The pathogenesis of cleft lip with or without cleft palate (CL/P) is complex; its onset could be due to the interaction of various genetic and environmental factors. Recently MTHFR functional polymorphisms were found to increase the risk of this common malformation; however, this finding is still debated. We investigated 110 sporadic CL/P patients, their parents and 289 unrelated controls for c.665C>T (commonly known as 677C>T; p.Ala222Val) and c.1286A>C (known as 1298A>C; p.Glu429Ala) polymorphism in the MTHFR gene. Transmission disequilibrium test (TDT) showed no distortion in allele transmission. Nevertheless, association studies revealed significant differences in allele frequencies between mothers of CL/P patients and controls. This work supports the hypothesis that a lower MTHFR enzyme activity in pregnant women, mostly related to the c.665C>T variant form, is responsible for a higher risk of having CL/P affected offspring

Maternal MTHFR variant forms increase the risk in offspring of isolated nonsyndromic cleft lip with or without cleft palate / PEZZETTI F; MARTINELLI M; SCAPOLI L; CARINCI F; PALMIERI A; MARCHESINI J; CARINCI P; CARAMELLI E.; RULLO R; GOMBOS F; TOGNON M.. - In: HUMAN MUTATION. - ISSN 1059-7794. - STAMPA. - 24:(2004), pp. 104-105.

Maternal MTHFR variant forms increase the risk in offspring of isolated nonsyndromic cleft lip with or without cleft palate.

PEZZETTI, FURIO;MARTINELLI, MARCELLA;SCAPOLI, LUCA;PALMIERI, ANNALISA;CARINCI, PAOLO;CARAMELLI, ELISABETTA;
2004

Abstract

The pathogenesis of cleft lip with or without cleft palate (CL/P) is complex; its onset could be due to the interaction of various genetic and environmental factors. Recently MTHFR functional polymorphisms were found to increase the risk of this common malformation; however, this finding is still debated. We investigated 110 sporadic CL/P patients, their parents and 289 unrelated controls for c.665C>T (commonly known as 677C>T; p.Ala222Val) and c.1286A>C (known as 1298A>C; p.Glu429Ala) polymorphism in the MTHFR gene. Transmission disequilibrium test (TDT) showed no distortion in allele transmission. Nevertheless, association studies revealed significant differences in allele frequencies between mothers of CL/P patients and controls. This work supports the hypothesis that a lower MTHFR enzyme activity in pregnant women, mostly related to the c.665C>T variant form, is responsible for a higher risk of having CL/P affected offspring
2004
Maternal MTHFR variant forms increase the risk in offspring of isolated nonsyndromic cleft lip with or without cleft palate / PEZZETTI F; MARTINELLI M; SCAPOLI L; CARINCI F; PALMIERI A; MARCHESINI J; CARINCI P; CARAMELLI E.; RULLO R; GOMBOS F; TOGNON M.. - In: HUMAN MUTATION. - ISSN 1059-7794. - STAMPA. - 24:(2004), pp. 104-105.
PEZZETTI F; MARTINELLI M; SCAPOLI L; CARINCI F; PALMIERI A; MARCHESINI J; CARINCI P; CARAMELLI E.; RULLO R; GOMBOS F; TOGNON M.
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11585/1144
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