Molecular Biology Reports

, Volume 39, Issue 4, pp 3747–3753 | Cite as

A comparative search for human FcεRIα gene (FCER1A) 3′-UTR polymorphisms in Japanese and Polish populations

  • Daniel P. Potaczek
  • Maya Kamijo
  • Mutsuko Hara
  • Ko Okumura
  • Anetta Undas
  • Chiharu NishiyamaEmail author


The high affinity immunoglobulin E (IgE) receptor (FcεRI) plays a key role in the pathogenesis of atopy and allergic disorders. Several polymorphisms located in 5′-flanking region and 5′-untranslated region (5′-UTR) of human FCER1A, the gene encoding FcεRI α-subunit, have been shown to functionally affect its transcriptional activity. All those genetic variants have been also associated with allergic diseases and/or serum IgE levels. In the present study, we sought to identify functional polymorphisms in human FCER1A 3′-untranslated region (3′-UTR), the potential candidates for future genetic association studies. Search for polymorphisms within human FCER1A 3′-UTR region, conducted in Japanese and Poles, revealed the presence of +5650A>G and +5714G>A variants. Subsequently, structure/distribution of haplotypes and LD measures were analyzed in Japanese and Poles for both 3′-UTR variants and the functional polymorphisms located in 5′-flanking region and 5′-UTR of human FCER1A. Additionally, reporter plasmids containing human FCER1A main promoter and 3′-UTR with all four possible combinations of +5650A>G and +5714G>A polymorphisms were constructed to evaluate functional potential of both 3′-UTR variants. However, no genotype-related differences in the gene expression were observed, as measured by reporter activity in cultured human basophil/mast cell-like KU812 cells, suggesting that both +5650A>G and +5714G>A have no genotype-related functional effect. In summary, we described linkage disequilibrium and the distribution of haplotypes for two identified human FCER1A 3′-UTR polymorphisms and several previously reported 5′-flanking region and 5′-UTR variants in Japanese and Poles, representative for East Asians and Caucasians, the two ethnic groups in which genetic associations between FCER1A and allergic diseases and/or serum IgE levels have been previously reported.


FCER1A FcεRI Haplotype Linkage disequilibrium Polymorphism 3′-UTR 



This work was supported by the Japan Society for the Promotion of Science (JSPS) Grant (to D. P. P) and the Funding Program for Next Generation World-Leading Researchers from the Ministry of Education, Culture, Sports, Science and Technology of Japan (to C. N.). We are grateful to Miss Michiyo Matsumoto for all her help and assistance.

Supplementary material

11033_2011_1150_MOESM1_ESM.doc (44 kb)
Supplementary material 1 (DOC 44 kb)


