Genomes and Genes
Gene Symbol: IL4R
Description: interleukin 4 receptor
Alias: CD124, IL-4RA, IL4RA, interleukin-4 receptor subunit alpha, IL-4 receptor subunit alpha, IL4R nirs variant 1, interleukin 13 receptor, interleukin-4 receptor alpha chain
- Chu H, Wang M, Yan F, Zhong D, Shi D, Ma L, et al. Polymorphisms in the IL-13 and IL-4R genes are associated with the development of renal cell carcinoma. Ann Oncol. 2012;23:2114-21 pubmed publisher..Furthermore, a multiplicative interaction association between the combined IL-4R Ile50Val and IL-13 C-1055T genotypes was observed to decrease the risk of RCC (P=0.036). IL-13 and IL-4R may play an important role in the etiology of RCC. ..
- Risma K, Wang N, Andrews R, Cunningham C, Ericksen M, Bernstein J, et al. V75R576 IL-4 receptor alpha is associated with allergic asthma and enhanced IL-4 receptor function. J Immunol. 2002;169:1604-10 pubmed..These data illustrate the importance of studying snps in combination, because the functional significance of a given snp may only be evident in a specific setting of additional snps in the same or different genes. ..
- Vargiolu M, Silvestri T, Bonora E, Dolzani P, Pulsatelli L, Addimanda O, et al. Interleukin-4/interleukin-4 receptor gene polymorphisms in hand osteoarthritis. Osteoarthritis Cartilage. 2010;18:810-6 pubmed publisher..Our results, in keeping with previous data on hip OA, confirm the suggestion that IL-4/IL-4R system plays a role in OA pathogenesis. Further confirmation studies on different populations are necessary. ..
- Moreno O, Gonzalez C, Saaibi D, Otero W, Badillo R, Martin J, et al. Polymorphisms in the IL4 and IL4RA genes in Colombian patients with rheumatoid arthritis. J Rheumatol. 2007;34:36-42 pubmed..We analyzed 2 polymorphisms of the IL4 gene and 4 polymorphisms of the IL4RA gene in patients with RA and in a control population, as well as rheumatoid factor (RF) seropositivity, titers of ..
- Scheurer M, Amirian E, Cao Y, Gilbert M, Aldape K, Kornguth D, et al. Polymorphisms in the interleukin-4 receptor gene are associated with better survival in patients with glioblastoma. Clin Cancer Res. 2008;14:6640-6 pubmed publisher..2001 and 2006 in Harris County, TX, we examined seven SNPs in the interleukin (IL)-4, IL-13, and IL-4 receptor (IL4R) genes...
- Mitsuyasu H, Izuhara K, Mao X, Gao P, Arinobu Y, Enomoto T, et al. Ile50Val variant of IL4R alpha upregulates IgE synthesis and associates with atopic asthma. Nat Genet. 1998;19:119-20 pubmed
- Zhang H, Zhang Q, Wang L, Chen H, Li Y, Cui T, et al. Association of IL4R gene polymorphisms with asthma in Chinese populations. Hum Mutat. 2007;28:1046 pubmed..5kb) of eight genes, including IL4, IL13, IL12B, IL5, IL3, IL9, CD14 and IL4R. We identified 42 single nucleotide polymorphisms, 15 of which were novel...
- Mohan S, Mohanasenthil -, Paul S, Shroff S, Venkatesan V. Interleukin-4-receptor alpha gene polymorphism and the risk of renal cell carcinoma in a South Indian population. Asian Pac J Cancer Prev. 2009;10:295-8 pubmed..Stratified analysis based on the genotypes and the stage of tumor revealed no significant association. Thus, the present study indicates that IL4Ralpha could be a candidate gene for assessing the risk of RCC. ..
- Mak J, Ko F, Chu C, Leung H, Chan H, Cheung A, et al. Polymorphisms in the IL-4, IL-4 receptor alpha chain, TNF-alpha, and lymphotoxin-alpha genes and risk of asthma in Hong Kong Chinese adults. Int Arch Allergy Immunol. 2007;144:114-22 pubmed..16-9.62, p = 0.026 for homozygotes). Our results suggest that the variability of LT-alpha genotypes may have potential implications for individual susceptibility to asthma in atopic or in ever-smoking Chinese adults in Hong Kong. ..
