Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1801275
rs1801275
CUI: C1840254
Disease: ATOPY, SUSCEPTIBILITY TO (finding)
ATOPY, SUSCEPTIBILITY TO (finding)
G 0.700 SusceptibilityMutation CLINVAR

dbSNP: rs1801275
rs1801275
CUI: C0004096
Disease: Asthma
Asthma
0.100 GeneticVariation BEFREE IL-4 rs2243250 and rs2070874 allele and genotype frequencies did not significantly differ between the asthma and control groups (P > 0.05), but those of IL-4R rs1801275 did (P < 0.05). 27819719

2016

dbSNP: rs1801275
rs1801275
CUI: C0004096
Disease: Asthma
Asthma
0.100 GeneticVariation BEFREE The results of this meta-analysis suggested that the IL4RA I50V and Q551R polymorphisms may be risk factors for developing asthma. 23922687

2013

dbSNP: rs1801275
rs1801275
CUI: C0004096
Disease: Asthma
Asthma
0.100 GeneticVariation BEFREE Polymorphisms rs2243250 and rs2070874 of IL-4 and rs1801275 and rs1805011 of IL4R were associated with asthma. 23924473

2013

dbSNP: rs1801275
rs1801275
CUI: C0004096
Disease: Asthma
Asthma
0.100 GeneticVariation BEFREE We found an association between atopic bronchial asthma and the SNPs Gln576Arg in IL4RA and -33C>T in IL4. 22533235

2012

dbSNP: rs1801275
rs1801275
CUI: C0004096
Disease: Asthma
Asthma
0.100 GeneticVariation BEFREE The IL4RA Q551R SNP is associated with nonatopic asthma in Slovenian children. 20517665

2010

dbSNP: rs1801275
rs1801275
CUI: C0004096
Disease: Asthma
Asthma
0.100 GeneticVariation BEFREE The combined analysis of two IL4RA single nucleotide polymorphisms (SNPs) (I50V and Q551R) showed an association with asthma: IL4RA V50/Q551 was associated with risk (OR = 2.48, p = 0.007) whereas the IL4RA V50R551 haplotype was associated with protection (OR = 0.31, p = 0.003). 18849614

2009

dbSNP: rs1801275
rs1801275
CUI: C0004096
Disease: Asthma
Asthma
0.100 GeneticVariation BEFREE Our findings indicate that the Q576R polymorphism directly promotes asthma in carrier populations by selectively augmenting IL-4R alpha-dependent signaling. 19770271

2009

dbSNP: rs1801275
rs1801275
CUI: C0004096
Disease: Asthma
Asthma
0.100 GeneticVariation BEFREE We sought to determine the average risk of asthma associated with the I50V and Q551R IL4R variants based on the results of case-control studies reported in the literature. 17586032

2007

dbSNP: rs1801275
rs1801275
CUI: C0004096
Disease: Asthma
Asthma
0.100 GeneticVariation BEFREE We aimed to investigate the association of the polymorphisms for IL-4 (C-589T), IL-4R alpha (Gln576Arg), TNF-alpha (G-308A) and LT-alpha (A252G) genes as candidates and asthma in adult Hong Kong Chinese population. 17536219

2007

dbSNP: rs1801275
rs1801275
CUI: C0004096
Disease: Asthma
Asthma
0.100 GeneticVariation BEFREE To determine whether Ile50Val and Q576R polymorphisms of IL-4 receptor alpha chain gene were associated with asthma and higher level of total IgE in Chinese, Malay and Indian populations. 16757160

2007

dbSNP: rs1801275
rs1801275
CUI: C0004096
Disease: Asthma
Asthma
0.100 GeneticVariation BEFREE Polymorphisms in the interleukin-4 (C-590T), interleukin-4 receptor (ile50val and gln576arg), and interleukin-13 (arg130gln) genes have been described as susceptibility alleles for asthma. 17284225

2007

dbSNP: rs1801275
rs1801275
CUI: C0004096
Disease: Asthma
Asthma
0.100 GeneticVariation BEFREE For the Arg551Gln polymorphism, the combined genotype frequency of the Arg/Gln heterozygote and the Arg/Arg homozygote was significantly higher in atopic asthmatics (27.6%) than in healthy children (16.0%) (odds ratio (OR) = 1.97, 95% CI (confidence interval) = 1.07-3.71). 15298559

2004

dbSNP: rs1801275
rs1801275
CUI: C0004096
Disease: Asthma
Asthma
0.100 GeneticVariation BEFREE Single nucleotide polymorphisms (SNPs) leading to the protein exchanges I50V, E375A, C406R, S478P and Q551R in the IL-4 receptor alpha were examined for allele sharing in sibs with asthma. 12047364

