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Single nucleotide polymorphism associated with nonsyndromic cleft palate influences the processing of miR-140

Ling Li1, Tian Meng, Zhonglin Jia

  • 1State Key Laboratory of Oral Disease, West China College of Stomatology, Sichuan University, Chengdu, PR China.

American Journal of Medical Genetics. Part A
|April 2, 2010
PubMed

Insights

A common genetic variant in the microRNA-140 gene (rs7205289: C>A) is associated with nonsyndromic cleft palate. This single nucleotide polymorphism affects microRNA-140 processing, increasing susceptibility to this developmental malformation.

Area of Science:

  • Developmental Biology
  • Genetics
  • Molecular Biology

Background:

  • Nonsyndromic oral cleft is a frequent human developmental defect.
  • MicroRNAs (miRNAs) are key regulators of embryonic development, including palatal formation.
  • MicroRNA-140-5p (miR-140-5p) has been implicated in regulating palatal development.

Purpose of the Study:

  • To investigate the role of sequence variants in the miRNA-140 gene in nonsyndromic oral cleft (NSOC).
  • To identify potential associations between a specific single nucleotide polymorphism (SNP) in precursor miRNA-140 (pre-miR-140) and NSOC susceptibility.
  • To elucidate the functional impact of the identified SNP on miR-140 processing and expression.

Main Methods:

  • A case-control study was conducted with 557 NSOC patients and 306 controls from west China.
  • Genotyping for the SNP rs7205289 (C>A) in pre-miR-140 was performed.
  • Expression vectors containing primary miRNA-140 (pri-miR-140) with either the C or A allele were constructed and transfected into HEK293 cells.
  • Northern blot analysis was used to detect mature miR-140 forms.

Main Results:

  • The frequency of the minor allele (A allele) of rs7205289 was significantly higher in nonsyndromic cleft palate (NSCP) patients compared to controls (P = 0.003 after Bonferroni correction).
  • Transfection experiments revealed that the A allele of rs7205289 significantly altered miR-140 processing.
  • Specifically, the A allele led to a notable decrease in mature miR-140-5p and a concurrent increase in miR-140-3p compared to the C allele.

Conclusions:

  • The SNP rs7205289 located in pre-miR-140 is associated with increased susceptibility to nonsyndromic cleft palate.
  • This genetic variant influences the processing of miR-140, leading to altered levels of its mature forms.
  • The findings suggest a mechanism by which pre-miR-140 variants contribute to the etiology of nonsyndromic oral clefts.

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