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Variable contribution of the MTHFR C677T polymorphism to non-syndromic cleft lip and palate risk in China

JiangHui Zhu1, AiGuo Ren, Ling Hao

  • 1Institute of Reproductive Health, Peking University Health Science Center, Beijing, China. zhujh@ncmih.bjmu.edu.cn

American Journal of Medical Genetics. Part A
|February 14, 2006
PubMed

Insights

Methylenetetrahydrofolate reductase (MTHFR) gene polymorphism is a risk factor for non-syndromic cleft lip/palate in Northern China. This genetic factor was not significantly associated in Southern Chinese populations, suggesting regional differences.

Area of Science:

  • Genetics
  • Developmental Biology
  • Public Health

Background:

  • Non-syndromic cleft lip with or without cleft palate (nsCL/P) is a common birth defect.
  • Folic acid supplementation may reduce nsCL/P, but the mechanism is unclear.
  • Regional variations in nsCL/P occurrence and risk factors are observed.

Purpose of the Study:

  • To investigate the association between methylenetetrahydrofolate reductase (MTHFR) gene polymorphism and nsCL/P.
  • To explore potential genetic heterogeneity in nsCL/P between Northern and Southern Chinese populations.

Main Methods:

  • A case-parent triad study involving 170 Chinese families.
  • Genotyping of the MTHFR C677T polymorphism.
  • Statistical analysis of allele transmission and association with nsCL/P.

Main Results:

  • A moderate association was found between MTHFR C677T polymorphism and nsCL/P in Northern China.
  • This association was not significant in Southern China.
  • Heterozygous parents in the North were twice as likely to transmit the high-risk T allele to affected offspring compared to the South (OR = 2.24).

Conclusions:

  • MTHFR C677T polymorphism is a significant risk factor for nsCL/P in Northern China.
  • Genetic heterogeneity in nsCL/P development may exist between Northern and Southern Chinese populations.
  • Further research is needed to elucidate the underlying mechanisms.

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