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생화학분자생물학회 (Korean Society for Biochemistry and Molecular Biology)
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Transforming Growth Factor-β3 Gene SfaN1 Polymorphism in Korean Nonsyndromic Cleft Lip and Palate Patients

  • Kim, Myung-Hee (Department of Orthodontics, College of Dentistry, Seoul National University) ;
  • Kim, Hyo-Jin (Department of Biochemistry, School of Medicine, Kyungpook National University) ;
  • Choi, Je-Yong (Department of Biochemistry, School of Medicine, Kyungpook National University) ;
  • Nahm, Dong-Seok (Department of Orthodontics, College of Dentistry, Seoul National University)
  • 투고 : 2003.03.28
  • 심사 : 2003.05.24
  • 발행 : 2003.11.30
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초록

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-${\beta}3$ gene function induced cleft palates in experimental animals. Also, polymorphisms in the TGF-${\beta}3$ gene have been studied in different races; however, they have not been studied in Koreans. A novel A $\rightarrow$ G single nucleotide polymorphism (defined by the endonuclease SfaN1) was identified in intron 5 of TGF-${\beta}3$ (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-${\beta}3$ 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 numbers increased (GA genotype: OR = 2.11, 95% CI = 0.38-11.68; GG genotype: OR = 110.2, 95% CI = 10.67 - 2783.29) in NSCL/P. A stratified study in patients revealed that the SfaN1 site IVS5+104A > G substitution was strongly associated with an increased risk of NSCL/P in males (p < 0.001), but not in females. In conclusion, the polymorphism of the SfaN1 site in TGF-${\beta}3$ was significantly different between the NSCL/P patients and the control. This may be a good screening marker for NSCL/P patients among Koreans.

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참고문헌

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  10. Role of angiogenesis-related genes in cleft lip/palate: Review of the literature vol.78, pp.10, 2014, https://doi.org/10.1016/j.ijporl.2014.08.001
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  13. TGFB3 displays parent-of-origin effects among central Europeans with nonsyndromic cleft lip and palate vol.53, pp.7, 2008, https://doi.org/10.1007/s10038-008-0296-9
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