Determination of genetic susceptibility to ankylosing spondylitis disease by mass spectroscopy in our society

Ankylosing spondylitis (AS) is a systemic, chronic and inflammatory disease in which the spine and peripheral joints are sore and causes restriction of movement particularly in axial joints. Many genetic, environmental and immunological factors have roles in the development of the disease. Prevalence of AS, which causes work force loss and decreases in life quality, is %0,15 - 0,49. Single nucleotide polymorphisms (SNP) are single base changes frequently observed in human genome and they are important molecular indicators used for disease susceptibility, development of disease, medicine response and disease diagnosis. In studies carried out on different societies, disease risk and some SNPs are associated. Research on these SNPs will make contributions to early diagnosis of the disease before the spine deformation occurs. In this study, association of a total of 21 SNPs with AS disease risk were evaluated at genotype and allele level. Target SNPs were located at 7 different gene loci and 3 intergenic loci and all were associated with AS in different populations. Study was conducted on 101 controls and 100 patients using iPlex® method. Data obtained in the study were evaluated using Chi-square, Fischer's exact test and logistic regression analysis (p≤0.5, OR>1). For the first time in our population, it was demonstrated that the rs7743761 polymorphism located between HLA-S and DHFR2 pseudogene loci on 6th chromosome was associated with AS disease risk at the allele (p=0.002, OR=1.90 %95CI=1.26-2.87 for A allele) and genotype (p<0.0001, OR=4.93 %95CI=2.437-9.986 for CA genotype) levels. Contributions of certain clinical and demographic variants to the disease status were also analyzed in the study using chi-square and Fischer's exact test; it was determined that rheumatic disease history (p=0.003), AS disease case (p<0.001), lumbar disc herniation disease history in the family (p<0.001) and gender (p=0.001) variants were associated with AS. It was also determined that; rheumatic disease history in family was associated with rs868213 polymorphism (p=0.037) and lumbar disc herniation disease history in family was associated with rs1004819 (p=0.032), rs10889677 (p=0.017) and rs11465804 (p=0.043) polymorphisms. When SNP genotypes and clinical-demographic variants were analyzed in terms of disease risk using logistic regression analysis; it was demonstrated that rs7743761 polymorphism (p=0.003, OR=3.493 %95GA=1.534-7.955), lumbar disc herniation disease story in family (p<0.001, OR=4.710 %95CI=2.047-10.834) and AS disease case in family (p<0.001, OR=53.752 %95CI=6.916-417.767) and gender (p=0.007, OR=2.671 %95CI=1.309-5.451) variants were associated with the disease risk. As a result; for the first time in our population, rs7743761 polymorphism was found to be associated with the disease risc. Contributions of gender, lumbar disc herniation and AS events in the family to the disease risk were demonstrated. It was determined that there is a potential to use all these informations to develop biomarkers.