Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs2476601
rs2476601
0.030 GeneticVariation BEFREE Although other vasculitides, such as giant cell arteritis (GCA) or immunoglobulin A vasculitis, have not benefitted by the great advantage of the large-scale genetic analyses yet, some interesting associations have been recently suggested, such as the classical functional PTPN22 allele rs2476601 (R620W) with GCA. 25405820

2015

dbSNP: rs2476601
rs2476601
0.030 GeneticVariation BEFREE Our results suggest that the PTPN22 polymorphism rs2476601/R620W plays an important role in the genetic risk to GCA. 23946333

2013

dbSNP: rs2476601
rs2476601
0.030 GeneticVariation BEFREE In the non-HLA region, we confirmed a key role for the functional PTPN22 rs2476601 variant and proposed other putative risk loci for GCA involved in Th1, Th17, and Treg cell function. 25817017

2015

dbSNP: rs397507444
rs397507444
0.030 GeneticVariation BEFREE The MTHFR A1298C polymorphism had no effect on risk of GCA. 12433726

2002

dbSNP: rs397507444
rs397507444
0.030 GeneticVariation BEFREE Using a cohort we have been studying in Linxian since 1985, we examined the relationship between incident ESCC and GCA cancers and three polymorphisms in two genes that code for enzymes that require folate and B(12) as cofactors: methionine synthase reductase (MTRR) A66G and methylenetetrahydrofolate reductase (MTHFR) C677T and A1298C. 14652285

2003

dbSNP: rs397507444
rs397507444
0.030 GeneticVariation BEFREE The A1298C polymorphism was associated with GCA in East Asians: the FE OR for the allele contrast (C vs. A) was 1.38 (1.18-1.62), and under a recessive model for allele C, OR=1.62 (1.28-2.06). 16758123

2006

dbSNP: rs4986790
rs4986790
0.030 GeneticVariation BEFREE A meta-analysis, comprising 577 GCA patients and 1153 controls, did not confirm an association between GCA and rs4986790 (OR 1.29, 95% CI 0.86, 1.92, p=0.22). 24447403

2014

dbSNP: rs4986790
rs4986790
0.030 GeneticVariation BEFREE This meta-analysis demonstrates that the TLR4 Asp299Gly polymorphism may confer susceptibility to GCA. 23065292

2013

dbSNP: rs4986790
rs4986790
0.030 GeneticVariation BEFREE A total of 155 patients with biopsy-proven GCA who were residents of Reggio Emilia, Italy, and 210 population-based controls from the same geographical area were genotyped for two coding single nucleotide polymorphisms of TLR4 (Asp299Gly and Thr399Ile) by molecular methods. 19646345

2010

dbSNP: rs1217691063
rs1217691063
0.020 GeneticVariation BEFREE The association between the MTHFR C677T and SHMT ( 1 ) C1420T polymorphisms and the risk of ESCC and GCA was demonstrated. 17206530

2007

dbSNP: rs1217691063
rs1217691063
0.020 GeneticVariation BEFREE Our results suggest that the MTHFR C677T and MTRR A66G polymorphisms influence the risk of ESCC and GCA in this population. 14652285

2003

dbSNP: rs1799969
rs1799969
0.020 GeneticVariation BEFREE Our findings show that G/R 241 polymorphism of ICAM-1 is associated with PMR/GCA susceptibility and confers an increased risk of relapse/recurrence in PMR. 10813290

2000

dbSNP: rs1799969
rs1799969
0.020 GeneticVariation BEFREE In addition, the meta-analysis revealed a significant association between the ICAM-1 G241R R allele and Behcet's disease (BD) (OR = 3.261, 95% CI = 1.653-6.434, p = 0.001), but not giant cell arteritis. 27894415

2016

dbSNP: rs1883832
rs1883832
0.020 GeneticVariation BEFREE Our results suggest a potential implication of the CD40 rs1883832 C/T polymorphism in susceptibility to visual ischemic manifestations in individuals with biopsy-proven GCA. 20682661

