A multi-centre gene-environment interaction study in orofacial clefting involving 1169 triads was carried out in 10 EU countries between 2001 and 2005. Genotyping was carried out successfully in Aberdeen, Dublin, Ferrara and Ljubljana for a range of genetic polymorphisms which included MTHFR TGFA TGFB3 SATB2 MSX1 CYP1A1 GST and NAT2. The Aberdeen centre completed a series of statistical analyses: informative case-parent triads were analysed by the transmission disequilibrium test and log-linear analysis was conducted for each of the polymorphisms, for all OFC combined, and for cleft lip and palate (CLP) and cleft palate only (CPO) separately. Among the results it was found that the MSX1 polymorphism conferred increased risk for CL(P) with maternal variant allele and a dominant effect (RR 1.34, p=0.05), but with CPO no effect was observed. All other results will be presented. In the future, additional genotyping for polymorphisms found to be significant in other populations, such as IRF6, FGFR1 and PVRL1 will be carried out.
EUROCRAN WP2
RUBINI, Michele;
2007
Abstract
A multi-centre gene-environment interaction study in orofacial clefting involving 1169 triads was carried out in 10 EU countries between 2001 and 2005. Genotyping was carried out successfully in Aberdeen, Dublin, Ferrara and Ljubljana for a range of genetic polymorphisms which included MTHFR TGFA TGFB3 SATB2 MSX1 CYP1A1 GST and NAT2. The Aberdeen centre completed a series of statistical analyses: informative case-parent triads were analysed by the transmission disequilibrium test and log-linear analysis was conducted for each of the polymorphisms, for all OFC combined, and for cleft lip and palate (CLP) and cleft palate only (CPO) separately. Among the results it was found that the MSX1 polymorphism conferred increased risk for CL(P) with maternal variant allele and a dominant effect (RR 1.34, p=0.05), but with CPO no effect was observed. All other results will be presented. In the future, additional genotyping for polymorphisms found to be significant in other populations, such as IRF6, FGFR1 and PVRL1 will be carried out.I documenti in SFERA sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
