Association Mapping of Susceptibility Loci for Rheumatoid Arthritis
Author Information
Author(s): Kuo Tai-Yue, Lau Winston, Hu Cheng, Zhang Weihua
Primary Institution: Human Genetics Division, Southampton General Hospital, UK
Hypothesis
Can we identify susceptibility loci for rheumatoid arthritis on chromosome 18q?
Conclusion
A significant association was found between a region of chromosome 18q and rheumatoid arthritis, with a protective haplotype identified.
Supporting Evidence
- A total of 460 cases and 460 controls were genotyped on 2300 SNPs.
- A region at 53,306 kb showed significant association with RA (p < 0.002).
- A common haplotype in this region was protective against RA (p = 0.002).
- Another region at 51,585 kb showed nominal significant association (p = 0.037).
- Reducing SNP density decreased power and accuracy of association mapping.
Takeaway
Researchers looked at DNA from people with and without rheumatoid arthritis to find parts of their genes that might protect against the disease.
Methodology
The study used a case-control design with genotyping of 2300 SNPs in 460 cases and 460 controls, applying a multimarker approach for association mapping.
Limitations
The study's findings may not be generalizable due to the specific population sampled and the potential for multiple testing issues.
Participant Demographics
Participants included 460 cases of rheumatoid arthritis and 460 controls from a New York City population.
Statistical Information
P-Value
0.002
Confidence Interval
53,295–53,331 kb
Statistical Significance
p < 0.002
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