Lysyl oxidase-like 1 gene polymorphisms in Japanese patients with glaucoma
Author Information
Author(s): Mabuchi Fumihiko, Sakurada Yoichi, Kashiwagi Kenji, Yamagata Zentaro, Iijima Hiroyuki, Tsukahara Shigeo
Primary Institution: University of Yamanashi
Hypothesis
Are lysyl oxidase-like 1 (LOXL1) polymorphisms associated with primary open-angle glaucoma (POAG) and exfoliation syndrome (XFS)?
Conclusion
LOXL1 polymorphisms were associated with XFS but not with POAG, and their frequencies differ between Japanese and Caucasian patients.
Supporting Evidence
- XFS patients had significantly higher frequencies of the T allele of rs1048661 and the G allele of rs3825942 compared to control subjects.
- An almost 250 fold increase in the risk of XFS was found in patients with the TT/GG compound genotype.
- No significant differences in genotype and allele frequencies were found between POAG patients and control subjects.
Takeaway
This study looked at genes that might cause a type of eye disease called XFS, finding that certain gene changes are linked to it, but not to another condition called POAG.
Methodology
The study analyzed LOXL1 polymorphisms in Japanese patients with POAG and XFS, comparing them to control subjects.
Limitations
The study focused only on Japanese patients, which may limit the generalizability of the findings.
Participant Demographics
Japanese patients aged 20 to 95 years for POAG and 60 to 92 years for XFS.
Statistical Information
P-Value
p<0.0001
Confidence Interval
32.7 to more than 1000
Statistical Significance
p<0.0001
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