title: Study of ABCB1 multidrug resistance protein in a common orofacial malformation.
abstract: The onset of embryonic malformations is greatly determined by the intrauterine environment, conditioned by maternal lifestyle, diet, drugs and medication intake, in addition to both foetal and maternal genotypes. Maternal C677T MTHFR genotype has been identified as important factor in cleft lip with or without cleft palate (CL/P) etiology. In the present study we evaluated the possible interaction between maternal methylenetetrahydrofolate reductase (MTHFR) and foetal ABCB1 genotypes. ABCB1 gene codes for a drug-transport pump in charge to protect the cell by extruding a variety of harmful exogens, but with a reduced activity in a folate-restricted condition. Maternal 677T genotype is translated in a reduced folate availability for the developing embryo who consequently may becomes more exposed to external insults. A family based association analysis was performed to test the effect of ABCB1 polymorphisms in clefting, in the whole sample and in the stratified sample accordingly to maternal MTHFR genotype. No evidence of association between ABCB1 polymorphisms and CL/P was detected. This suggests that ABCB1 or ABCB1-MTHFR feto-maternal interaction could have no effect in orofacial clefting or could play a role in a limited number of cases.
authors.affiliation: Department of Histology, Embryology and Applied Biology, Centre of Molecular Genetics, University of Bologna, Bologna, Italy.
authors.forename: M
authors.initials: M
authors.lastname: Martinelli
authors.forename: F
authors.initials: F
authors.lastname: Carinci
authors.forename: P G
authors.initials: PG
authors.lastname: Morselli
authors.forename: A
authors.initials: A
authors.lastname: Palmieri
authors.forename: A
authors.initials: A
authors.lastname: Girardi
authors.forename: F
authors.initials: F
authors.lastname: Farinella
authors.forename: U
authors.initials: U
authors.lastname: Baciliero
authors.forename: L
authors.initials: L
authors.lastname: Scapoli
mesh_terms: D018435:ATP Binding Cassette Transporter, Subfamily B; D020168:ATP Binding Cassette Transporter, Subfamily B, Member 1 / Q000235:genetics*; D002971:Cleft Lip / Q000235:genetics*; D002972:Cleft Palate / Q000235:genetics*; D005260:Female; D005838:Genotype; D006801:Humans; D007558:Italy; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D044465:White People / Q000235:genetics
chemical_list: C513055:ABCB1 protein, human; D018435:ATP Binding Cassette Transporter, Subfamily B; D020168:ATP Binding Cassette Transporter, Subfamily B, Member 1; C573423:MTHFR protein, human; D042965:Methylenetetrahydrofolate Reductase (NADPH2)