Methylenetetrahydrofolate reductase C677T variant in Indian children with craniosynostosis: Its role in the pathogenesis, risk of craniosynostosis.
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Date
2014-04
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Abstract
BACKGROUND : 677C to T allele in the 5,
10‑methylenetetrahydrofolate reductase (MTHFR) gene
has been implicated in the etiology of various syndromes
and nonsyndromic diseases but till date no direct studies
have been reported with craniosynostosis.
OBJECTIVES: The aim was to study the family‑based
association of MTHFR polymorphism in different categories
of craniosynostosis patients.
MATERIALS AND METHODS: This was a cross‑sectional
study in which 30 patients classified as Apert syndrome,
Pfeiffr syndrome and nonsyndromic craniosynostosis
patients with their family were recruited. A sample
of 3 ml intravenous blood was taken from patients
and from their family members (father and mother) in
ethylenediaminetetraacetic acid‑anticoagulated vacutainer
for the purpose of the study. Genomic DNA was extracted
from peripheral blood lymphocytes by phenol chloroform
extraction method. Primers for MTHFR gene were
designed. The polymerase chain reaction was carried out.
After successful amplification, a small aliquot (5 µl) of the
MTHFR reaction mixture was treated with 1 units of Hinf
I restriction enzyme (NEB). Results were obtained and
compiled.
RESULTS: A total of 30 patients/participants with
craniosynostosis of Indian descent and their parents
formed the study group. The genotyping did not confirm an
association between the MTHFR 677C to T polymorphism
and between different categories of craniosynostosis. When
comparing the offspring of mothers statistically significant
differences were found. CONCLUSION: C667T polymorphism of the MTHFR
gene is unlikely to play a role in the pathogenesis of
craniosynostosis though maternal MTHFR C677T
polymorphism may be a genetic risk factor.
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Keywords
craniosynostosis, gene, methylenetetrahydrofolate reductase, polymorphism
Citation
Pandey Rajeev Kumar, Ali Abid, Singh Amit, Gayan Sukanya, Bajpai Minu. Methylenetetrahydrofolate reductase C677T variant in Indian children with craniosynostosis: Its role in the pathogenesis, risk of craniosynostosis. Indian Journal of Human Genetics. 2014 Apr-Jun ; 20 (2): 155-159.