Genetic Factors in Ankylosing Spondylitis
Author Information
Author(s): Wei James Cheng-Chung, Yen Jeng-Hsien, Juo Suh-Hang Hank, Chen Wei-Chiao, Wang Yu-Shiuan, Chiu Yi-Ching, Hsieh Tusty-Jiuan, Guo Yuh-Cherng, Huang Chun-Huang, Wong Ruey-Hong, Wang Hui-Po, Tsai Ke-Li, Wu Yang-Chang, Chang Hsueh-Wei, Hsi Edward, Chang Wei-Pin, Chang Wei-Chiao
Primary Institution: Chung Shan Medical University Hospital, Taiwan
Hypothesis
Is the ORAI1 gene a susceptibility factor for ankylosing spondylitis in a Taiwanese population?
Conclusion
The study found that certain haplotypes of the ORAI1 gene are associated with an increased risk of HLA-B27 positive ankylosing spondylitis.
Supporting Evidence
- Subjects with the CC genotype of rs12313273 had a 2.11-fold increased risk of AS.
- The C allele of rs712853 was associated with a lower AS risk.
- Pairwise analysis showed significant associations for C-G and T-T haplotypes with HLA-B27 positive AS.
Takeaway
This study looked at how certain genes might make people more likely to get a disease called ankylosing spondylitis, and found some important clues.
Methodology
A case-control study was conducted with 361 AS patients and 379 controls, analyzing genetic polymorphisms of the ORAI1 gene.
Limitations
The study had a small sample size for HLA-B27 negative patients, which may limit the statistical power.
Participant Demographics
The mean age of AS patients was 33.5 years, with 67.9% male, and 87.3% were HLA-B27 positive.
Statistical Information
P-Value
p=0.0003 for C-G haplotype, p<0.0001 for T-T haplotype
Confidence Interval
95% CI 1.27–2.25 for C-G, 95% CI 1.36–2.27 for T-T
Statistical Significance
p<0.05
Digital Object Identifier (DOI)
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