Abstract
ASSICIATED WITH NONSYNDROMIC CLEFT LIP AND/OR PALATE IN KOREAN POPULATION HYUN SOO PARK, KUN WOO KIM, CHA-HUI LEE, SOONSUP SHIM, JOONG SHIN PARK, JONG KWAN JUN, Seoul National Unversity College of Medicine, Department of Obstetrics ang Gynecology, Seoul, South Korea OBJECTIVE: Cleft lip and/or palate is one of the most common congenital defects. Recently polymorphism in IRF-6 820(GOA) has been found to be a major contributor to cleft lip and/or palate in multiple human populations. The aim of the present study was to investigate the association between IRF-6 gene polymorphism and nonsyndromic cleft lip and/or palate in Korean population. STUDY DESIGN: Hospital based case-control study was conducted. Cases were matched with neonates (1:3) without any anomaly (controls). Using archived biologic sample bank, DNA was extracted from buffy coat with QIAamp DNA Blood Mini Kit (Quiagen, Valencia, CA, USA). Standard polymerase chain reaction restriction fragment length polymorphism method was used with established primers. Neonatal records were reviewed to collect clinical characteristics of the case group. Genotyped data were tested for Hardy-Weinberg equilibrium (HWE). Odds ratio and 95% confidence interval (CI) were calculated and Chi-square test was performed to evaluate the relationship between genotype and nonsyndromic cleft lip and/or palate. A p value ! .05 was considered statistically significant. RESULTS: Thirty-nine cases of newborns with nonsyndromic cleft lip and/ or palate were identified between 2000 and 2006. Case group consisted of 6/33 uni/bilateral clefts and 17/22 cleft lip only/cleft lip with palate. All the cases (n=39) and controls (n=108) were successfully genotyped and met HWE. The GG genotype frequency was 43.6 % in cases and 33.3 % in controls. The comparison between GG genotype and GA/AA genotype did not show a significant association (OR 1.545, 95% CI 0.731-3.268). Comparison of allele frequency G with A also showed no significant association (OR 1.228, 95% CI 0.718-2.099) between case and control groups. CONCLUSION: IRF-6 820(GOA) does not seem to be associated with nonsyndromic cleft lip and/or palate in Korean population. More cases are needed to confirm these results.
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