- Hage T, Sebald W, Reinemer P. Crystal structure of the interleukin-4/receptor alpha chain complex reveals a mosaic binding interface. Cell. 1999;97:271-81 pubmed..Novel insights on ligand binding in the cytokine receptor family and a paradigm for receptors of IL-2, IL-7, IL-9, and IL-15, which all utilize gamma c, are provided. ..
- Xiaomin L, Fenglin C, Jianmin H, Yuzhi S, Binsheng G, Yingmei Z. Correlation between genetic polymorphism of cytokine genes, plasma protein levels and bronchial asthma in the Han people in northern China. J Asthma. 2008;45:583-9 pubmed publisher..The information at the protein level should be fully developed and the bioinformatics techniques can be used for the comprehensive analysis, to have a deep understanding of molecular mechanisms of incidence and development of diseases. ..
- Bottema R, Nolte I, Howard T, Koppelman G, Dubois A, de Meer G, et al. Interleukin 13 and interleukin 4 receptor-? polymorphisms in rhinitis and asthma. Int Arch Allergy Immunol. 2010;153:259-67 pubmed publisher..Genetic research can increase our understanding of their common or distinct pathogenesis. IL13 and IL4R polymorphisms are associated with asthma and show gene-gene interaction in asthma...
- Schwartzbaum J, Ahlbom A, Malmer B, Lonn S, Brookes A, Doss H, et al. Polymorphisms associated with asthma are inversely related to glioblastoma multiforme. Cancer Res. 2005;65:6459-65 pubmed..However, our findings are also consistent with associations between IL-4RA, IL-13, and GBM that are independent of their role in allergic conditions. ..
- Hytönen A, Lowhagen O, Arvidsson M, Balder B, Björk A, Lindgren S, et al. Haplotypes of the interleukin-4 receptor alpha chain gene associate with susceptibility to and severity of atopic asthma. Clin Exp Allergy. 2004;34:1570-5 pubmed..Several groups have suggested the gene of the IL-4 receptor alpha chain (IL4R) as a candidate gene for the development of asthma, although association with single polymorphisms has shown ..
- Olson S, Orlow I, Simon J, Tommasi D, Roy P, Bayuga S, et al. Allergies, variants in IL-4 and IL-4R alpha genes, and risk of pancreatic cancer. Cancer Detect Prev. 2007;31:345-51 pubmed..The consistent association of allergies with risk of pancreatic cancer and these results suggest that associations between variants in genes related to allergic response and pancreatic cancer warrant further study. ..
- Jin T, Li X, Zhang J, Wang H, Geng T, Li G, et al. Genetic association between selected cytokine genes and glioblastoma in the Han Chinese population. BMC Cancer. 2013;13:236 pubmed publisher..This study aims to detect the association of cytokine genes with GBM...
- Cui T, Wang L, Wu J, Hu L, Xie J. Polymorphisms of IL-4, IL-4R alpha, and AICDA genes in adult allergic asthma. J Huazhong Univ Sci Technolog Med Sci. 2003;23:134-7 pubmed..127, respectively; P < 0.01)] and was correlated with the increased plasma total IgE. These data suggested that the IL-4R alpha chain 576R/R and AICDA 8408T/T genotypes confer genetic susceptibility to adult allergic asthma in China. ..
- Kruse S, Japha T, Tedner M, Sparholt S, Forster J, Kuehr J, et al. The polymorphisms S503P and Q576R in the interleukin-4 receptor alpha gene are associated with atopy and influence the signal transduction. Immunology. 1999;96:365-71 pubmed..This could explain the observed association effects with lowered total IgE concentrations. ..
- Deichmann K, Heinzmann A, Forster J, Dischinger S, Mehl C, Brueggenolte E, et al. Linkage and allelic association of atopy and markers flanking the IL4-receptor gene. Clin Exp Allergy. 1998;28:151-5 pubmed..We conclude from our findings that maternal inheritance of a gene in the chromosome 16p12 region increases the risk for enhanced IgE responsiveness. The most prominent candidate in this region is represented by the IL4 receptor gene. ..
