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MTHFR and MTHFD1 gene polymorphisms are not associated with pseudoexfoliation syndrome in South Indian population

Prakadeeswari Gopalakrishnan1, Aravind Haripriya2, Periasamy Sundaresan3

  • 1Department of Genetics, Aravind Medical Research Foundation, Dr G. Venkataswamy Eye Research Institute, Anna Nagar 1, Madurai, Tamil Nadu, 625020, India.

International Ophthalmology
|March 17, 2017
PubMed
Abstract

Insights

This study found no significant genetic link between MTHFR and MTHFD1 gene polymorphisms and pseudoexfoliation syndrome (PEX) in South Indian patients. Further research is needed to understand PEX genetics.

Area of Science:

  • Ophthalmology
  • Genetics
  • Cardiovascular Health

Background:

  • Pseudoexfoliation syndrome (PEX) is a disorder of extracellular matrix turnover linked to cardiovascular and cerebrovascular diseases.
  • Investigating genetic factors in PEX is crucial for understanding its systemic associations.

Purpose of the Study:

  • To evaluate the association between polymorphisms in homocysteine metabolism genes (MTHFR and MTHFD1) and PEX.
  • Specifically, to analyze MTHFR (rs1801131, rs1801133) and MTHFD1 (rs8006686) SNPs in relation to PEX.

Main Methods:

  • A case-control association study involving 1472 individuals (860 PEX cases, 612 cataract controls).
  • Genotyping of three single nucleotide polymorphisms (SNPs) using the TaqMan allelic discrimination assay.
  • Statistical analysis performed using PLINK 1.07 and STATA 11.1.

Main Results:

  • MTHFR polymorphisms (rs1801131, rs1801133) showed no significant association with PEX.
  • MTHFD1 SNP (rs8006686) exhibited a near-significant association (p=0.069) but did not remain significant after Bonferroni correction.

Conclusions:

  • The study found no significant genetic association of the investigated MTHFR and MTHFD1 polymorphisms with PEX in South Indian patients.
  • These findings suggest that these specific homocysteine metabolism gene variants may not play a major role in PEX pathogenesis in this population.
Keywords:
HomocysteineMTHFD1MTHFRPEXPolymorphisms

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