Analysis of ANO6, HAPLN1 and EDIL3 Polymorphisms in Patients with Ankylosing Spondylitis in a Chinese Han Population: A Case-Control Study

Abstract Background: Earlier research has shown a genetic basis for the susceptibility to ankylosing spondylitis (AS) and the severity of AS. By employing a genome-wide association study, recent research has established a correlation between the susceptibility to AS and the ANO6, HAPLN , EDIL3 genes in a western study population, although alternative studies have not corroborated these findings. This study aims to examine the effects of ANO6, HAPLN1 and EDIL3 polymorphisms on the susceptibility to AS ,and as well as the severity of AS among the predominantly Chinese Han population. Methods: The study involved the collection of blood samples from 497 Patients with AS and 498 non-related healthy individuals. All participants in the study are of Han Chinese descent and whose HLA-B27 are positive. The intensity of the illness served as a criterion for classifying patients with AS. 13 tagSNPs in ANO6, HAPLN1 and EDIL3 were chosen and then subjected to genetic typing. Analysis was conducted on the occurrence rates of various genotypes and alleles between patients with varying severity of AS and the control group. Results: Following Bonferroni correction, the rs4768085 and rs17095830 SNPs in ANO6 are related to the susceptibility to AS. The rs6869296 SNP in HAPLN1 is associated with the AS susceptibility, the rs2301071 SNP between EDIL3 and HAPLN1 is related to the susceptibility to AS. The rs4768085, rs2897868, rs7965430 and rs11182965 SNPs in ANO6are related to the severity of AS. Conclusions: The ANO6,HAPLN1 genes are related to the susceptibility to AS. The ANO6 gene is also associated with the severity of AS among the Han population in China.