- Hershey G, Friedrich M, Esswein L, Thomas M, Chatila T. The association of atopy with a gain-of-function mutation in the alpha subunit of the interleukin-4 receptor. N Engl J Med. 1997;337:1720-5 pubmed..The R576 allele of interleukin-4 receptor alpha is strongly associated with atopy. This mutation may predispose persons to allergic diseases by altering the signaling function of the receptor. ..
- Noguchi E, Shibasaki M, Arinami T, Takeda K, Yokouchi Y, Kobayashi K, et al. No association between atopy/asthma and the ILe50Val polymorphism of IL-4 receptor. Am J Respir Crit Care Med. 1999;160:342-5 pubmed..Susceptibility to atopic diseases is known to involve genetic factors. The interleukin-4 (IL-4) receptor- alpha gene (IL4R) reportedly is involved in the development of atopy...
- Lozano F, Places L, Vila J, Padilla O, Arman M, Gimferrer I, et al. Identification of a novel single-nucleotide polymorphism (Val554Ile) and definition of eight common alleles for human IL4RA exon 11. Tissue Antigens. 2001;57:216-20 pubmedThe interleukin (IL)-4 receptor alpha chain gene (IL4RA) is a polymorphic gene which is reportedly involved in the development of atopy...
- Wang J, Liou Y, Wu Y, Hsiao Y, Wu L. An association study of 13 SNPs from seven candidate genes with pediatric asthma and a preliminary study for genetic testing by multiple variants in Taiwanese population. J Clin Immunol. 2009;29:205-9 pubmed publisher..Our study provided a genotype synergistic method for studying gene-gene interaction on polymorphism basis and genetic testing using multiple polymorphisms. ..
- Sun G, Wang X, Shi L, Yue X, Fu L, Chen C, et al. Association between polymorphisms in interleukin-4R? and interleukin-13 and glioma risk: a meta-analysis. Cancer Epidemiol. 2013;37:306-10 pubmed publisher..More studies with larger sample size are warranted to further elucidate the impact of the IL13 rs20541 polymorphism on glioma risk. ..
- Deichmann K, Bardutzky J, Forster J, Heinzmann A, Kuehr J. Common polymorphisms in the coding part of the IL4-receptor gene. Biochem Biophys Res Commun. 1997;231:696-7 pubmed..Furthermore, the protein represents a candidate gene for several immunological disorders involving the IL4 pathway. ..
- Zhang J, Simeonowa I, Wang Y, Sebald W. The high-affinity interaction of human IL-4 and the receptor alpha chain is constituted by two independent binding clusters. J Mol Biol. 2002;315:399-407 pubmed..These results show that the high-affinity IL-4/IL4-BP contact is constituted by two independent binding units, each containing a central polar or charged side-chain surrounded by hydrophobic groups (avocado cluster). ..
- Melen E, Umerkajeff S, Nyberg F, Zucchelli M, Lindstedt A, Gullsten H, et al. Interaction between variants in the interleukin-4 receptor alpha and interleukin-9 receptor genes in childhood wheezing: evidence from a birth cohort study. Clin Exp Allergy. 2006;36:1391-8 pubmedSeveral polymorphisms in the IL-4 receptor alpha (IL4RA) gene have been associated with asthma and atopy, but with variable success in different populations...
- Prots I, Skapenko A, Wendler J, Mattyasovszky S, Yoné C, Spriewald B, et al. Association of the IL4R single-nucleotide polymorphism I50V with rapidly erosive rheumatoid arthritis. Arthritis Rheum. 2006;54:1491-500 pubmedTo examine whether single-nucleotide polymorphisms (SNPs) of the interleukin-4 receptor gene IL4R influence susceptibility to, or radiographic progression in, rheumatoid arthritis (RA)...
