SERPING1 Gene and Age-Related Macular Degeneration
Author Information
Author(s): Park Kyu Hyung, Ryu Euijung, Tosakulwong Nirubol, Wu Yanhong, Edwards Albert O.
Primary Institution: Mayo Clinic
Hypothesis
Is there an association between common genetic variation in the SERPING1 gene and age-related macular degeneration (AMD)?
Conclusion
The study found no evidence to support an association between SERPING1 and AMD in two independent groups of subjects.
Supporting Evidence
- No association was found between the seven tag-SNPs and AMD in the Mayo subjects.
- The SNP rs2511989 was not associated with AMD in either the Mayo or AREDS subjects.
- Haplotype analyses did not reveal any association with AMD.
Takeaway
The researchers looked at a gene called SERPING1 to see if it was linked to a common eye disease in older people, but they found no connection.
Methodology
The study genotyped seven SNPs in 786 Mayo Clinic subjects and 1,541 subjects from the Age-Related Eye Disease Study (AREDS) to assess their association with AMD.
Limitations
The study may have missed a valid association due to type II error or differences in population characteristics.
Participant Demographics
The Mayo subjects were 786 Caucasian individuals, while the AREDS subjects included 1,541 Caucasian individuals.
Statistical Information
P-Value
p=0.13–0.97 for SNPs; p=0.44–0.45 for rs2511989
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