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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, TGFB3, 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.
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Paranaíba, Lívia M. R. ; Aquino, Sibele Nascimento de ; Bufalino, Andreia ; Martelli Júnior, Hercílio ; Graner, Edgard ; Brito, Luciano Abreu ; Passos Bueno e, Maria Rita dos Santos ; Della Coletta, Ricardo ; Swerts, Mário Sérgio Oliveira. Contribution of polymorphisms in genes associated with craniofacial development to the risk of nonsyndromic cleft lip and/or palate in the Brazilian population. En: Medicina oral, patología oral y cirugía bucal. Ed inglesa, 2013, Vol. 18, No. 3: 414-420 |