| Budget Amount *help |
¥3,510,000 (Direct Cost: ¥2,700,000、Indirect Cost: ¥810,000)
Fiscal Year 2015: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
Fiscal Year 2014: ¥1,950,000 (Direct Cost: ¥1,500,000、Indirect Cost: ¥450,000)
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| Outline of Final Research Achievements |
Genome wide association studies of non-syndromic cleft lip and/or cleft palate have been identified multiple genetic loci including MAFB, VAX1, PAX7, FOXE1 and ABCA4. We used independent 404 case-parents trios from Vietnam which were cleft lip only (CLO;104 trios), cleft lip and palate (CLP;135 trios) and cleft palate only (CPO;165 trios) were genotyped by either TaqMan assays or Fluidigm. Transmission disequilibrium test was performed by Family based Association Test and PLINK. Statistically significant associations were observed in genes incluging IRF6, FOXE1 and MAFB. Regarding CL/P, There were associations with IRF6 (rs2235371, p= 6.80E-06 and rs2013162 p= 0.03486) and MAFB (rs17820943, p= 0.002266, rs13041247 and rs11696257, p= 0.001862). Also FOXE1 (rs894673 and rs3758249, p= 0.02) was slightly associated with CL/P. However, after Bonferroni correction, only IRF6 showed significant association. In Japanese, only VAX1 showed statistical significance (rs7078160, p=0.00511)
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