Study of SP4 Gene Variants in Retinal Degeneration
Author Information
Author(s): Gao Yong-Qing, Danciger Michael, Özgül Riza Köksal, Gribanova Yekaterina E., Jacobson Samuel G., Farber Debora B.
Primary Institution: Jules Stein Eye Institute, David Geffen School of Medicine at UCLA
Hypothesis
Are mutations in the SP4 gene associated with different forms of retinal degeneration?
Conclusion
Mutations in the SP4 gene may be involved in retinal degenerative diseases, but their frequency appears to be low.
Supporting Evidence
- Nine different sequence variants were found in 29 patients.
- The Asn306Ser mutation was found predominantly in Hispanic patients.
- The study suggests a possible digenic inheritance involving SP4 and GNB1.
Takeaway
The researchers looked at a gene called SP4 in people with eye diseases and found some changes in the gene that might be linked to these diseases, especially in Hispanic patients.
Methodology
The study screened 270 patients for mutations in the SP4 gene using SSCP analysis and direct sequencing.
Limitations
The study could not definitively establish a causal relationship between SP4 mutations and retinal degeneration.
Participant Demographics
The cohort included 56% European, 17% Asian, 13% Black, and 14% Hispanic patients.
Statistical Information
P-Value
p<0.001
Statistical Significance
p<0.001
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