A proposed HLA-B*27 screening method for ankylosing spondylitis detection based on tag-single nucleotide polymorphisms: a preliminary study

2021 ◽  
Author(s):  
Gabriela Angélica Martínez-Nava ◽  
Yessica Zamudio-Cuevas ◽  
Ninoska Aleida Terrazas-Ontiveros ◽  
Karina Martínez-Flores ◽  
Rolando Espinosa-Morales ◽  
...  
Keyword(s):  
Ankylosing Spondylitis ◽  
Single Nucleotide Polymorphisms ◽  
Screening Method ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Preliminary Study

Single Nucleotide Polymorphisms of TRAF2 and TRAF5 Gene in Ankylosing Spondylitis: A Case-Control Study

2021 ◽  
Author(s):  
Shanshan Xu ◽  
Jiangping Kong ◽  
Li Huang ◽  
Huimin Xie ◽  
Feier Wang ◽  
...  
Keyword(s):  
Ankylosing Spondylitis ◽  
Single Nucleotide Polymorphisms ◽  
Tumor Necrosis Factor Receptor ◽  
Nucleotide Polymorphisms ◽  
Permutation Testing ◽  
Chinese Han ◽  
Single Nucleotide ◽  
Open Questions ◽  
Genotype Frequencies ◽  
Marginal Association

Abstract ObjectiveTo 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.MethodsEight single nucleotide polymorphisms (SNPs) (rs3750511, rs10781522, rs17250673, rs59471504, rs6540679, rs12569232, rs4951523, rs7514863) of TRAF2 and TRAF5 gene were genotyped in 673 AS patients and 687 controls.ResultsThe SNPs of TRAF2 and TRAF5 does not indicate a correlation with the susceptibility of AS in Chinese Han population. Genotype frequencies of rs3750511were statistically significant in females between patients and controls. The genotype frequencies of rs12569232 and allele frequencies of rs3750511were 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.ConclusionTRAF2 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.

Single-nucleotide polymorphisms and expression of IL23R in Chinese ankylosing spondylitis patients

2009 ◽  
Vol 30 (7) ◽  
pp. 955-959 ◽  
Author(s):  
Xinwei Wang ◽  
Jinxian Huang ◽  
Zhiming Lin ◽  
Zetao Liao ◽  
Chao Li ◽  
...  
Keyword(s):  
Ankylosing Spondylitis ◽  
Single Nucleotide Polymorphisms ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide

ARTS1 polymorphisms are associated with ankylosing spondylitis in Koreans

2009 ◽  
Vol 69 (3) ◽  
pp. 582-584 ◽  
Author(s):  
Chan-Bum Choi ◽  
Tae-Hwan Kim ◽  
Jae-Bum Jun ◽  
Hye-Soon Lee ◽  
Seung Cheol Shim ◽  
...  
Keyword(s):  
New York ◽  
Ankylosing Spondylitis ◽  
Single Nucleotide Polymorphisms ◽  
Genetic Polymorphisms ◽  
Caucasian Population ◽  
Healthy Controls ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Pathogenetic Mechanisms ◽  
Caucasian Patients

ObjectiveTo test the association between ARTS1 polymorphisms and Koreans with ankylosing spondylitis (AS).MethodsAll patients and controls were Korean. 872 patients with AS fulfilling the modified New York criteria and 403 healthy controls were genotyped for five single nucleotide polymorphisms (SNPs), rs27044, rs17482078, rs10050860, rs30107 and rs2287987, known to be associated with AS in Caucasians.ResultsSNPs rs27044 (p=9.37 × 10−7) and rs30187 (p=7.16 × 10−6) of ARTS1 were significantly associated with AS in Koreans. There was no significant association for rs17482078, rs10050860 and rs2287987. Two four-marker haplotypes were found to be associated with AS (GCCT: p=4.71×10−7, CCCC: p=8.56×10−6).ConclusionsThis is first confirmation in a non-Caucasian population that genetic polymorphisms in ARTS1 are associated with AS, implicating common pathogenetic mechanisms in Korean and Caucasian patients with AS.

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