2010

dbSNP: rs1883832
rs1883832
0.020 GeneticVariation BEFREE CD40 rs1883832 is associated with decreased risk of Graves' disease, especially in Asian; CD40 rs1883832 is associated with increased risk of multiple sclerosis; CD40 -1C>T (rs1883832) is not associated with the susceptibility of Hashimoto's thyroiditis, systemic sclerosis or Asthma; there is insufficient data to fully confirm the association between CD40 rs1883832 and systemic lupus erythematosus (SLE), rheumatoid arthritis (RA), Behçet's disease (BD), myasthenia gravis (MG), Crohn's disease (CD), ulcerative colitis (UC), Sarcoidosis, Fuch uveitis syndrome (FUS), Vogt-Koyanagi-Harada syndrome (VKH), Kawasaki disease (KD), giant cell arteritis (GCA) or Immune thrombocytopenia (ITP). 29254239

2017

dbSNP: rs2274223
rs2274223
0.020 GeneticVariation BEFREE The association was more prominent for rs2274223 in female (OR = 1.86, 95% CI: 1.49-2.32) and gastric cardia adenocarcinoma (GCA) (OR = 1.71, 95% CI: 1.49-1.95). 21427165

2011

dbSNP: rs2274223
rs2274223
0.020 GeneticVariation BEFREE A single nucleotide polymorphism (SNP, rs2274223) in PLCE1 has been identified as a novel susceptibility locus in genome-wide association studies (GWAS) of esophageal squamous cell carcinoma (ESCC) and gastric cardia adenocarcinoma (GCA) that share similar risk factors with SCCHN. 21689432

2011

dbSNP: rs4986791
rs4986791
0.020 GeneticVariation BEFREE These SNPs included rs4986790 (+896A/G, Asp299Gly) and rs4986791 (+1196C/T) which have been previously studied in GCA. 24447403

2014

dbSNP: rs4986791
rs4986791
0.020 GeneticVariation BEFREE A total of 155 patients with biopsy-proven GCA who were residents of Reggio Emilia, Italy, and 210 population-based controls from the same geographical area were genotyped for two coding single nucleotide polymorphisms of TLR4 (Asp299Gly and Thr399Ile) by molecular methods. 19646345

2010

dbSNP: rs10069690
rs10069690
0.010 GeneticVariation BEFREE We observed that CXCR4 rs6430612, TERT rs10069690, and rs2853676 as well as VPS34 rs2162440 are significantly associated with GCA development. 30900102

2019

dbSNP: rs1042522
rs1042522
0.010 GeneticVariation BEFREE This study examined the effect of P53 Arg72Pro variants on transactivation of polymorphic MDM2 promoter (T309G) and their associations with risk of developing gastric cardia adenocarcinoma (GCA) in a Chinese population. 17638920

2007

dbSNP: rs1059702
rs1059702
0.010 GeneticVariation BEFREE Our data suggest that IRAK1 rs1059702 and MECP2 rs17435 genetic variants do not play a significant role in GCA susceptibility or severity. 24709033

2014

dbSNP: rs10783618
rs10783618
0.010 GeneticVariation BEFREE Among three htSNPs of the HOTAIR gene (rs12826786 C>T, rs4759314 A>G, and rs10783618 C>T), only the T allele of rs12826786 was found to increase the risk of developing GCA and was associated with smoking habit and tumor-node-metastasis (TNM) stage. 25476857

2015

dbSNP: rs10818488
rs10818488
0.010 GeneticVariation BEFREE Our results showed no influence of rs10818488 and rs2900180 TRAF1/C5 gene polymorphisms in susceptibility to and clinical expression of GCA. 19918040

2010

dbSNP: rs1131691014
rs1131691014
0.010 GeneticVariation BEFREE This study examined the effect of P53 Arg72Pro variants on transactivation of polymorphic MDM2 promoter (T309G) and their associations with risk of developing gastric cardia adenocarcinoma (GCA) in a Chinese population. 17638920

2007