Abstract
Objective To investigate the role of eight locus polymorphisms of tumor necrosis factor receptor-associated factor 2 (TRAF2) and TRAF5 gene and their interaction in the susceptibility to ankylosing spondylitis (AS) in Chinese Han population. Methods Eight single nucleotide polymorphisms (SNPs) of TRAF2 (rs3750511, rs10781522, rs17250673, rs59471504) and TRAF5 (rs6540679, rs12569232, rs4951523, rs7514863) gene were genotyped in 673 AS patients and 687 controls. Results The SNPs of TRAF2 and TRAF5 do not indicate a correlation with the susceptibility of AS in Chinese Han population. Genotype frequencies of rs3750511 were statistically significant in females between patients and controls. The allele frequencies of rs10781522 and genotype frequencies of rs3750511 were statistically significant between groups of different diseases activity. One three-locus model, TRAF2 (rs10781522, rs17250673) and TRAF5 (rs12569232), had a maximum testing accuracy of 52.67% and a maximum cross-validation consistency (10/10) that was significant at the level of P = 0.0001, after determined empirically by permutation testing. As to environmental variables, only marginal association was found between sleep quality and AS susceptibility. Conclusion TRAF2 rs3750511 polymorphism may be associated with the susceptibility and severity of AS. Besides, the interaction of TRAF2 and TRAF5 genes may be associated with AS susceptibility, but many open questions remain.
Highlights
Ankylosing spondylitis (AS) is a chronic inflammatory autoimmune disease, which first affects the sacroiliac joints and the spinal osteoid process joint [1, 2]
The Single nucleotide polymorphism (SNP) of tumor necrosis factor receptor associated factor 2 (TRAF2) and TRAF5 does not indicate a correlation with the susceptibility of AS in Chinese Han population
One three-locus model, TRAF2 and TRAF5, had a maximum testing accuracy of 52.67% and a maximum crossvalidation consistency (10/10) that was significant at the level of P=0.0001, after determined empirically by permutation testing
Summary
Ankylosing spondylitis (AS) is a chronic inflammatory autoimmune disease, which first affects the sacroiliac joints and the spinal osteoid process joint [1, 2]. AS has insidious onset, slow progression and high disability rate, which seriously affects the working ability of the patients and increases the social burden [4]. Biological agents such as tumor necrosis factor-α (TNF-α) inhibitors are the best choice for the treatment of ankylosing spondylitis, which has good therapeutic effect and can effectively slow the disease progression, but the cost is relatively high. A large number of studies have shown that the occurrence of the disease is closely related to the human leukocyte antigen (HLA) region gene represented by the HLA-B27 gene [8, 9], and 90% of AS patients are HLA-B27 gene positive [10]. The twin study has found that HLA-B27 can only explain 20% of the genetic susceptibility to AS [11], suggesting that there may be other factors involved in the incidence of AS
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