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Midface Hypoplasia and Cranial Base Morphology in Syndromic Craniosynostosis: A Comparative Analysis Study Using a Predictive Regression Model
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Infants' MTHFR polymorphisms and nonsyndromic orofacial clefts susceptibility: a meta-analysis based on 17

Yongchu Pan1, Weibing Zhang, Junqing Ma

  • 1Institute of Stomatology, Department of Epidemiology, Nanjing Medical University, Nanjing, China.

American Journal of Medical Genetics. Part A
|August 1, 2012
PubMed

Insights

Infants with MTHFR C677T and A1298C gene variants have an increased risk of nonsyndromic orofacial clefts (NSOC), particularly in Asian populations. These MTHFR polymorphisms are confirmed to be involved in NSOC development.

Area of Science:

  • Genetics
  • Developmental Biology
  • Nutritional Biochemistry

Background:

  • Methylenetetrahydrofolate reductase (MTHFR) is crucial for folate metabolism.
  • MTHFR gene variants are implicated in nonsyndromic orofacial clefts (NSOC) risk.
  • Previous studies on MTHFR C677T and A1298C polymorphisms in NSOC yielded conflicting results.

Purpose of the Study:

  • To conduct a meta-analysis to clarify the association between MTHFR C677T and A1298C polymorphisms and NSOC risk.
  • To provide precise estimations of the risk conferred by these MTHFR variants.

Main Methods:

  • A meta-analysis was performed, aggregating data from 17 case-control studies.
  • Infants' MTHFR C677T and A1298C polymorphisms were analyzed.
  • Stratified analyses were conducted by ethnicity and cleft types.

Main Results:

  • Infants' MTHFR C677T variants (CT, TT, CT/TT) were associated with increased NSOC risk in Asians.
  • The MTHFR 677T allele showed an elevated risk in Asians.
  • The MTHFR A1298C 1298C allele demonstrated a protective effect against NSOC in Caucasians.

Conclusions:

  • Infants' MTHFR C677T and A1298C polymorphisms are confirmed to be involved in NSOC development.
  • Ethnic differences exist in the association between MTHFR variants and NSOC risk.
  • MTHFR C677T variants increase NSOC risk in Asians, while A1298C variants may offer protection in Caucasians.

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