AIM OF STUDY: The aim of this study was to investigate the contribution of reported candidate genes: VAX1 (rs7078160) and BMP4 (rs762642) to the risk of cleft lip with or without cleft palate in the Polish population. MATERIALS AND METHODS: Salivary DNA was obtained from 209 individuals with nonsyndromic cleft lip with or without cleft palate and 418 healthy matched control group. We performed an analysis of polymorphisms of VAX1 (rs7078160) and BMP4 (rs762642) genes. These genes are involved in facial development during pregnancy and may contribute to orofacial clefting risk. Single nucleotide polymorphisms (SNPs) were investigated by real-time PCR- based TaqMan genotyping (Light Cycler 480 II; Roche Diagnostics). To assess the clefting risk for each genotype the odds ratio (OR) was calculated. RESULTS: Conducted logistic regression did not confirm modificatory influence of rs7078160 in VAX1 gene on cleft lip with or without cleft palate risk. For AA genotype OR=1.81 (p=0.211), and for AG genotype OR=0.8 (p=0.313). Also a modificatory influence of rs762642 in BMP4 gene on orofacial clefting risk was not significant. OR=0.82 for GG genotype (p=0.471), while for GT genotype OR=1.17 (p=0.487). CONCLUSIONS: No correlation between polymorphisms: rs7078160, rs762642 and nonsyndromic cleft lip with or without cleft palate risk in Polish population was observed.
AIM OF STUDY: The aim of this study was to investigate the contribution of reported candidate genes: VAX1 (rs7078160) and BMP4 (rs762642) to the risk of cleft lip with or without cleft palate in the Polish population. MATERIALS AND METHODS: Salivary DNA was obtained from 209 individuals with nonsyndromic cleft lip with or without cleft palate and 418 healthy matched control group. We performed an analysis of polymorphisms of VAX1 (rs7078160) and BMP4 (rs762642) genes. These genes are involved in facial development during pregnancy and may contribute to orofacial clefting risk. Single nucleotide polymorphisms (SNPs) were investigated by real-time PCR- based TaqMan genotyping (Light Cycler 480 II; Roche Diagnostics). To assess the clefting risk for each genotype the odds ratio (OR) was calculated. RESULTS: Conducted logistic regression did not confirm modificatory influence of rs7078160 in VAX1 gene on cleft lip with or without cleft palate risk. For AA genotype OR=1.81 (p=0.211), and for AG genotype OR=0.8 (p=0.313). Also a modificatory influence of rs762642 in BMP4 gene on orofacial clefting risk was not significant. OR=0.82 for GG genotype (p=0.471), while for GT genotype OR=1.17 (p=0.487). CONCLUSIONS: No correlation between polymorphisms: rs7078160, rs762642 and nonsyndromic cleft lip with or without cleft palate risk in Polish population was observed.
Authors: M Phan; F Conte; K D Khandelwal; C W Ockeloen; T Bartzela; T Kleefstra; H van Bokhoven; M Rubini; H Zhou; C E L Carels Journal: Hum Genet Date: 2016-10-03 Impact factor: 4.132