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 Nishiyama
Article

Abstract

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.

Keywords

FCER1A FcεRI Haplotype Linkage disequilibrium Polymorphism 3′-UTR 

Notes

Acknowledgments

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)

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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
  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

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