Study of Genetic Variants in Glaucoma Patients
Author Information
Author(s): Challa Pratap, Schmidt Silke, Liu Yutao, Qin Xuejun, Vann Robin R., Gonzalez Pedro, Allingham R. Rand, Hauser Michael A.
Primary Institution: Duke University Eye Center
Hypothesis
Are LOXL1 polymorphisms associated with pseudoexfoliation glaucoma in a U.S. population?
Conclusion
The study confirmed a strong association between certain LOXL1 SNPs and pseudoexfoliation glaucoma, but these associations are not strong enough for diagnostic use.
Supporting Evidence
- The study replicated the association of three SNPs previously linked to glaucoma.
- The risk alleles were found in 32.0% of XFG patients compared to 21.6% in controls.
- Sensitivity for the rs1048661 SNP was 95.7%, but specificity was only 13%.
Takeaway
The researchers looked at genes in people with a type of glaucoma and found some links, but these links aren't reliable enough to help doctors diagnose the disease.
Methodology
Patients with pseudoexfoliation glaucoma were genotyped for 13 SNPs using TaqMan assays, and allele frequencies were compared to controls.
Limitations
The high frequency of risk alleles in non-XFG individuals limits the use of these SNPs as diagnostic markers.
Participant Demographics
The study included 50 Caucasian patients with pseudoexfoliation glaucoma and 235 Caucasian controls, with a mean age of 74 for patients and 64.9 for controls.
Statistical Information
P-Value
0.001-0.02
Statistical Significance
p<0.05
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