PMID: 14659070Dec 9, 2003

Transforming growth factor-beta3 gene SfaN1 polymorphism in Korean nonsyndromic cleft lip and palate patients

Journal of Biochemistry and Molecular Biology
Myung-Hee KimDong-Seok Nahm

Abstract

The nonsyndromic cleft lip and palate (NSCL/P) is a congenital deformity of multifactorial origin with a relatively high incidence in the oriental population. Various etiologic candidate genes have been reported with conflicting results, according to race and analysis methods. Recently, the ablation of the TGF-beta3 gene function induced cleft palates in experimental animals. Also, polymorphisms in the TGF-beta3 gene have been studied in different races; however, they have not been studied in Koreans. A novel A --> G single nucleotide polymorphism (defined by the endonuclease SfaN1) was identified in intron 5 of TGF-beta3 (IVS5+104 A > G). It resulted in different genotypes, AA, AG, and GG. The objective of this study was to investigate the relationship between the SfaN1 polymorphism in TGF-beta3 and the risk of NSCL/P in the Korean population. The population of this study consisted of 28 NSCL/P patients and 41 healthy controls. The distribution of the SfaN1 genotypes was different between the cases and controls. The frequency of the G allele was significantly associated with the increased risk of NSCL/P [odds ratio (OR) = 15.92, 95% confidence interval (CI) = 6.3-41.0]. The risk for the disease increased as the G allele number...Continue Reading

References

Dec 1, 1995·Nature Genetics·G ProetzelT Doetschman
Sep 30, 1994·Science·E S Lander, N J Schork
Jan 1, 1997·The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association·Andrew C LidralW Magee
Jan 5, 2002·The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association·Laura E MitchellInternational Consortium for Oral Clefts Genetics
May 29, 2002·Clinical Genetics·J C Murray

Citations

May 16, 2008·Journal of Human Genetics·Heiko ReutterElisabeth Mangold
Sep 24, 2013·Genetic Testing and Molecular Biomarkers·Mingrui TangDi Wang
Dec 24, 2010·Human Molecular Genetics·Isabella VenzaMario Venza
Mar 23, 2012·Journal of Oral and Maxillofacial Pathology : JOMFP·Sarvraj Singh Kohli, Virinder Singh Kohli
Jul 8, 2015·The Cleft Palate-craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association·Norliana GhazaliSaidi Jaafar
Sep 2, 2014·International Journal of Pediatric Otorhinolaryngology·C François-FiquetM Doco-Fenzy

Related Concepts

Endodeoxyribonuclease SfaNI
Genetic Polymorphism
Type II site-specific deoxyribonuclease
Nested Case-Control Studies
Transforming Growth Factor beta
Oligonucleotide Primers
Transforming Growth Factor beta 3 Latency Associated Peptide

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