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Abstract
Many susceptibility genes of inflammatory bowel disease (IBD) are associated with ankylosing spondylitis (AS). Fucosyltransferase 2 (FUT2) and FUT3 genes are related to IBD. This study aimed to investigate whether these genes correlated with the susceptibility to AS. Questionnaires of 673 patients with AS, and peripheral blood specimens of the patients and 687 healthy controls were collected. FUT2 and FUT3 genes were genotyped using the SNPscan method. Frequency differences of the genes at different levels, haplotypes, and interactions were analyzed. No frequency differences were found between the cases and the controls in all the genotypes and the alleles of rs1047781, rs1800028, rs1800030, and rs812936. For rs28362459, a significant difference in allele frequencies was observed in the total participants between the groups [χ2 = 7.515, Pcorrected = 0.030; adjusted odds ratio (ORadjusted)G/T = 0.782; 95% confidence interval (CI), 0.650–0.941]. The frequencies of haplotypes TT (rs812936–rs28362459) (χ2 = 5.663, Ppermutation = 0.039) and TG (rs812936–rs28362459) (χ2 = 7.456, Ppermutation = 0.013) in the total participants, and TG (rs812936–rs28362459) in the female subgroup (χ2 = 5.624, Ppermutation = 0.047) showed significant differences between the cases and the controls. No frequency differences at the phenotypic level were found. Two-factor interactions were observed between rs28362459-TG and age, rs28362459-TG and sex, rs28362459 and rs1047781, and the Lewis and secretor status. Rs28362459-G was related to some aggravated symptoms of AS (all Pcorrected < 0.05). These findings indicated that FUT3 polymorphisms were associated with human predisposition to AS at the allele and haplotype level. Rs28362459-G might decrease the susceptibility to AS, but aggravate relevant symptoms.
Highlights
Ankylosing spondylitis (AS) is a serum-negative connective tissue disease characterized by back pain and rigidity
Raw data of genotyping outcomes were partly provided in S1 Fig, and main lifestyles and clinical characteristics of the patients with AS were listed in S1 Table
No significant differences were observed between the remaining factors and clinical variables. These results indicated that the polymorphisms of Fucosyltransferase 2 (FUT2) and FUT3 were likely to be associated with the symptoms of AS, and rs28362459-G might aggravate relevant symptoms
Summary
Ankylosing spondylitis (AS) is a serum-negative connective tissue disease characterized by back pain and rigidity. At least 36 susceptibility genes of AS have been found so far [1], among which human leukocyte antigen B27 (HLA-B27) has the closest association with the disease [2, 3], especially HLA-B 2705, HLA-B 2706 and HLA-B 2709 are not related to AS [4,5,6]. These genes can explain only 24.4% of the genetic predisposition toward AS, with HLA-B 27 accounting for 20.1% and the remaining genes for 4.3%. This indicates that more than 75% of AS genetic susceptibility has yet to be found [1, 2, 7]
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