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Association of MTHFR, BMP4, TGFA and IRF6 Polymorphisms with Non-Syndromic Cleft lip and Palate in North Indian

Kapil Kumar Avasthi1, Amit Agarwal2, Sarita Agarwal1

  • 1Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences (SGPGIMS), Lucknow 226014, India.

Avicenna Journal of Medical Biotechnology
|May 31, 2022
PubMed

Insights

Genetic variations in MTHFR, BMP4, and TGFA genes are linked to non-syndromic cleft lip and palate (NSCL/P) in the Indian population, indicating a potential risk factor. Further research is needed to explore these associations.

Area of Science:

  • Genetics
  • Birth Defects
  • Molecular Biology

Background:

  • Non-syndromic cleft lip and palate (NSCL/P) is a common multifactorial birth defect with a global prevalence of approximately 1 in 1000 live births.
  • Prevalence rates of NSCL/P exhibit variations across different racial, ethnic, and gender groups.
  • Understanding the genetic underpinnings of NSCL/P is crucial for developing effective prevention and treatment strategies.

Purpose of the Study:

  • To investigate the association between specific gene polymorphisms and the occurrence of NSCL/P in an Indian population.
  • To identify candidate genes that may act as risk factors for NSCL/P.
  • To correlate genetic findings with the phenotypic presentation of NSCL/P patients.

Main Methods:

  • Screening of five polymorphisms in four candidate genes: MTHFR (rs1801133, rs1801131), BMP4 (rs17563), TGFA (rs1146297), and IRF6 (rs2235371).
  • Genotyping was performed using restriction fragment length polymorphism and validated by Sanger sequencing.
  • A case-control study design involving 200 NSCL/P cases and 200 healthy controls from the Indian population, with statistical analysis using SPSS software.

Main Results:

  • Significant associations were found between MTHFR (rs1801133), BMP4 (rs175563), and TGFA (rs11466297) gene polymorphisms and NSCL/P in the Indian population (p<0.05).
  • These identified polymorphisms were associated with an increased risk of NSCL/P.
  • No significant association was observed for MTHFR (rs1801131) and IRF6 (rs2235371) gene polymorphisms with NSCL/P in the studied population.

Conclusions:

  • The study concludes that MTHFR (rs1801133), BMP4 (rs175563), and TGFA (rs11466297) polymorphisms are associated with NSCL/P in the Indian population.
  • These genetic variations may contribute to the risk of developing NSCL/P.
  • Further research is warranted to elucidate the precise mechanisms underlying these genetic associations.
Abstract

Keywords:
BMP4IRF6Indian populationMTHFRNSCL/PTGFA

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