Using SNPs in Conserved Sequences to Find Disease Genes
Author Information
Author(s): Jacob L. McCauley, Shannon J. Kenealy, Elliott H. Margulies, Nathalie Schnetz-Boutaud, Simon G. Gregory, Stephen L. Hauser, Jorge R. Oksenberg, Margaret A. Pericak-Vance, Jonathan L. Haines, Douglas P. Mortlock
Primary Institution: Vanderbilt University Medical Center
Hypothesis
Can SNPs located in multi-species conserved sequences (MCS) be effectively used as markers in association studies for complex diseases?
Conclusion
The study demonstrates that MCS can be used to prioritize SNP markers for association studies, aiding in the search for genes linked to complex diseases.
Supporting Evidence
- MCS-SNPs were frequently polymorphic and showed signs of selective pressure.
- The study provides an online tool for identifying MCS-SNPs in genomic regions.
- MCS analysis can help prioritize SNPs for genotyping in complex disease studies.
Takeaway
Researchers found that certain genetic markers are more likely to be important for diseases because they are found in parts of DNA that have stayed the same across different species.
Methodology
The study involved genotyping 768 SNPs in a dataset of 173 multiple sclerosis families, focusing on SNPs located in multi-species conserved sequences.
Potential Biases
Selection bias may have occurred due to the preferential selection of SNPs based on prior validation status.
Limitations
The study's findings may not be generalizable beyond the specific genomic regions and populations studied.
Participant Demographics
The study involved 173 families with a total of 989 individuals, primarily of U.S. Caucasian descent.
Digital Object Identifier (DOI)
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