PMID- 21725845
OWN - NLM
STAT- MEDLINE
DCOM- 20120628
LR  - 20221207
IS  - 1573-4978 (Electronic)
IS  - 0301-4851 (Linking)
VI  - 39
IP  - 4
DP  - 2012 Apr
TI  - A comparative search for human FcepsilonRIalpha gene (FCER1A) 3'-UTR polymorphisms in 
      Japanese and Polish populations.
PG  - 3747-53
LID - 10.1007/s11033-011-1150-2 [doi]
AB  - The high affinity immunoglobulin E (IgE) receptor (FcepsilonRI) 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 FcepsilonRI alpha-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.
FAU - Potaczek, Daniel P
AU  - Potaczek DP
AD  - Atopy (Allergy) Research Center, Juntendo University School of Medicine, 2-1-1 
      Hongo, Bunkyo-ku, 113-8421, Tokyo, Japan.
FAU - Kamijo, Maya
AU  - Kamijo M
FAU - Hara, Mutsuko
AU  - Hara M
FAU - Okumura, Ko
AU  - Okumura K
FAU - Undas, Anetta
AU  - Undas A
FAU - Nishiyama, Chiharu
AU  - Nishiyama C
LA  - eng
PT  - Comparative Study
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20110703
PL  - Netherlands
TA  - Mol Biol Rep
JT  - Molecular biology reports
JID - 0403234
RN  - 0 (3' Untranslated Regions)
RN  - 0 (FcepsilonRI alpha-chain, human)
RN  - 0 (RNA, Messenger)
RN  - 0 (Receptors, IgE)
SB  - IM
MH  - 3' Untranslated Regions/*genetics
MH  - Asian People/*genetics
MH  - Gene Frequency/genetics
MH  - Genetics, Population
MH  - Haplotypes/genetics
MH  - Humans
MH  - Japan
MH  - