IL-23R Polymorphisms in Patients with Ankylosing Spondylitis in Korea: Table 1.

2009 ◽  
Vol 36 (5) ◽  
pp. 1003-1005 ◽  
Author(s):  
IL-HOON SUNG ◽  
TAE-HWAN KIM ◽  
SO-YOUNG BANG ◽  
TAE-JONG KIM ◽  
BITNARA LEE ◽  
...  
Keyword(s):  
New York ◽  
Ankylosing Spondylitis ◽  
Single Nucleotide Polymorphisms ◽  
Gene Cluster ◽  
Healthy Controls ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Korean Patients ◽  
Caucasian Patients

Objective.IL23R polymorphisms have been shown to have a significant association with ankylosing spondylitis (AS). To date, these studies have been restricted to Caucasian patients with AS. Our study addresses this relationship in Korean patients with AS.Methods.A total of 451 patients with AS and 392 ethnically matched healthy controls were enrolled. All patients were native Koreans with AS satisfying the modified New York criteria. In total, 10 single nucleotide polymorphisms (SNP) within the IL-23R gene cluster were genotyped.Results.No IL-23R SNP were found to be associated with AS in Koreans.Conclusion.The association of IL23R and AS that is seen in Caucasian patients with AS is not present in Korean patients with AS.

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.

scholarly journals Association of Interleukin-10 gene polymorphisms with ankylosing spondylitis

2011 ◽  
Vol 34 (6) ◽  
pp. 370 ◽  
Author(s):  
Chengyu Lv ◽  
Yingzheng Wang ◽  
Jinqin Wang ◽  
Haining Zhang ◽  
Hao Xu ◽  
...  
Keyword(s):  
Ankylosing Spondylitis ◽  
Single Nucleotide Polymorphisms ◽  
Odds Ratio ◽  
Serum Levels ◽  
Interleukin 10 ◽  
Enzyme Linked Immunosorbent Assay ◽  
Snp Analysis ◽  
Healthy Controls ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide

Objective: Genetic polymorphisms of the Interleukin-10 (IL-10) promoter have been implicated in several autoimmune diseases, including seronegative spondyloarthropathies. This study investigated whether single nucleotide polymorphisms (SNPs) and haplotypes of IL-10 are associated with ankylosing spondylitis (AS), a common subtype of spondyloarthritis (SpA). Methods: The serum levels of IL-10 were measured with an enzyme-linked immunosorbent assay (ELISA). The single nucleotide polymorphisms (SNPs) at positions -1082A/G, -819C/T and -592C/A in the IL-10 gene promoter were analyzed using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Results: 110 AS patients and 120 ethnic-matched healthy controls were included in this study. The serum levels of IL-10 were significantly higher in AS patients than healthy controls (Z=-10.9, P < 0.001). Single SNP analysis showed no significant differences in the allelic and genotypic frequencies of -592A/C between the AS patients and healthy controls. No -1082GG genotype was found in this study. An increased frequency of -1082G allele was noted in AS patients (P=0.047). In a logistic regression analysis, the -1082AG genotype was associated with an odds ratio of 1.993 (95%CI, 1.046-3.800, P=0.034) for AS. And the -819CC genotype was associated with an odds ratio of 3.125 (95%CI, 1.246-7.836, P=0.015) for AS. Furthermore, haplotype analysis revealed that GCC haplotype was associated with a significantly increased risk of AS as compared with the ATA haplotype (OR=2.19; 95% CI, 1.13-4.26; P=0.02). Conclusion: Our results indicate that the gene haplotype of IL-10 can contribute to the susceptibility to AS in a Chinese population.

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.

scholarly journals Single Nucleotide Polymorphisms of Indoleamine 2,3-Dioxygenase 1 Influenced the Age Onset of Parkinson’s Disease

2020 ◽  
Author(s):  
Nóra Török ◽  
Rita Maszlag-Török ◽  
Kinga Molnár ◽  
Zoltán Szolnoki ◽  
Ferenc Somogyvári ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Subgroup Analysis ◽  
Snp Analysis ◽  
Healthy Controls ◽  
Nucleotide Polymorphisms ◽  
Allelic Discrimination Assay ◽  
Allelic Discrimination ◽  
Single Nucleotide ◽  
Indoleamine 2,3 Dioxygenase ◽  
Tryptophan Dioxygenase

Earlier studies reported alterations of the kynurenine (KYN) pathway of tryptophan (TRP) metabolism in Parkinson&rsquo;s disease (PD). The first rate-limiting enzymes indoleamine 2,3-dioxygenase (IDO) and tryptophan dioxygenase were observed upregulated, resulting elevated KYN/TRP ratios in the serum and cerebrospinal fluid samples of patients with PD. An increasing number of single nucleotide polymorphisms (SNPs) have been identified in a population of PD. However, little is known if genetic variations of the IDO contribute to disturbance of the KYN metabolism in and the pathogenesis of PD. SNP analysis of IDO1 was performed by allelic discrimination assay with fluorescently labelled TaqMan probes and a subgroup analysis was conducted according to the age of PD onset. The frame shifts variant rs34155785, intronic variant rs7820268, and promotor region variant rs9657182 SNPs of 105 PD patients without comorbidity were analyzed and compared to 129 healthy controls. No significant correlation was found in three SNPs between PD patients and healthy controls. However, the subgroup analysis revealed that A alleles of rs7820268 SNP or rs9657182 SNP carriers contribute to later onset of PD than non-carriers. The study suggested that SNPs of IDO1 influenced the age onset of PD and genotyping of SNPs in certain alleles potentially serves as a risk biomarker of PD.

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