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