Korean J Orthod.  2004 Jun;34(3):261-267.

The ethnic difference of the prevalence of SfaN polymorphism in the nonsyndromic cleft palate

• Kim MH
• Nahm DS
• Rotaru H
• Hurubeanu
• Choi JY
• Chae CH
• Kim SG

Abstract

Nonsyndromic cleft lip and/or palate (NSCLP) is one of the most common congenital deformities and its prevalence in Far East Asia, such as within Korean and Japanese populations, is relatively high. However, in the eastern part of Europe, clefts are relatively rare situations. These ethnic differences infer a genetic background of the disease. The objective of this study was to compare the frequency of single nucleotide polymorphism (SNP) in TGF-beta3 between Korean and Romanian cleft families. Korean cleft families samples were collected from twenty-six families (n=78) and Romanian cleft families samples were collected from eighteen families (n=41). For sequencing, the blood or saliva of the subjects was sampled. A single nucleotide plolymorphism was observed in the intron 5 of TGF-beta3 (A18141G). The frequency of each allele was significantly different between the Korean and Romanian samples. The AA allele was present in 18 out of 78 Korean samples (23.1%) and in 27 out of 41 Romanian samples (65.9%). The AG was present in 27 (34.6%) out of 78 Koreans and in 13 (31.7%) out of 41 Romanians. The GG was found in 33 (42.3%) Koreans and in 1 (2.4%) Romanian. The difference between the groups was significant (p<0.001). In conclusion, the frequency of observed SNP was significantly different between the two countries. SNP in TGF-beta3 in the Korean population seemed to have a higher possibility of occurrence for nonsyndromic cleft palate than the Romanian population

Keyword

Nonsyndromic cleft palate; SNP; TGF-beta3; SfaN1

MeSH Terms

Alleles
Asia
Asian Continental Ancestry Group
Cleft Lip
Cleft Palate*
Congenital Abnormalities
Europe
Far East
Humans
Introns
Palate
Polymorphism, Single Nucleotide
Prevalence*
Saliva
Transforming Growth Factor beta3
Transforming Growth Factor beta3