Study of LOXL1 Gene Variations in Japanese Patients with Exfoliation Glaucoma
Author Information
Author(s): Nobuo Miyazawa, Akiko Nakazawa, Toru Mengkegale Ming, Ge Otomo, Takaaki Nishida, Kohji
Primary Institution: Tohoku University Graduate School of Medicine
Hypothesis
To investigate the LOXL1 gene for SNP variations in Japanese patients with exfoliation syndrome and exfoliation glaucoma.
Conclusion
SNPs of LOXL1 are highly associated with exfoliation syndrome in the Japanese population.
Supporting Evidence
- Two nonsynonymous variants in LOXL1 were found to be strongly associated with XFS.
- The frequency of the T allele in rs1048661 was much higher in XFS patients compared to controls.
- The odds ratio for the T allele in rs1048661 was 26.0.
Takeaway
This study looked at a gene related to eye problems in Japanese people and found that certain gene changes are linked to a condition that can cause glaucoma.
Methodology
Fifty-six unrelated Japanese patients with XFS were studied, and genomic DNA was extracted to identify three SNPs using PCR and sequencing.
Limitations
Unidentified genetic or environmental factors may influence the phenotypic expression of the syndrome.
Participant Demographics
56 unrelated Japanese patients with XFS, including 36 patients with XFG; mean age 74.75 years.
Statistical Information
P-Value
7.7x10−18
Confidence Interval
95% CI, 18.3–37.1
Statistical Significance
p<0.05
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