LOXL1 Variations and Their Role in Pigment Dispersion Syndrome and Pigmentary Glaucoma
Author Information
Author(s): Rao Kollu Nageswara, Ritch Robert, Dorairaj Syril K., Kaur Inderjeet, Liebmann Jeffrey M., Thomas Ravi, Chakrabarti Subhabrata
Primary Institution: Hyderabad Eye Research Foundation, L.V. Prasad Eye Institute, Hyderabad, India
Hypothesis
Are LOXL1 SNPs involved in pigment dispersion syndrome and pigmentary glaucoma?
Conclusion
The study found no involvement of LOXL1 SNPs in patients with pigment dispersion syndrome and pigmentary glaucoma.
Supporting Evidence
- The LOXL1 SNPs showed no significant association with pigment dispersion syndrome or pigmentary glaucoma.
- There was no significant difference in the frequencies of the risk alleles between cases and controls.
- The risk haplotype 'G-G' was observed in approximately 55% of the normal controls.
Takeaway
The researchers looked at specific gene changes to see if they were linked to certain eye conditions, but they found that these changes weren't related to the conditions they studied.
Methodology
The study screened three LOXL1 SNPs in a cohort of 78 glaucoma cases and 108 normal controls, using genotyping and haplotype analysis.
Participant Demographics
Cohort included 78 unrelated patients with pigment dispersion syndrome and pigmentary glaucoma, and 108 ethnically matched normal controls of Caucasian origin.
Statistical Information
P-Value
{"rs1048661":0.309,"rs3825942":0.461,"rs2165241":0.432}
Confidence Interval
{"rs1048661":"95%CI, 0.59–1.97","rs3825942":"95%CI, 0.70–2.60"}
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