BMP4Polymorphism is Associated with Nonsyndromic Oral Cleft in a Brazilian Population

Abstract

Objective : To evaluate the association of the polymorphisms in the TGFB3 gene (rs2268626) and the BMP4 gene (rs17563) with nonsyndromic oral clefts. Design : A hospital-based case-control study was conducted with nonsyndromic oral clefts cases and unaffected controls. Cleft type and tooth agenesis data were collected by clinical examination and confirmed through medical records. Risk factors were obtained through a questionnaire. Genotyping of the selected polymorphisms for TGFB3 and BMP4 were carried out by real-time polymerase chain reaction using the Taqman assay method from a genomic DNA isolated from buccal epithelial cells of all individuals. Setting : The case group was ascertained through a public reference hospital of oral cleft rehabilitation in Rio de Janeiro, Brazil. The noncleft group consisted of unrelated subjects, with no history of oral cleft in the family, recruited at the Dental Clinic at the Federal University of Rio de Janeiro, Brazil. Participants : A total of 833 unrelated individuals (450 control individuals and 383 cases with nonsyndromic oral clefts). Results : No significant association in relation to genotype or allele distributions for TGFB3 polymorphism was found between oral cleft subgroups and the control group. For BMP4, there were significant differences in the genotype frequencies between the oral cleft and control groups (P = .0007). Regarding cleft type, there were statistically significant differences between the cleft lip and control groups (P = .00009). Conclusion : Our findings provide preliminary evidence suggesting that the risk of nonsyndromic oral clefts may be influenced by variation in the BMP4 gene.

DLX1 and MMP3 contribute to oral clefts with and without positive family history of cancer

“…We previously observed the association between the polymorphism rs17563 and oral cleft in a casecontrol design. 44 These results suggested that BMP4 might be a good candidate to be extensively explored for contribution to oral clefts.…”

Genetic polymorphism in esr2 and risk of tooth agenesis

“…In the past few years, much progress has been made in the identification of the developmental basis of odontogenesis and the genes involved in TA. [6][7][8][9][10][11][12] In fact, genetic polymorphisms in many genes, including MSX1 (msh homeobox 1), 20 PAX9 (paired box 9), 20 FGF3 (fibroblast growth factor 3), 7 FGF10 (fibroblast growth factor 10), 7 FGFR2 (fibroblast growth factor receptor 2), 7 FGFR1 (fibroblast growth factor receptor 1), 21 BMP2 (bone morphogenetic protein 2), 6 BMP4 (bone morphogenetic protein 4), 10,12 TGF 1 (transforming growth factor beta 1), 11 TGF 3 (transforming growth factor beta 3), 10 IRF6 (interferon regulatory factor 6), 9 MMP1 (matrix metalloproteinase 1), 22 MMP20 (matrix metalloproteinase 20), 22 MMP9 (matrix metalloproteinase 9), 10 MMP13 (matrix metalloproteinase 13), 10 and AXIN2 (axin-related protein 2) 20 have been associated with non-syndromic TA. However, to the best of our knowledge, this is the first study evaluating genetic ESR2 and tooth agenesis Marañón-Vásquez et al…”

“…6 However, several studies have proposed a strong genetic background for isolated TA. [6][7][8][9][10][11][12] Estrogen regulates cell growth, differentiation, and development. Cellular signaling of estrogen is mediated by estrogens receptors (ER), which have two forms: and .…”

Dudak Damak Yariği Etyoloji̇si̇nde Genleri̇n Ve Gen-Çevre Etki̇leşi̇mi̇ni̇n Rolü

“…95,96  Bone Morphogenetic Büyüme Faktörü (BMP4) Brezilya popülasyonunda yapılan bir çalışmada BMP4'ün oral yarıklar için kontrol grubuna göre risk faktörü olduğu tespit edilmiştir. 71 Dudak damak yarığıyla ilgili olduğu düşünülen diğer bazı genlerle ilgili çalışmalar devam etmektedir (FOXE1,SUMO1, TBX22, TBX10, SPRY2, GABRB3, TP63, CRISPDL2, RYK). 97 Yeni çalışmalar ile her geçen gün yeni aday genler gün yüzüne çıkarılmaktadır.…”