Variants in Selectin Genes and Age-Related Macular Degeneration
Author Information
Author(s): Mullins Robert F, Skeie Jessica M, Folk James C, Solivan-Timpe Frances M, Oetting Thomas A, Huang Jian, Wang Kai, Stone Edwin M, Fingert John H
Primary Institution: The University of Iowa
Hypothesis
We hypothesized that molecules that mediate binding of leukocytes to the endothelium would be involved in the pathogenesis of AMD, and that variations in the genes that encode these adhesion molecules might be associated with the disease.
Conclusion
This genetic screen did not detect any SNPs that were highly associated with AMD affection status overall, but subtype analysis showed that a single SNP located within an intron of SELP (rs3917751) is statistically associated with dry AMD in our cohort.
Supporting Evidence
- High expression of all three selectin genes was observed in the choroid compared to the retina.
- One SNP in SELP (rs3917751) produced p-values < 0.05 in the genetic screen.
- Six SNPs produced p-values < 0.05 in the subtype analyses, but only one remained significant after Bonferroni correction.
Takeaway
The study looked at genes related to inflammation in the eye to see if they are linked to a common eye disease in older people. They found one gene that might be related to a specific type of the disease.
Methodology
The study examined the expression of selectin genes in human donor eyes and genotyped 34 SNPs in the SELE, SELL, and SELP genes in a cohort of AMD patients and controls.
Potential Biases
There may be bias in the selection of control subjects and the potential for unrecognized confounding factors.
Limitations
The study was limited by the number of SNPs evaluated and the potential for unaccounted rare mutations.
Participant Demographics
The study included 341 subjects with AMD and 400 control subjects, with AMD patients categorized into dry AMD, wet AMD, and geographic atrophy.
Statistical Information
P-Value
0.0029
Statistical Significance
p<0.05
Digital Object Identifier (DOI)
Want to read the original?
Access the complete publication on the publisher's website