesian patients.
abstract: Non-syndromic cleft palate only (NS CPO) is one of the most common congenital malformations that affect between 1 in 1000 - 2500 live births worldwide. The etiopathogenesis of clefts including NS CPO has been widely studied but is still poorly understood. NS CPO is considered to be a genetically complex, multifactorial disease. Based on several studies, mutations of TGFβ3 gene emerged as the strong candidate gene associated with NS CPO. The purpose of this study was to analyze the relationship between the TGFβ3 / SfaN1 gene variant and the risk of NS CPO in Indonesian patients. This study was case control design using samples from 31 NS CPO subjects and 35 control subjects. DNA was extracted from venous blood and the segment of TGFβ3 gene/ SfaN1 were amplified by using polymerase chain reaction (PCR) technique, then digestion products by SfaN1 restriction enzyme which can detect locus of gene variant / polymorphism from restriction fragment length polymorphisms (RFLP) method were evaluated. The results indicated that the gene variant as substitution of base G into A was identified in TGFβ3 gene and the frequency of heterozygous mutant GA genotype was 63,6% in NS CPO subjects and 36,4% in control subjects. The frequency of heterozygous mutant GA genotype was associated with increased risk of NS CPO (odds ratio (OR) = 2,260, 95% CI = 0,592 - 8,625). In conclusion, TGFβ3 gene / SfaN1 polymorphism can be considered as the risk factor associated with NS CPO in Indonesian patients.
authors.affiliation: Oral and Maxillofacial Surgery Department, Dentistry Study Program Faculty of Medicine, Universitas Jenderal Achmad Yani Cimahi - Bandung Indonesia.
authors.forename: S L
authors.initials: SL
authors.lastname: Nasroen
authors.affiliation: Oral and Maxillofacial Surgery Department, Faculty of Dentistry, Universitas Hasanuddin Makassar Indonesia.
authors.forename: A
authors.initials: A
authors.lastname: Tajrin
authors.affiliation: Department of Medical Laboratory Technology, School of Health Sciences Jenderal Achmad Yani Cimahi, Indonesia.
authors.forename: P N
authors.initials: PN
authors.lastname: Fauziah
authors.affiliation: Oral Biology Department, Faculty of Dentistry, Universitas Padjadjaran / Health Study Unit of Hasan Sadikin Hospital Bandung Indonesia.
authors.forename: A M
authors.initials: AM
authors.lastname: Maskoen
authors.affiliation: Orthodontic Department, Faculty of Dentistry, Universitas Padjadjaran, Bandung, Indonesia.
authors.forename: E S S
authors.initials: ES
authors.lastname: Soemantri
authors.affiliation: Department of Surgery, Division of Plastic Surgery Reconstruction and Esthetic, Faculty of Medicine, Universitas Padjadjaran Bandung, Indonesia.
authors.forename: H
authors.initials: H
authors.lastname: Soedjana
authors.affiliation: Department of Pediatric, Faculty of Medicine Universitas Padjadjaran Bandung, Indonesia.
authors.forename: D
authors.initials: D
authors.lastname: Hilmanto
mesh_terms: D000483:Alleles; D001483:Base Sequence; D001665:Binding Sites / Q000235:genetics; D002972:Cleft Palate / Q000235:genetics* / Q000473:pathology; D015252:Deoxyribonucleases, Type II Site-Specific / Q000378:metabolism; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005838:Genotype; D006801:Humans; D007214:Indonesia; D016017:Odds Ratio; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D020641:Polymorphism, Single Nucleotide; D012307:Risk Factors; D053782:Transforming Growth Factor beta3 / Q000235:genetics* / Q000378:metabolism
chemical_list: C509044:TGFB3 protein, human; D053782:Transforming Growth Factor beta3; D015252:Deoxyribonucleases, Type II Site-Specific; C065993:endodeoxyribonuclease SfaNI
keywords: Gene variant.; Non syndromic cleft palate only; PCR-RFLP; SfaN1; TGFβ3 gene