Analysis Of Susceptibility To And Severity Of Ankylosing Spondylitis And ANO6, HAPLN1, EDIL3 In Chinese Han Population

Background: Susceptibility to and severity of ankylosing spondylitis(AS) are largely genetically determined. Recently, the Chinese scientists found some relationship between susceptibility to AS and ANO6, HAPLN1, EDIL3 using genome wide association study. Some other scientists tried to replicate this results in Taiwan population and failed. Genome wide association studies need replications due to high false positive rate. This three genes are not related to susceptibility to AS in Caucasian.Our purpose is to examine the influence of ANO6, HAPLN1, EDIL3 polymorphisms on the susceptibility to and the severity of ankylosing spondylitis in Chinese ethnic majority Han population.Methods: We collected 497 AS patients’ blood samples and 498 control. Thirteen tag single nucleotide polymorphisms(tag SNPs) in ANO6, HAPLN1, EDIL3 are selected and genotyped. Frequencies of different genotypes and alleles are analyzed among the different severity AS patients and the controls.Results: After Bonferroni correction, the rs4768085 SNP and rs11183000 SNP in ANO6 is related to susceptibility to AS. The rs11182965 SNP is related with severity of AS. The rs6869296 SNP in HAPLN1 is related to susceptibility to AS.The rs2301071 SNP in EDIL3 is related to susceptibility to AS. The rs4552569 SNP between HAPLN1 and EDIL3 is related with severity of AS.Conclusions: ANO6, HAPLN1, EDIL3 are related to susceptibility to AS. The rs11182965 in ANO6 and the rs4552569 SNP between HAPLN1 and EDIL3 are related to severity of AS in Chinese Han population.