期刊
HUMAN MUTATION
卷 24, 期 1, 页码 -出版社
WILEY-HINDAWI
DOI: 10.1002/humu.9257
关键词
Orofacial cleft; cleft lip with or without cleft palate; MTHFR
资金
- Telethon [E.1147]
- MIUR
- CNR Target Project Biotechnology 2
- Fondazione Cassa di Risparmio di Bologna
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. (c) 2004 Wiley-Liss, Inc.
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