Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs2069837
rs2069837
CUI: C0039263
Disease: Takayasu Arteritis
Takayasu Arteritis
0.720 GeneticVariation BEFREE Previous work has revealed a genetic association between Takayasu arteritis and a non-coding genetic variant in an enhancer region within <i>IL6</i> (rs2069837 A/G). 31315839

2019

dbSNP: rs2069837
rs2069837
CUI: C0039263
Disease: Takayasu Arteritis
Takayasu Arteritis
0.720 GeneticVariation BEFREE We identified genetic susceptibility loci for Takayasu arteritis with a genome-wide level of significance in IL6 (rs2069837) (odds ratio [OR] 2.07, P = 6.70 × 10(-9)), RPS9/LILRB3 (rs11666543) (OR 1.65, P = 2.34 × 10(-8)), and an intergenic locus on chromosome 21q22 (rs2836878) (OR 1.79, P = 3.62 × 10(-10)). 25604533

2015

dbSNP: rs12524487
rs12524487
CUI: C0039263
Disease: Takayasu Arteritis
Takayasu Arteritis
0.720 GeneticVariation BEFREE Four single nucleotide polymorphisms (SNPs) those locate in the IL12B region (rs56167332), the MLX region (rs665268), the FCGR2A/FCGR3A locus (rs10919543), and the HLA-B/MICA locus (rs12524487), associated with TA in different population, were genotyped in 123 Chinese TA patients and 147 healthy controls from January 2013 to August 2014. 26996483

2016

dbSNP: rs12524487
rs12524487
CUI: C0039263
Disease: Takayasu Arteritis
Takayasu Arteritis
0.720 GeneticVariation BEFREE Our findings indicated that rs12524487 in HLA-B/MICA was a genetic risk factor for TA in a Chinese Han population and rs9366782 in this region was associated with ischemic brain disease in TA but not TA susceptibility. 28261975

2018

dbSNP: rs10919543
rs10919543
CUI: C0039263
Disease: Takayasu Arteritis
Takayasu Arteritis
0.720 GeneticVariation BEFREE Among the four SNPs, rs10919543 was found to be significantly associated with TA in the studied population. 26996483

2016

dbSNP: rs10919543
rs10919543
CUI: C0039263
Disease: Takayasu Arteritis
Takayasu Arteritis
0.720 GeneticVariation BEFREE In addition, we identified and confirmed a genetic association between Takayasu arteritis and the FCGR2A/FCGR3A locus on chromosome 1 (rs10919543, OR = 1.81, p = 5.89 × 10(-12)). 23830517

2013

dbSNP: rs2099684
rs2099684
CUI: C0039263
Disease: Takayasu Arteritis
Takayasu Arteritis
0.710 GeneticVariation BEFREE The allele and genotype distributions for the other polymorphisms were not significantly associated with TA among the Han Chinese patients.The SNP rs2099684 in FCGR2A/FCGR3A can be considered a genetic risk factor for TA in the Chinese Han population. 27769046

2017

dbSNP: rs11666543
rs11666543
CUI: C0039263
Disease: Takayasu Arteritis
Takayasu Arteritis
0.710 GeneticVariation BEFREE We identified genetic susceptibility loci for Takayasu arteritis with a genome-wide level of significance in IL6 (rs2069837) (odds ratio [OR] 2.07, P = 6.70 × 10(-9)), RPS9/LILRB3 (rs11666543) (OR 1.65, P = 2.34 × 10(-8)), and an intergenic locus on chromosome 21q22 (rs2836878) (OR 1.79, P = 3.62 × 10(-10)). 25604533

2015

dbSNP: rs6871626
rs6871626
CUI: C0039263
Disease: Takayasu Arteritis
Takayasu Arteritis
0.050 GeneticVariation BEFREE A previous study revealed the association between susceptibility to Takayasu arteritis (TAK) and a single nucleotide polymorphism (SNP) rs6871626 located in IL12B, which encodes interleukin (IL)-12p40, a common component of IL-12p70 and IL-23. 28874185

2017

dbSNP: rs6871626
rs6871626
CUI: C0039263
Disease: Takayasu Arteritis
Takayasu Arteritis
0.050 GeneticVariation BEFREE Thus, our study points to potential diagnostic use of SNP rs6871626 for predicting disease severity of TAK, with the goal of genotyping-oriented therapy in the near future. 25783557

2016

dbSNP: rs6871626
rs6871626
CUI: C0039263
Disease: Takayasu Arteritis
Takayasu Arteritis
0.050 GeneticVariation BEFREE We also found that rs6871626 showed a significant association with clinical manifestations of TAK, including increased risk and severity of aortic regurgitation, a representative severe complication of TAK. 23830516

2013

dbSNP: rs6871626
rs6871626
CUI: C0039263
Disease: Takayasu Arteritis
Takayasu Arteritis
0.050 GeneticVariation BEFREE IL12B rs6871626 did not show an association with IBD-TA compared with that with TA without IBD. 28449344

2017

dbSNP: rs6871626
rs6871626
CUI: C0039263
Disease: Takayasu Arteritis
Takayasu Arteritis
0.050 GeneticVariation BEFREE We demonstrated a allele association between the four SNPs of IL12B and TA (rs6871626: OR 1.52, 95% CI 1.26-1.83; rs4921492: OR 1.46, 95% CI 1.21-1.75; rs60689680: OR 1.41, 95% CI 1.17-1.69; rs4921493: OR 1.45, 95% CI 1.21-1.75, all P <sub>c</sub>  < 10<sup>- 3</sup> ). 28160070

