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A comparative search for human FcεRIα gene (FCER1A) 3'-UTR polymorphisms in Japanese and Polish populations.
MedLine Citation:
PMID:  21725845     Owner:  NLM     Status:  Publisher    
Abstract/OtherAbstract:
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.
Authors:
Daniel P Potaczek; Maya Kamijo; Mutsuko Hara; Ko Okumura; Anetta Undas; Chiharu Nishiyama
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2011-7-3
Journal Detail:
Title:  Molecular biology reports     Volume:  -     ISSN:  1573-4978     ISO Abbreviation:  -     Publication Date:  2011 Jul 
Date Detail:
Created Date:  2011-7-4     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0403234     Medline TA:  Mol Biol Rep     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Affiliation:
Atopy (Allergy) Research Center, Juntendo University School of Medicine, 2-1-1 Hongo, Bunkyo-ku, 113-8421, Tokyo, Japan.
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