1 Department of Rheumatism and Immunology, Peking University Shenzhen Hospital, Shenzhen, Guangdong, PR China
2 Biomedical Research Institute, Shenzhen Peking University- The Hong Kong University of Science and Technology Medical Center, Guangdong Province, China
Genetics play a key role in ankylosing spondylitis (AS). A previous genome-wide association study (GWAS) showed that rs4552569 (on 5q14.3) and rs17095830 (on 12q12) were associated with the risk of AS in Han Chinese, which was not replicated in other two studies. In the current study, rs4552569 and rs17095830 were genotyped in 735 Han Chinese AS patients and 1204 healthy controls using high resolution melting analysis (HRMA). We compared the distributions of genotypes and alleles between AS cases and healthy controls. Rs30187 and rs10865331, which were reported to be associated with AS susceptibility in various populations, were also genotyped and analyzed as positive controls. The results showed that no association between rs4552569/rs17095830 polymorphisms and AS susceptibility was found. On the other hand, an association between rs17095830 and one of AS complication (inflammatory bowel disease) was observed (allelic P value=0.0180; odds ratio[OR]=1.739; 95% confidence interval [CI]=1.146-2.639).
Keywords: Ankylosing spondylitis, high resolution melting single nucleotide polymorphism, rs4552569, rs17095830.
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