title: A comparative search for human FcεRIα gene (FCER1A) 3'-UTR polymorphisms in Japanese and Polish populations.
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.
authors: Atopy (Allergy) Research Center, Juntendo University School of Medicine, 2-1-1 Hongo, Bunkyo-ku, 113-8421, Tokyo, Japan.
authors: Daniel P
authors: DP
authors: Potaczek
authors: Maya
authors: M
authors: Kamijo
authors: Mutsuko
authors: M
authors: Hara
authors: Ko
authors: K
authors: Okumura
authors: Anetta
authors: A
authors: Undas
authors: Chiharu
authors: C
authors: Nishiyama
mesh_terms: D020413:3' Untranslated Regions / Q000235:genetics*; D044466:Asian People / Q000235:genetics*; D005787:Gene Frequency / Q000235:genetics; D005828:Genetics, Population; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D007564:Japan; D015810:Linkage Disequilibrium / Q000235:genetics; D011044:Poland; D011110:Polymorphism, Genetic; D012333:RNA, Messenger / Q000235:genetics / Q000378:metabolism; D017455:Receptors, IgE / Q000235:genetics*; D044465:White People / Q000235:genetics*
chemical_list: D020413:3' Untranslated Regions; C543355:FcepsilonRI alpha-chain, human; D012333:RNA, Messenger; D017455:Receptors, IgE