| Objective The aim of this study was to investigate whether TESPA1genepolymorphism was associated with increased risk of developing ankylosingspondylitis. We discussed associations between TESPA1gene polymorphism andsusceptibility to ankylosing spondylitis, and the severities of disease. We also studiedTESPA1gene interacts with environmental factors in the disease so as to provide areference basis for the etiology exploration of ankylosing spondylitis.Methods Selected494cases in Department of Rheumatology and immunity (the firstaffiliated hospital of Anhui medical university) from2009to2013for the AS patientsgroup. With the principle of age and gender matched,478controls in Hefei centerblood stations were chose for a control, all subjects were from Chinese Hanpopulations. We collect epidemiological data of AS patients, including the generaldemographic characteristics (age, gender, occupation, etc.), environmental exposurefactors (smoking, drinking, sleeping, etc.), VAS pain index, BASDAI index andBASFI index. Acquisition of cases and controls the peripheral venous blood of5ml,and extracted DNA of the entire subjects. All the subjects were genotyped for fourSNPs (rs1801876, rs2171497, rs4758994and rs997173) in the TESPA1gene andiMLDR was used for genotyping. We used Epidata3.1to double entry and errordetection, and SPSS13.0software to analyze data. The statistical significance levelwas set at P<0.05. The case-only study was used to analyze gene-environmentinteraction. Results These four SNPs in the TESPA1gene were not significantly associated withrisk of AS (P>0.05). Three polymorphisms (rs1801876, rs2171497, rs997173) werein strong linkage disequilibrium and were included in three haplotypes: H1(AGC),H2(AGT), and H3(GCC). Furthermore, no haplotype was found to be associatedwith AS. VAS night pain analysis showed that sex may be regarded as influencefactors of AS. Using t test, we found that subjects in rs1801876locus with GGgenotype has significantly increased BASFI scores compared to those with the AAgenotype (4.03±1.23vs3.29±1.81, P<0.001). In locus rs2171497, patients with theTESPA1CC genotype had significantly increased BASFI scores compared to thosewith the GG genotype (4.03±1.23vs3.29±1.81, P<0.001). At locus rs997173,patients with the TT genotype had significantly increased chest expansion assessmentscores compared to those with the CC genotype (5.34±4.27vs4.33±1.38, P=0.004),Patients with the TESPA1CT genotype had significantly reduced BASDAI scorescompared to those with the TT genotype (3.41±1.77vs3.91±2.04, P=0.007). Asignificant interaction of G×E between TESPA1gene and high noise was found (P<0.05).Conclusions These findings indicated that the TESPA1gene is not involved in ASgenetic predisposition in the Han Chinese population. The TESPA1polymorphismsmay play an important role in the severity of AS in the Chinese Han population.According to our study, sex may be regarded as influence factors of AS. Thedifference of females than males has statistical significance. The study ofgene-environment interaction indicated that there was an interaction of noise withTESPA1gene, at the time of mutation, avoiding noise can reduce the risk of AS. |