Variation in optineurin (OPTN) allele frequencies between and within populations
Author Information
Author(s): Ayala-Lugo Rosa M., Pawar Hemant, Reed David M., Lichter Paul R., Moroi Sayoko E., Page Michael, Eadie James, Azocar Veronica, Maul Eugenio, Ntim-Amponsah Christine, Bromley William, Obeng-Nyarkoh Ebenezer, Johnson A. Tim, Kijek Theresa Guckian, Downs Catherine A., Johnson Jenae M., Perez-Grossmann Rodolfo A., Guevara-Fujita Maria-Luisa, Fujita Ricardo, Wallace Margaret R., Richards Julia E.
Primary Institution: The University of Michigan
Hypothesis
To evaluate the extent to which mutations in the optineurin (OPTN) glaucoma gene play a role in glaucoma in different populations.
Conclusion
The study provides additional evidence supporting the association of the OPTN E50K mutation with glaucoma, while indicating that the 691_692insAG variant is rare and that R545Q is not associated with glaucoma in most populations.
Supporting Evidence
- The E50K mutation was found in one individual with normal tension glaucoma.
- The 691_692insAG variant was identified in one Ashkenazi Jewish individual.
- The R545Q variant was found in two Asian individuals with primary open-angle glaucoma.
- Combined analysis indicates no association of R545Q with glaucoma in most populations.
- Statistically significant evidence of association of M98K with normal tension glaucoma in Asian populations.
Takeaway
Researchers looked at how certain gene changes might cause glaucoma in different groups of people and found some interesting patterns.
Methodology
Case-controlled study analyzing OPTN sequence variants in individuals with or without glaucoma from various ancestral backgrounds.
Potential Biases
Potential biases due to the small sample sizes in some populations and the variability in allele frequencies.
Limitations
The study's conclusions about allele frequency differences may be affected by demographic, technical, or ascertainment differences among the studies.
Participant Demographics
314 subjects with African, Asian, Caucasian, and Hispanic ancestries.
Statistical Information
P-Value
p<0.05
Statistical Significance
p<0.05
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