- Bugawan T, Mirel D, Valdes A, Panelo A, Pozzilli P, Erlich H. Association and interaction of the IL4R, IL4, and IL13 loci with type 1 diabetes among Filipinos. Am J Hum Genet. 2003;72:1505-14 pubmed..Ten single-nucleotide polymorphisms (SNPs), including two promoter SNPs in the IL4R locus on chromosome 16p11, one promoter SNP in the IL4 locus on chromosome 5q31, and four SNPs--including two ..
- Isidoro Garcia M, Davila I, Moreno E, Laffond E, Lorente F, Gonzalez Sarmiento R. [IL4RA gene polymorphism (Q576R) is associated with higher total IgE levels in Spanish patients with family history of atopy]. Med Clin (Barc). 2005;124:211-2 pubmed..There is an association between atopy and the polymorphism Q576R in the IL4RA gene...
- Berce V, Potocnik U. Association of Q551R polymorphism in the interleukin 4 receptor gene with nonatopic asthma in Slovenian children. Wien Klin Wochenschr. 2010;122 Suppl 2:11-8 pubmed publisher..The single nucleotide polymorphisms (SNPs) Q551R in the IL4RA gene and C-33T in the IL4 gene probably influence IL4/IL4R pathway signaling; however, findings in association ..
- Cornejo Garcia J, Guéant Rodriguez R, Torres M, Blanca Lopez N, Tramoy D, Romano A, et al. Biological and genetic determinants of atopy are predictors of immediate-type allergy to betalactams, in Spain. Allergy. 2012;67:1181-5 pubmed publisher..measured specific Immunoglobulin E (IgE) against prevalent allergens and genetic predictors of atopy, IL13, IL4, IL4RA, IL4, and TNFA, in 340 patients and 340 controls from South of Spain...
- Koller F, Hwang D, Dozier E, Fingleton B. Epithelial interleukin-4 receptor expression promotes colon tumor growth. Carcinogenesis. 2010;31:1010-7 pubmed publisher..An orthotopic allograft model was used to determine in vivo effects of tumor cell-specific IL4Ra ablation...
- Su M, Tung K, Liang P, Tsai C, Kuo N, Lee Y. Gene-gene and gene-environmental interactions of childhood asthma: a multifactor dimension reduction approach. PLoS ONE. 2012;7:e30694 pubmed publisher..between the gene coding glutathione S-transferase P (GSTP1), the gene coding interleukin-4 receptor alpha chain (IL4Ra) and the gene coding insulin induced gene 2 (INSIG2) on the risk of lifetime asthma...
- Keegan A, Nelms K, White M, Wang L, Pierce J, Paul W. An IL-4 receptor region containing an insulin receptor motif is important for IL-4-mediated IRS-1 phosphorylation and cell growth. Cell. 1994;76:811-20 pubmed..Thus, the central tyrosine of the I4R motif has a major role in IL-4-mediated signal transduction in 32D cells. ..
- Marinou I, Till S, Moore D, Wilson A. Lack of association or interactions between the IL-4, IL-4Ralpha and IL-13 genes, and rheumatoid arthritis. Arthritis Res Ther. 2008;10:R80 pubmed publisher..These results indicate that common variants of the IL-4/IL-13 pathway do not significantly contribute to RA susceptibility and radiological severity. ..
- Javor J, Bucova M, Ferencik S, Grosse Wilde H, Buc M. Single nucleotide polymorphisms of cytokine genes in the healthy Slovak population. Int J Immunogenet. 2007;34:273-80 pubmed..However, several differences were found between the Slovak and four populations from Southern Europe. The obtained data represent a basis for further studies on association of cytokine gene polymorphisms with some diseases. ..
- Loza M, Chang B. Association between Q551R IL4R genetic variants and atopic asthma risk demonstrated by meta-analysis. J Allergy Clin Immunol. 2007;120:578-85 pubmedb>IL4R, the gene encoding the alpha chain of the IL-4 and IL-13 receptors, has received extensive attention as a candidate gene for asthma risk...
