MTHFR 677CT POLYMORPHISM AND CLEFT LIP AND PALATE ANOMALIES
Introduction/Abstract
A sufficient bioavailability of active folate seems to be important for normal early development of the embryo. Maternal folate insufficiency has been found more frequently in spina bifida and nonsyndromic cleft lip and/or palate (NCLP). It may be due to a mutation of a folate pathway gene or a low dietary intake.
Purpose
Compare and discuss proportions of MTHFR 677 CT genotypes and C and T allele frequencies in samples from Guatemala City, Guatemala, and Cebu City, Philippines.
Method
Guatemala study (DeLurgio et al.2009) and Philippines study (Chandwani et al, 2009) used case control study design comparing in each population a sample of cases (individuals affected with NCLP) with controls (unaffected individuals with no family history of any birth defect). Altogether, venous blood specimens were obtained from 242 cases and 218 controls from Guatemala and 145 cases and 120 controls from Philippines and DNA was analyzed using our standard laboratory protocol.
Results
In the Guatemala sample, statistically significant difference (p = 0.0045) was found between genotype distributions in cases and controls (genotypes in cases - CC =7.4 %, CT=46.7%, TT =45.9%; in controls CC=16.1 %, CT=48.6 %, TT=35.3 %) and also in allele frequencies (p = 0.03). The T allele frequency was 0.692 in cases and 0.596 in controls. In the Philippine sample, no statistically significant differences between genotype distributions and allele frequencies of cases and controls were found. The T allele frequency was 0.09 in cases and 0.10 in controls.
Significance
Etiology of NCLP is multifactorial comprising both genetic and environmental factors. Association of NCLP with C677T polymorphism of MTHFR was found in the Guatemalan sample but not in the Philippine sample. However, Tolar found in the same Philippine population an association with a low maternal plasma folate levels (Tolar et al. 2007). Both examples document an important role of folate in early embryonal development of the face. In Guatemala, a folate insufficiency could be related to a higher frequency of T allele, in Cebu City, it was probably related to a low nutritional intake of folate by mothers. Studies of this kind support prevention of NCLP by folate supplementation.
Location
DeRosa University Center, Stockton campus, University of the Pacific
Format
Poster Presentation
MTHFR 677CT POLYMORPHISM AND CLEFT LIP AND PALATE ANOMALIES
DeRosa University Center, Stockton campus, University of the Pacific
A sufficient bioavailability of active folate seems to be important for normal early development of the embryo. Maternal folate insufficiency has been found more frequently in spina bifida and nonsyndromic cleft lip and/or palate (NCLP). It may be due to a mutation of a folate pathway gene or a low dietary intake.
