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

Abstract：

PURPOSE:Pseudoexfoliation syndrome (PEX) is a late onset disorder of extracellular matrix turnover, associated systemically with cardiovascular and cerebrovascular disease. To evaluate the suggested association of polymorphisms of homocysteine metabolism genes MTHFR (rs1801131, rs1801133) and MTHFD1 (rs8006686) with PEX. METHODS:A case-control association study was undertaken, comprising a total of 1472 individuals including 860 unrelated PEX cases and 612 ethnic-matched cataract controls (CC). All the study subjects were genotyped for three SNPs using the TaqMan allelic discrimination assay. Association and statistical analysis were performed with PLINK 1.07 and STATA 11.1. RESULTS:Among the three SNPs genotyped, MTHFR polymorphisms did not exhibit significant association with PEX (rs1801131; p = 0.549, rs1801133; p = 0.408). The intronic SNP rs8006686 showed nearly significant association (p = 0.069), and however did not remain significant after Bonferroni correction. CONCLUSION:Our study suggests no significant genetic association of MTHFR (rs1801131, rs1801133) and MTHFD1 (rs8006686) polymorphisms in South Indian PEX patients.

journal_name

Int Ophthalmol

journal_title

International ophthalmology

authors

Gopalakrishnan P,Haripriya A,Sundaresan P

doi

10.1007/s10792-017-0498-2

subject

Has Abstract

pub_date

2018-04-01 00:00:00

pages

599-606

issue

2

eissn

0165-5701

issn

1573-2630

pii

10.1007/s10792-017-0498-2

journal_volume

38

pub_type

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