- Battle N, Choudhry S, Tsai H, Eng C, Kumar G, Beckman K, et al. Ethnicity-specific gene-gene interaction between IL-13 and IL-4Ralpha among African Americans with asthma. Am J Respir Crit Care Med. 2007;175:881-7 pubmed..Gene-gene interaction between the IL-13 and IL-4Ralpha genes may play an important role in asthma among African Americans. ..
- Franjkovic I, Gessner A, Konig I, Kissel K, Bohnert A, Hartung A, et al. Effects of common atopy-associated amino acid substitutions in the IL-4 receptor alpha chain on IL-4 induced phenotypes. Immunogenetics. 2005;56:808-17 pubmedThe human IL-4 receptor alpha chain gene (IL4R) is highly polymorphic and controversial reports have been published with respect to the association of different single nucleotide polymorphisms (SNPs) with atopy markers...
- Landi S, Bottari F, Gemignani F, Gioia Patricola L, Guino E, Osorio A, et al. Interleukin-4 and interleukin-4 receptor polymorphisms and colorectal cancer risk. Eur J Cancer. 2007;43:762-8 pubmed..The aim of the study was to evaluate whether genetic variants within IL4 and IL4R could affect the individual risk to develop colorectal cancer...
- de Faria I, de Faria E, Toro A, Ribeiro J, Bertuzzo C. Association of TGF-beta1, CD14, IL-4, IL-4R and ADAM33 gene polymorphisms with asthma severity in children and adolescents. J Pediatr (Rio J). 2008;84:203-10 pubmed publisher..There was significant association of the Val/Val genotype (IL-4R) with mild asthma. Our results indicate that T869C (TGF-beta1), C-159T (CD14) and Val/Val (IL-4R) polymorphisms might be involved in modulation of asthma severity. ..
- Cui T, Wu J, Pan S, Xie J. Polymorphisms in the IL-4 and IL-4R [alpha] genes and allergic asthma. Clin Chem Lab Med. 2003;41:888-92 pubmed..16; p < 0.01), and also total plasma immunoglobulin E (IgE) level was increased in allergic asthma patients. These data suggest that the IL-4R alpha chain 576R/R genotypes confer genetic susceptibility to allergic asthma in Chinese. ..
- Liu X, Beaty T, Deindl P, Huang S, Lau S, Sommerfeld C, et al. Associations between specific serum IgE response and 6 variants within the genes IL4, IL13, and IL4RA in German children: the German Multicenter Atopy Study. J Allergy Clin Immunol. 2004;113:489-95 pubmed..C-590T in the IL4 gene, C-1055T and Arg130Gln in the IL13 gene, and Ile50Val, Ser478Pro, and Gln551Arg in the IL4RA gene)...
- Formentini A, Braun P, Fricke H, Link K, Henne Bruns D, Kornmann M. Expression of interleukin-4 and interleukin-13 and their receptors in colorectal cancer. Int J Colorectal Dis. 2012;27:1369-76 pubmed..These interleukins and their receptors may become attractive targets for the treatment of colorectal cancer. ..
- Kim J, Min J, Lee J. Polymorphisms in the IL-13 and IL-4 receptor alpha genes and allergic rhinitis. Eur Arch Otorhinolaryngol. 2007;264:395-9 pubmed..Our results suggest that the IL-13 exon 4 G2044A polymorphism confers susceptibility to the development of allergic rhinitis in Koreans, whereas the IL-4Ralpha Gln551Arg polymorphism is not related to allergic rhinitis. ..
- Lee Y, Choi H, Lee I, Kim T, Oh S. Association between interleukin-4R and TGF-?1 gene polymorphisms and the risk of colorectal cancer in a Korean population. Colorectal Dis. 2010;12:1208-12 pubmed publisher..00, OR?=?0.43). These results suggest that the genetic polymorphisms of IL-4R and TGF-?1 are associated with the risk of colorectal cancer in a Korean population. ..
