BACKGROUND AND OBJECTIVE: Nonsyndromic cleft lip and/or palate (NSCL/P) is a complex disease associated with both genetic and environmental factors. One strategy for identifying of possible NSCL/P genetic causes is to evaluate polymorphic variants in genes involved in the craniofacial development. DESIGN: We carried out a case-control analysis of 13 single nucleotide polymorphisms in 9 genes related to craniofacial development, including TBX1, PVRL1, MID1, RUNX2, TP63, TGFβ3, MSX1, MYH9 and JAG2, in 367 patients with NSCL/P and 413 unaffected controls from Brazil to determine their association with NSCL/P. RESULTS: Four out of 13 polymorphisms (rs28649236 and rs4819522 of TBX1, rs7940667 of PVRL1 and rs1057744 of JAG2) were presented in our population. Comparisons of allele and genotype frequencies revealed that the G variant allele and the AG/GG genotypes of TBX1 rs28649236 occurred in a frequency significantly higher in controls than in the NSCL/P group (OR: 0.41; 95% CI: 0.25-0.67; p=0.0002). The frequencies of rs4819522, rs7940667 and rs1057744 minor alleles and genotypes were similar between control and NSCL/P group, without significant differences. No significant associations among cleft types and polymorphisms were observed. CONCLUSION: The study suggests for the first time evidences to an association of the G allele of TBX1 rs28649236 polymorphism and NSCL/P.
BACKGROUND AND OBJECTIVE:Nonsyndromic cleft lip and/or palate (NSCL/P) is a complex disease associated with both genetic and environmental factors. One strategy for identifying of possible NSCL/P genetic causes is to evaluate polymorphic variants in genes involved in the craniofacial development. DESIGN: We carried out a case-control analysis of 13 single nucleotide polymorphisms in 9 genes related to craniofacial development, including TBX1, PVRL1, MID1, RUNX2, TP63, TGFβ3, MSX1, MYH9 and JAG2, in 367 patients with NSCL/P and 413 unaffected controls from Brazil to determine their association with NSCL/P. RESULTS: Four out of 13 polymorphisms (rs28649236 and rs4819522 of TBX1, rs7940667 of PVRL1 and rs1057744 of JAG2) were presented in our population. Comparisons of allele and genotype frequencies revealed that the G variant allele and the AG/GG genotypes of TBX1 rs28649236 occurred in a frequency significantly higher in controls than in the NSCL/P group (OR: 0.41; 95% CI: 0.25-0.67; p=0.0002). The frequencies of rs4819522, rs7940667 and rs1057744 minor alleles and genotypes were similar between control and NSCL/P group, without significant differences. No significant associations among cleft types and polymorphisms were observed. CONCLUSION: The study suggests for the first time evidences to an association of the G allele of TBX1 rs28649236 polymorphism and NSCL/P.
Authors: Flavia C Parra; Roberto C Amado; José R Lambertucci; Jorge Rocha; Carlos M Antunes; Sérgio D J Pena Journal: Proc Natl Acad Sci U S A Date: 2002-12-30 Impact factor: 11.205
Authors: Theresa M Zucchero; Margaret E Cooper; Brion S Maher; Sandra Daack-Hirsch; Buena Nepomuceno; Lucilene Ribeiro; Diana Caprau; Kaare Christensen; Yasushi Suzuki; Junichiro Machida; Nagato Natsume; Koh-Ichiro Yoshiura; Alexandre R Vieira; Ieda M Orioli; Eduardo E Castilla; Lina Moreno; Mauricio Arcos-Burgos; Andrew C Lidral; L Leigh Field; You-e Liu; Ajit Ray; Toby H Goldstein; Rebecca E Schultz; Min Shi; Marla K Johnson; Shinji Kondo; Brian C Schutte; Mary L Marazita; Jeffrey C Murray Journal: N Engl J Med Date: 2004-08-19 Impact factor: 91.245
Authors: Daniel W Meechan; Thomas M Maynard; Eric S Tucker; Alejandra Fernandez; Beverly A Karpinski; Lawrence A Rothblat; Anthony-S LaMantia Journal: Prog Neurobiol Date: 2015-04-09 Impact factor: 11.685