Association Study of Polymorphisms rs4552569 and rs17095830 and the Risk of Ankylosing Spondylitis in a Taiwanese Population.docVIP

AssociationStudyofPolymorphismsrs4552569and rndtheRiskofAnkylosingSpondylitisina TaiwanesePopulation JamesCheng-ChungWei1,2,Yu-WenHsu3,Kuo-ShengHung4,Ruey-HongWong5,Chun-HuangHuang5, Yi-TzuLiu3,Yuh-CherngGuo6,ShiroIkegawa7,Wei-ChiaoChang3,8* 1DivisionofAllergy,ImmunologyandRheumatology,DepartmentofMedicine,ChungShanMedicalUniversityHospital,Taichung,Taiwan,2InstituteofMedicine,Chung Shan Medical University, Taichung, Taiwan, 3Department of Clinical Pharmacy, School of Pharmacy, Taipei Medical University, Taipei, Taiwan, 4Department of Neurosurgery,CenterofExcellenceforClinicalTrialandResearch,GraduateInstituteofInjuryPreventionandControl,TaipeiMedicalUniversity,WanFangMedicalCenter, Taipei,Taiwan,5DepartmentofPublicHealth,ChungShanMedicalUniversity,Taichung,Taiwan,6DepartmentofNeurology,ChanghuaChristianHospital,Changhua, Taiwan, 7Laboratory for Bone and Joint Diseases, Center for Genomic Medicine, RIKEN, Tokyo, Japan, 8Department of Pharmacy, Taipei Medical University-Wanfang Hospital,Taipei,Taiwan Abstract Ankylosing spondylitis (AS) is a chronic inflammation of the sacroiliac joints, spine and peripheral joints. However, the developmentofanklosingspondylitisisunclear.HumanleukocyteantigensHLA-B27andERAP1havebeenwidelyreported to be associated with AS susceptibility. A recent genome-wide association study (GWAS) showed that two new susceptibilitylocibetweenEDIL3andHAPLN1at5q14.3(rs4552569)andwithinANO6at12q12(rcontributeto theriskofASinHanChinese.Inthisstudy,weenrolled475ASpatientsand475healthysubjectstoassesswhetherthese genetic variations contribute to the susceptibility and the severity of AS in the Taiwanese population. The correlation betweengeneticpolymorphisms,ASactivityindexes,(namely,BASDAI,BASFIandBAS-G)andAScomplications(uveitisand inflammatoryboweldisease)weretestedusingthemarkers,rs4552569andrAlthoughnoassociationbetween rs4552569/reneticpolymorphismsandASsusceptibility/severitywasfound,asignificantassociation