- Yabiku K, Hayashi M, Komiya I, Yamada T, Kinjo Y, Ohshiro Y, et al. Polymorphisms of interleukin (IL)-4 receptor alpha and signal transducer and activator of transcription-6 (Stat6) are associated with increased IL-4Ralpha-Stat6 signalling in lymphocytes and elevated serum IgE in patients with Graves' disease. Clin Exp Immunol. 2007;148:425-31 pubmed..05 and 2.2-fold; P < 0.05, respectively). These findings suggest that polymorphisms in the IL-4Ralpha and Stat6 genes play an important role in elevation of serum IgE through increased Stat6 action in patients with Graves' disease. ..
- Howard T, Koppelman G, Xu J, Zheng S, Postma D, Meyers D, et al. Gene-gene interaction in asthma: IL4RA and IL13 in a Dutch population with asthma. Am J Hum Genet. 2002;70:230-6 pubmed..These cytokines also share a common receptor component, IL4R alpha. We have investigated five IL4RA single-nucleotide polymorphisms in a population of Dutch families ascertained through a proband with asthma...
- Wang H, Shelburne C, Zamorano J, Kelly A, Ryan J, Keegan A. Cutting edge: effects of an allergy-associated mutation in the human IL-4R alpha (Q576R) on human IL-4-induced signal transduction. J Immunol. 1999;162:4385-9 pubmed
- Genevay S, di Giovine F, Perneger T, Silvestri T, Stingelin S, Duff G, et al. Association of interleukin-4 and interleukin-1B gene variants with Larsen score progression in rheumatoid arthritis. Arthritis Rheum. 2002;47:303-9 pubmed..001). None of the markers tested were shown to be associated with increased or decreased risk of RA. The rarer alleles of IL-4 VNTR and IL-1B (-511) appear to be associated with a less severe course in RA of long duration. ..
- Chan I, Leung T, Tang N, Li C, Sung Y, Wong G, et al. Gene-gene interactions for asthma and plasma total IgE concentration in Chinese children. J Allergy Clin Immunol. 2006;117:127-33 pubmed..significant interaction was found between R130Q in the IL-13 gene (IL13) and I50V in the IL-4 receptor alpha gene (IL4RA) on the risk of asthma, with a cross-validation consistency of 10 of 10 and a prediction error of 33.7% (P = .014)...
- Li S, Jin T, Zhang J, Lou H, Yang B, Li Y, et al. Polymorphisms of TREH, IL4R and CCDC26 genes associated with risk of glioma. Cancer Epidemiol. 2012;36:283-7 pubmed publisher..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...
- Leung T, Tang N, Chan I, Li A, Ha G, Lam C, et al. Distribution in allele frequencies of predisposition-to-atopy genotypes in Chinese children. Pediatr Pulmonol. 2002;34:419-24 pubmed..Additional studies involving larger samples are required to investigate the association between asthma or atopy and the genotypes studied to date in Chinese children. ..
- Tang Y, Xu Z, Wu X, Li Y, Zhou T. [A study on the association between polymorphism of the interleukin-4 receptor alpha gene and bronchial asthma in a population of Han nationality]. Zhonghua Jie He He Hu Xi Za Zhi. 2006;29:440-3 pubmed..116, P > 0.05). It is suggested that the Ile50Val polymorphism of IL-4R alpha gene exists in this population of Han nationality, but is not associated with bronchial asthma. ..
- Llanes E, Quiralte J, Lopez E, Sastre B, Chacártegui M, del Pozo V, et al. Analysis of polymorphisms in olive pollen allergy: IL13, IL4RA, IL5 and ADRB2 genes. Int Arch Allergy Immunol. 2009;148:228-38 pubmed publisher..implication of 7 genetic polymorphisms described as asthma susceptibility genes: IL13 (C-1112T and R130Q), IL4RA (I50V, Q551R), IL5 (C-746T) and ADRB2 (Q27E and R16G) in specific olive pollen allergic sensitization...
- Chan I, Tang N, Leung T, Huang W, Lam Y, Li C, et al. Study of gene-gene interactions for endophenotypic quantitative traits in Chinese asthmatic children. Allergy. 2008;63:1031-9 pubmed publisher..A significant interaction was found between R130Q in IL13 and I50V in IL4RA for plasma total IgE concentration, with a cross-validation (CV) consistency of nine of 10 and a prediction error ..