2017

dbSNP: rs665268
rs665268
MLX
CUI: C0039263
Disease: Takayasu Arteritis
Takayasu Arteritis
0.020 GeneticVariation BEFREE MLX-Q139R mutation plays a crucial role in the pathogenesis of TAK through promoting inflammasome formation. 30354298

2018

dbSNP: rs665268
rs665268
MLX
CUI: C0039263
Disease: Takayasu Arteritis
Takayasu Arteritis
0.020 GeneticVariation BEFREE Four single nucleotide polymorphisms (SNPs) those locate in the IL12B region (rs56167332), the MLX region (rs665268), the FCGR2A/FCGR3A locus (rs10919543), and the HLA-B/MICA locus (rs12524487), associated with TA in different population, were genotyped in 123 Chinese TA patients and 147 healthy controls from January 2013 to August 2014. 26996483

2016

dbSNP: rs56167332
rs56167332
CUI: C0039263
Disease: Takayasu Arteritis
Takayasu Arteritis
0.020 GeneticVariation BEFREE We also established the genetic association between IL12B and Takayasu arteritis (rs56167332, OR = 1.54, p = 2.18 × 10(-8)). 23830517

2013

dbSNP: rs56167332
rs56167332
CUI: C0039263
Disease: Takayasu Arteritis
Takayasu Arteritis
0.020 GeneticVariation BEFREE Four single nucleotide polymorphisms (SNPs) those locate in the IL12B region (rs56167332), the MLX region (rs665268), the FCGR2A/FCGR3A locus (rs10919543), and the HLA-B/MICA locus (rs12524487), associated with TA in different population, were genotyped in 123 Chinese TA patients and 147 healthy controls from January 2013 to August 2014. 26996483

2016

dbSNP: rs2476601
rs2476601
CUI: C0039263
Disease: Takayasu Arteritis
Takayasu Arteritis
0.020 GeneticVariation BEFREE Totally, 181 patients with TA and 177 healthy controls are genotyped by PCR-RFLP method for the SNP rs2476601 (A/G) of PTPN22 gene. 18375974

2008

dbSNP: rs2476601
rs2476601
CUI: C0039263
Disease: Takayasu Arteritis
Takayasu Arteritis
0.020 GeneticVariation BEFREE This is the first report documenting an association between PTPN22 R620W and TA. 30470857

2019

dbSNP: rs9366782
rs9366782
CUI: C0039263
Disease: Takayasu Arteritis
Takayasu Arteritis
0.010 GeneticVariation BEFREE Our findings indicated that rs12524487 in HLA-B/MICA was a genetic risk factor for TA in a Chinese Han population and rs9366782 in this region was associated with ischemic brain disease in TA but not TA susceptibility. 28261975

2018

dbSNP: rs763780
rs763780
CUI: C0039263
Disease: Takayasu Arteritis
Takayasu Arteritis
0.010 GeneticVariation BEFREE G allele of rs763780 in IL-17F gene was protectively associated against susceptibility to TA. 28438554

2018

dbSNP: rs60689680
rs60689680
CUI: C0039263
Disease: Takayasu Arteritis
Takayasu Arteritis
0.010 GeneticVariation BEFREE We demonstrated a allele association between the four SNPs of IL12B and TA (rs6871626: OR 1.52, 95% CI 1.26-1.83; rs4921492: OR 1.46, 95% CI 1.21-1.75; rs60689680: OR 1.41, 95% CI 1.17-1.69; rs4921493: OR 1.45, 95% CI 1.21-1.75, all P <sub>c</sub>  < 10<sup>- 3</sup> ). 28160070

2017

dbSNP: rs582054
rs582054
CUI: C0039263
Disease: Takayasu Arteritis
Takayasu Arteritis
0.010 GeneticVariation BEFREE However, a trend for IL12A rs582054 and IL23R rs1004819 in association with the TA phenotype was detected. 26987707

2016

dbSNP: rs4921493
rs4921493
CUI: C0039263
Disease: Takayasu Arteritis
Takayasu Arteritis
0.010 GeneticVariation BEFREE We demonstrated a allele association between the four SNPs of IL12B and TA (rs6871626: OR 1.52, 95% CI 1.26-1.83; rs4921492: OR 1.46, 95% CI 1.21-1.75; rs60689680: OR 1.41, 95% CI 1.17-1.69; rs4921493: OR 1.45, 95% CI 1.21-1.75, all P <sub>c</sub>  < 10<sup>- 3</sup> ). 28160070

2017

dbSNP: rs4921492
rs4921492
CUI: C0039263
Disease: Takayasu Arteritis
Takayasu Arteritis
0.010 GeneticVariation BEFREE We demonstrated a allele association between the four SNPs of IL12B and TA (rs6871626: OR 1.52, 95% CI 1.26-1.83; rs4921492: OR 1.46, 95% CI 1.21-1.75; rs60689680: OR 1.41, 95% CI 1.17-1.69; rs4921493: OR 1.45, 95% CI 1.21-1.75, all P <sub>c</sub>  < 10<sup>- 3</sup> ). 28160070

2017