  1. 1.
    Zhang M, Murphy RF, Agrawal DK (2007) Decoding IgE Fc receptors. Immunol Res 37:1–16PubMedCrossRefGoogle Scholar
  2. 2.
    Potaczek DP, Nishiyama C, Sanak M, Szczeklik A, Okumura K (2009) Genetic variability of the high-affinity IgE receptor α-subunit (FcεRIα). Immunol Res 45:75–84PubMedCrossRefGoogle Scholar
  3. 3.
    Hasegawa M, Nishiyama C, Nishiyama M, Akizawa Y, Mitsuishi K, Ito T, Kawada H, Furukawa S, Ra C, Okumura K, Ogawa H (2003) A novel −66T/C polymorphism in FcεRI α-chain promoter affecting the transcription activity: possible relationship to allergic diseases. J Immunol 171:1927–1933PubMedGoogle Scholar
  4. 4.
    Bae JS, Kim SH, Ye YM, Yoon HJ, Suh CH, Nahm DH, Park HS (2007) Significant association of FcεRIα promoter polymorphisms with aspirin-intolerant chronic urticaria. J Allergy Clin Immunol 119:449–456PubMedCrossRefGoogle Scholar
  5. 5.
    Kanada S, Nakano N, Potaczek DP, Maeda K, Shimokawa N, Niwa Y, Fukai T, Sanak M, Szczeklik A, Yagita H, Okumura K, Ogawa H, Nishiyama C (2008) Two different transcription factors discriminate the −315C>T polymorphism of the FcεRIα gene: binding of Sp1 to −315C and of a high mobility group-related molecule to −315T. J Immunol 180:8204–8210PubMedGoogle Scholar
  6. 6.
    Potaczek DP, Maeda K, Wang QH, Nakano N, Kanada S, Stepien E, Branicka A, Fukai T, Hara M, Tokura T, Ogawa H, Undas A, Okumura K, Nishiyama C (2009) FcεRIα gene −18483A>C polymorphism affects transcriptional activity through YY1 binding. Immunogenetics 61:649–655PubMedCrossRefGoogle Scholar
  7. 7.
    Musilova P, Kubickova S, Vychodilova-Krenkova L, Kralik P, Matiasovic J, Hubertova D, Rubes J, Horin P (2005) Cytogenetic mapping of immunity-related genes in the domestic horse. Anim Genet 36:507–510PubMedCrossRefGoogle Scholar
  8. 8.
    Vychodilova-Krenkova L, Matiasovic J, Horin P (2005) Single nucleotide polymorphisms in four functionally related immune response genes in the horse: CD14, TLR4, , and Fcε R1 alpha. Int J Immunogenet 32:277–283PubMedCrossRefGoogle Scholar
  9. 9.
    Shikanai T, Silverman ES, Morse BW, Lilly CM, Inoue H, Drazen JM (2002) Sequence variants in the FcεRI alpha chain gene. J Appl Physiol 93:37–41PubMedGoogle Scholar
  10. 10.
    Potaczek DP, Sanak M, Mastalerz L, Setkowicz M, Kaczor M, Nizankowska E, Szczeklik A (2006) The α-chain of high-affinity receptor for IgE (FcεRIα) gene polymorphisms and serum IgE levels. Allergy 61:1230–1233PubMedCrossRefGoogle Scholar
  11. 11.
    Palikhe NS, Kim SH, Cho BY, Ye YM, Hur GY, Park HS (2008) Association of three sets of high-affinity IgE receptor (FcepsilonR1) polymorphisms with aspirin-intolerant asthma. Respir Med 102:1132–1139PubMedCrossRefGoogle Scholar
  12. 12.
    Potaczek DP, Sanak M, Mastalerz L, Milewski M, Gawlewicz-Mroczka A, Szczeklik A (2007) Genetic polymorphisms of the novel FCER1A gene region: relation to total serum IgE levels. Ann Allergy Asthma Immunol 98:500–501PubMedCrossRefGoogle Scholar
  13. 13.
    Juszczuk-Kubiak E, Flisikowski K, Wicińska K (2010) A new SNP in the 3′UTR region of the bovine calpain small subunit (CAPNS1) gene. Mol Biol Rep 37:473–476PubMedCrossRefGoogle Scholar
  14. 14.
    Wang J, Pitarque M, Ingelman-Sundberg M (2006) 3′-UTR polymorphism in the human CYP2A6 gene affects mRNA stability and enzyme expression. Biochem Biophys Res Commun 340:491–497PubMedCrossRefGoogle Scholar
  15. 15.
    Lahiri DK, Nurnberger JI Jr (1991) A rapid non-enzymatic method for the preparation of HMW DNA from blood for RFLP studies. Nucleic Acids Res 19:5444PubMedCrossRefGoogle Scholar
  16. 16.
    Falcón-Ramírez E, Casas-Avila L, Miranda A, Diez P, Castro C, Rubio J, Gómez R, Valdés-Flores M (2010) Sp1 polymorphism in collagen I α1 gene is associated with osteoporosis in lumbar spine of Mexican women. Mol Biol Rep 38:2987–2992PubMedCrossRefGoogle Scholar
  17. 17.
    Padilla-Gutiérrez JR, Valle Y, Vázquez-Del Mercado M, Maldonado M, Muñoz-Valle JF (2009) A new PCR-RFLP assay for −1123 G>C polymorphism in the PTPN22 gene: allele and genotype frequencies in a western Mexican population. Clin Chem Lab Med 47:491–493PubMedCrossRefGoogle Scholar
  18. 18.
    Juszczuk-Kubiak E, Wyszyńska-Koko J, Wicińska K, Rosochacki S (2008) A novel polymorphisms in intron 12 of the bovine calpastatin gene. Mol Biol Rep 35:29–35PubMedCrossRefGoogle Scholar
  19. 19.
    Tregouet DA, Garelle V (2007) A new JAVA interface implementation of THESIAS: testing haplotype effects in association studies. Bioinformatics 23:1038–1039PubMedCrossRefGoogle Scholar
  20. 20.
    Barrett JC, Fry B, Maller J, Daly MJ (2005) Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics 21:263–265PubMedCrossRefGoogle Scholar
  21. 21.
    Colgan DF, Manley JL (1997) Mechanism and regulation of mRNA polyadenylation. Genes Dev 11:2755–2766PubMedCrossRefGoogle Scholar
  22. 22.
    Beaudoing E, Freier S, Wyatt JR, Claverie JM, Gautheret D (2000) Patterns of variant polyadenylation signal usage in human genes. Genome Res 10:1001–1010PubMedCrossRefGoogle Scholar
  23. 23.
    Potaczek DP, Okumura K, Nishiyama C (2009) FCER1A genetic variability and serum IgE levels. Allergy 64:1383PubMedCrossRefGoogle Scholar
  24. 24.
    Wall JD, Pritchard JK (2003) Haplotype blocks and linkage disequilibrium in the human genome. Nat Rev Genet 4:587–597PubMedCrossRefGoogle Scholar
  25. 25.
    Shifman S, Kuypers J, Kokoris M, Yakir B, Darvasi A (2003) Linkage disequilibrium patterns of the human genome across populations. Hum Mol Genet 12:771–776PubMedCrossRefGoogle Scholar
  26. 26.
    Galanter J, Choudhry S, Eng C, Nazario S, Rodríguez-Santana JR, Casal J, Torres-Palacios A, Salas J, Chapela R, Watson HG, Meade K, LeNoir M, Rodríguez-Cintrón W, Avila PC, Burchard EG (2008) ORMDL3 gene is associated with asthma in three ethnically diverse populations. Am J Respir Crit Care Med 177:1194–1200PubMedCrossRefGoogle Scholar
  27. 27.
    Rana S, Waheed I (2009) Specific post-transcriptional inhibition of mRNA for ligand binding chain of IgE high affinity receptor. Mol Biol Rep 38:675–681PubMedCrossRefGoogle Scholar
  28. 28.
    Nishiyama C (2006) Molecular mechanism of allergy-related gene regulation and hematopoietic cell development by transcription factors. Biosci Biotechnol Biochem 70:1–9PubMedCrossRefGoogle Scholar

Copyright information

© Springer Science+Business Media B.V. 2011

Authors and Affiliations

  • Daniel P. Potaczek
    • 1
  • Maya Kamijo
    • 1
  • Mutsuko Hara
    • 1
  • Ko Okumura
    • 1
    • 2
  • Anetta Undas
    • 3
  • Chiharu Nishiyama
    • 1
    Email author
  1. 1.Atopy (Allergy) Research CenterJuntendo University School of MedicineTokyoJapan
  2. 2.Department of ImmunologyJuntendo University School of MedicineTokyoJapan
  3. 3.Institute of CardiologyJagiellonian University School of MedicineCracowPoland

Personalised recommendations