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Methylenetetrahydrofolate reductase gene polymorphisms and cerebral palsy in Chinese infants

Xiuyong Cheng1, Tongchuan Li, Honglian Wang

  • 1Department of Pediatrics, Children's Hospital of Fudan University, Shanghai, PR China.

Journal of Human Genetics
|October 22, 2010
PubMed

Insights

Methylenetetrahydrofolate reductase (MTHFR) gene variations are not linked to cerebral palsy (CP) alone. However, specific MTHFR polymorphisms may increase the risk of CP combined with mental retardation in Chinese infants.

Area of Science:

  • Genetics
  • Neurology
  • Pediatrics

Background:

  • Methylenetetrahydrofolate reductase (MTHFR) gene polymorphisms are hypothesized to influence cerebral palsy (CP) risk, but evidence remains inconclusive.
  • Understanding genetic factors in CP is crucial for early diagnosis and intervention strategies.

Purpose of the Study:

  • To investigate the association between MTHFR gene polymorphisms and the development of cerebral palsy (CP) in Chinese infants.
  • To explore potential genetic contributions to CP, particularly when comorbid with mental retardation (MR).

Main Methods:

  • Genotyping of five single nucleotide polymorphisms (SNPs) in the MTHFR gene (rs4846049, rs1476413, rs1801131, rs1801133, rs9651118) using TaqMan technology.
  • Comparison of allele and genotype frequencies between 159 infants with CP (including 43 with CP + MR) and 169 healthy controls.

Main Results:

  • No significant differences in MTHFR allele or genotype frequencies were observed between the overall CP group and controls.
  • Subgroup analysis revealed significant differences in allele and genotype frequencies at rs4846049, rs1476413, and rs1801131 between infants with CP + MR and CP-only cases/controls.
  • Increased frequencies of T alleles at rs4846049 and rs1476413, and the G allele at rs1801131, were found in the CP + MR group.

Conclusions:

  • MTHFR gene polymorphisms do not appear to be a significant risk factor for CP in general among Chinese infants.
  • Specific MTHFR polymorphisms (rs4846049, rs1476413, rs1801131) may represent potential risk factors for the development of CP specifically when combined with mental retardation.

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