2002

dbSNP: rs1801275
rs1801275
CUI: C0017638
Disease: Glioma
Glioma
0.050 GeneticVariation BEFREE Univariate analysis showed that IL4R rs1801275 was significantly associated with overall survival of glioma and astrocytoma patients (P < 0.05). 27495027

2016

dbSNP: rs1801275
rs1801275
CUI: C0017638
Disease: Glioma
Glioma
0.050 GeneticVariation BEFREE Subgroup analysis by ethnicity revealed that the IL-4Rα rs1801275</span> variant G and GG + AG exerted a decreased risk effect on the development of glioma among Asians, but not Caucasians (G vs. A, OR = 0.81, 95% CI = 0.69-0.95, P OR = 0.011; GG + AG vs. AA, OR = 0.80, 95% CI = 0.66-0.96, P OR = 0.018). 23979976

2014

dbSNP: rs1801275
rs1801275
CUI: C0017638
Disease: Glioma
Glioma
0.050 GeneticVariation BEFREE This meta-analysis suggests that the IL13 rs20541 but not the IL-4Rα rs1801275 polymorphism may be a genetic predictor for glioma. 23395224

2013

dbSNP: rs1801275
rs1801275
CUI: C0017638
Disease: Glioma
Glioma
0.050 GeneticVariation BEFREE Overall, we found three protective alleles for glioma in patients: the allele "G" of rs1801275 in the IL4R gene by allele model (odds ratio [OR], 0.71; 95% confidence interval [CI], 0.50-0.99; P=0.04) and dominant model (OR, 0.67; 95% CI, 0.46-0.99; P=0.04) analysis respectively, the allele "T" of rs17748 in the TREH gene by recessive model (OR, 0.48; 95% CI, 0.23-1.01; P=0.05) analysis, and the allele "G" of rs6470745 in CCDC26 gene by recessive model (OR, 0.48; 95% CI, 0.26-0.89; P=0.02) analysis. 22369735

2012

dbSNP: rs1801275
rs1801275
CUI: C0017638
Disease: Glioma
Glioma
0.050 GeneticVariation BEFREE Interaction between IL-13 Arg130Gln and IL-4Ra Gln576Arg was observed in decreasing glioma risk (p=0.045). 21196282

2011

dbSNP: rs1801275
rs1801275
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
0.040 GeneticVariation BEFREE The present case-control study inspected the association between seven single nucleotide polymorphisms (SNPs) of IL4 (IL4<sub>-1098</sub>: rs2243248, IL4<sub>-590</sub>: rs2243250, and IL4<sub>-33</sub>: rs2070874), IL4RA (IL4RA<sub>+1902</sub>: rs1801275), and IL10 (IL10<sub>-1082</sub>: rs1800896, IL10<sub>-819</sub>: rs1800871, and IL10<sub>-592</sub>: rs1800872) genes and MS in Iraqi patients. 31264107

2019

dbSNP: rs1801275
rs1801275
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
0.040 GeneticVariation BEFREE The meta-analysis indicates that the T allele, CT and TT genotype of polymorphism of IL4 rs2243250 (C/T) may reduce the risk of MS in Caucasian populations, while polymorphisms of IL4 I3(709)*VNTR and IL4R rs1801275 may not associated with risk of MS in Caucasian populations. 27000232

2016

dbSNP: rs1801275
rs1801275
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.040 GeneticVariation BEFREE This meta-analysis indicates that the I50V polymorphism of IL-4R gene may confer susceptibility to RA; up to now, there is still not enough evidence to reveal the association of the IL-4R gene Q551R polymorphism with RA risk. 23972290

2013

dbSNP: rs1801275
rs1801275
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.040 GeneticVariation BEFREE The frequencies of IL-4Rα Q576R genotype were significantly decreased in patients with erosive RA compared to patients with nonerosive RA (31.6% versus 48.2%, OR: 2.7, 95% CI: 1-7.7, P: 0.04). 21497535

2012

dbSNP: rs1801275
rs1801275
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
0.040 GeneticVariation BEFREE To determine whether IL4R single-nucleotide polymorphisms (SNPs) rs1805010 (I50V) and rs1801275 (Q551R), which have been associated with disease severity in rheumatoid arthritis (RA) patients of European ancestry, relate to the presence of rheumatoid nodules and radiographic erosions in African Americans. 20444266

2010

dbSNP: rs1801275
rs1801275
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
0.040 GeneticVariation BEFREE It was also observed a significant (p=0.016) increase for the IL4R* Q551R CC genotype in AF-MS compared to those of Caucasian ethnicity (AF-MS= 21.62%; CA-MS= 4.35%). 17420820

2007