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Association of Genetic Variants in Pentraxin 3 Gene with Ankylosing Spondylitis.

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 ?2 test. Odds ratio (OR) and 95% confidence interval (95%CI) were also calculated by ?2 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.

SUBMITTER: Zhang X

PROVIDER: S-EPMC4999015 | biostudies-literature | 2016 Aug

REPOSITORIES: biostudies-literature

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Association of Genetic Variants in Pentraxin 3 Gene with Ankylosing Spondylitis.

Zhang Xu X Ding Wenyuan W

Medical science monitor : international medical journal of experimental and clinical research 20160818

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 in ...[more]

PMID: 27538101

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Project description:Ankylosing spondylitis (AS) is a common inflammatory arthritic condition. Overt inflammatory bowel disease (IBD) occurs in about 10% of AS patients, and in addition 70% of AS cases may have subclinical terminal ileitis. Spondyloarthritis is also common in IBD patients. We therefore tested Crohn's disease susceptibility genes for association with AS, aiming to identify pleiotropic genetic associations with both diseases. Genotyping was carried out using Sequenom and Applied Biosystems TaqMan and OpenArray technologies on 53 markers selected from 30 Crohn's disease associated genomic regions. We tested genotypes in a population of unrelated individual cases (n = 2,773) and controls (n = 2,215) of white European ancestry for association with AS. Statistical analysis was carried out using a Cochran-Armitage test for trend in PLINK. Strong association was detected at chr1q32 near KIF21B (rs11584383, P = 1.6 × 10(-10), odds ratio (OR)?= 0.74, 95% CI:0.68-0.82). Association with disease was also detected for 2 variants within STAT3 (rs6503695, P = 4.6 × 10(-4). OR = 0.86 (95% CI:0.79-0.93); rs744166, P = 2.6 × 10(-5), OR = 0.84 (95% CI:0.77-0.91)). Association was confirmed for IL23R (rs11465804, P = 1.2 × 10(-5), OR = 0.65 (95% CI:0.54-0.79)), and further associations were detected for IL12B (rs10045431, P = 5.2 × 10(-5), OR = 0.83 (95% CI:0.76-0.91)), CDKAL1 (rs6908425, P = 1.1 × 10(-4), OR = 0.82 (95% CI:0.74-0.91)), LRRK2/MUC19 (rs11175593, P = 9.9 × 10(-5), OR = 1.92 (95% CI: 1.38-2.67)), and chr13q14 (rs3764147, P =?5.9 × 10(-4), OR = 1.19 (95% CI: 1.08-1.31)). Excluding cases with clinical IBD did not significantly affect these findings. This study identifies chr1q32 and STAT3 as ankylosing spondylitis susceptibility loci. It also further confirms association for IL23R and detects suggestive association with another 4 loci. STAT3 is a key signaling molecule within the Th17 lymphocyte differentiation pathway and further enhances the case for a major role of this T-lymphocyte subset in ankylosing spondylitis. Finally these findings suggest common aetiopathogenic pathways for AS and Crohn's disease and further highlight the involvement of common risk variants across multiple diseases.

Dataset Information

Association of Genetic Variants in Pentraxin 3 Gene with Ankylosing Spondylitis.

Publications

Association of Genetic Variants in Pentraxin 3 Gene with Ankylosing Spondylitis.

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