Genetic Study of the Clusterin Gene in Pseudoexfoliation Syndrome
Author Information
Author(s): Burdon Kathryn P., Sharma Shiwani, Hewitt Alex W., McMellon Amy E., Wang Jie Jin, Mackey David A., Mitchell Paul, Craig Jamie E.
Primary Institution: Flinders University
Hypothesis
Can common genetic variation in the clusterin gene explain susceptibility to pseudoexfoliation syndrome?
Conclusion
Common variants in the clusterin gene are not strong genetic modifiers of the risk of developing pseudoexfoliation syndrome in the Australian population.
Supporting Evidence
- Clusterin was identified in normal human iris, ciliary body, lens capsule, optic nerve, and aqueous humor.
- One haplotype of all nine CLU SNPs was associated with pseudoexfoliation syndrome.
- The mean age of pseudoexfoliation cases was significantly higher than that of controls.
Takeaway
This study looked at a gene called clusterin to see if it affects a condition that can lead to eye problems. They found that it doesn't play a big role in causing the condition.
Methodology
The study involved genotyping nine SNPs across the clusterin gene in 86 cases of pseudoexfoliation syndrome and 2422 controls, along with western blotting to assess protein expression.
Limitations
The study may not have sufficient power to detect very small genetic effects, and the age difference between cases and controls could affect results.
Participant Demographics
The majority of participants were of Northwestern European descent, with 57% male and a mean age of 70.1 years.
Statistical Information
P-Value
p=0.044 for SNP rs3087554
Confidence Interval
95% CI 0.81–3.26 for haplotype 4
Statistical Significance
p<0.05
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