Abstract
This study was conducted to clarify the associations of tumor necrosis factor-α induced protein 3 (TNFAIP3) and TNFAIP3-interacting protein 1 (TNIP1) genetic polymorphisms with ankylosing spondylitis (AS) susceptibility. Five single nucleotide polymorphisms (SNPs) in TNFAIP3 gene and four in TNIP1 gene were genotyped in 667 AS patients and 667 matched healthy controls. Genotypes and haplotype analysis were conducted by using SPSS 23.0 and Haploview 4.2 software. The T allele and CT genotype in TNFAIP3 rs10499194 were significantly associated with a reduced AS risk (T allele vs. C allele, OR = 0.619, 95% CI = 0.430–0.889, P = 0.009; CT vs. CC, OR = 0.603, 95% CI = 0.416–0.875, P = 0.007). However, no association remained significant after Bonferroni correction. The rs13207033A- rs10499194T haplotype of TNFAIP3 conferred a protective effect on AS susceptibility. Stratification analyses suggested that rs10499194 polymorphism decreased the risk of AS in the male subgroup, subgroup aged ≥ 29, HLA-B27 positive subgroup as well as the subgroups of BASFI < 4 and BASDAI < 4 (all P < 0.05). Furthermore, the functional annotation suggested a potential function of rs10499194 mutation. Our results demonstrated that TNFAIP3 rs10499194 polymorphism may be associated with a reduced risk of AS.
Highlights
Ankylosing spondylitis (AS), as a chronic inflammatory autoimmune disease, mainly involves axial skeleton and sacroiliac joints, resulting in impairments of structure and function[1,2]
Numerous researches have revealed that TNFAIP3 or TNFAIP3-interacting protein 1 (TNIP1) gene polymorphisms were associated with susceptibility to some autoimmune inflammatory diseases including systemic lupus erythematous (SLE), systemic sclerosis (SSc), rheumatoid arthritis (RA) and psoriasis[17,18,19,20,21]
The results indicated that the minor T allele and CT genotype of TNFAIP3 rs10499194 were associated with the decreased ankylosing spondylitis (AS) susceptibility
Summary
Ankylosing spondylitis (AS), as a chronic inflammatory autoimmune disease, mainly involves axial skeleton and sacroiliac joints, resulting in impairments of structure and function[1,2]. Numerous researches have revealed that TNFAIP3 or TNIP1 gene polymorphisms were associated with susceptibility to some autoimmune inflammatory diseases including systemic lupus erythematous (SLE), systemic sclerosis (SSc), rheumatoid arthritis (RA) and psoriasis[17,18,19,20,21]. There is hardly any study about investigating the associations between single nucleotide polymorphisms (SNPs) from TNFAIP3 and TNIP1 genes and AS risk. We implemented this case-control study to determine the relationships of five TNFAIP3 polymorphisms (rs610604, rs10499194, rs13207033, rs2230926 and rs6920220) and four TNIP1 polymorphisms (rs2233287, rs3792783, rs4958881 and rs6889239) with AS susceptibility
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