Lack of association of polymorphisms in homocysteine metabolism genes with pseudoexfoliation syndrome and glaucoma
2008

Study of Genes Related to Homocysteine Metabolism in Pseudoexfoliation Syndrome and Glaucoma

Sample size: 186 publication Evidence: low

Author Information

Author(s): Fan Bao Jian, Chen Teresa, Grosskreutz Cynthia, Pasquale Louis, Rhee Douglas, DelBono Elizabeth, Haines Jonathan L., Wiggs Janey L.

Primary Institution: Harvard Medical School, Massachusetts Eye and Ear Infirmary

Hypothesis

Could genes involved in homocysteine metabolism be secondary risk factors for pseudoexfoliation syndrome and glaucoma?

Conclusion

The study found that the evaluated genes are not significant risk factors for pseudoexfoliation syndrome and glaucoma.

Supporting Evidence

  • Only one SNP showed a nominally significant association with PXFG.
  • None of the SNPs were significantly associated after correcting for multiple comparisons.
  • Patients with PXFS had mild elevations of homocysteine in serum and aqueous humor.

Takeaway

The researchers looked at certain genes to see if they could cause eye problems, but they found that these genes don't really affect the risk.

Methodology

The study involved genotyping 17 SNPs from 5 genes in 186 patients with pseudoexfoliation syndrome and 127 control subjects, followed by statistical analysis.

Limitations

The study may have missed other variants in the genes that could be associated with the disease due to the use of tag SNPs.

Participant Demographics

Participants were Caucasian of European ancestry, with an average age of 75 for patients and 72 for controls.

Statistical Information

P-Value

p=0.015 for one SNP, but not significant after correction for multiple comparisons.

Confidence Interval

95% CI: 1.16, 3.71 for one SNP before correction.

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