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18 August 2016 : Laboratory Research  

Association of Genetic Variants in Pentraxin 3 Gene with Ankylosing Spondylitis

Xu ZhangABCDE, Wenyuan DingABCFG

DOI: 10.12659/MSM.896562

Med Sci Monit 2016; 22:2911-2916

Abstract

BACKGROUND: Pentraxin 3 is considered to play an important role in immune and inflammatory reaction. This study aimed to detect the effect of pentraxin3 gene (PTX3) polymorphisms on ankylosing spondylitis (AS) risk.

MATERIAL AND METHODS: The genotyping of PTX3 polymorphisms in 101 AS patients and 93 controls was conducted by allelic discrimination assay and the genotype distribution was assessed for Hardy-Weinberg equilibrium (HWE). The differences of genotype, allele, haplotype, and some basic indexes were compared by χ2 test. Odds ratio (OR) and 95% confidence interval (95%CI) were also calculated by χ2 test and were used to evaluate the association intensity between gene polymorphisms and disease. Haploview software was used to analyze the linkage disequilibrium (LD) and haplotypes of PTX3 polymorphisms.

RESULTS: CC genotype of rs3816527 had an obviously higher frequency in cases than in controls and had a positive effect on AS occurrence (OR=3.14, 95%CI=1.04–9.52), and the same was true of the C allele in rs3816527. For rs3845978, CT genotype showed a significant frequency difference between the case and control groups (P=0.03) and people with genotypes carrying the T allele developed AS earlier (OR=1.94, 95%CI=1.09–3.47), and the same was found in the analysis of the T allele. G-C-T haplotype dramatically increased the risk of AS, as may A-C-C haplotype.

CONCLUSIONS: In PTX3 polymorphisms rs3816527 and rs3845978 were found to be associated with AS, but rs2305619 was not.

Keywords: Asian Continental Ancestry Group - genetics, Alleles, Adolescent, C-Reactive Protein - metabolism, Case-Control Studies, Gene Frequency, Genetic Association Studies, Genetic Predisposition to Disease, genetic variation, Haplotypes, Linkage Disequilibrium, Odds Ratio, Polymorphism, Single Nucleotide, Serum Amyloid P-Component - metabolism, Spondylitis, Ankylosing - genetics

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Medical Science Monitor eISSN: 1643-3750
Medical Science Monitor eISSN: 1643-3750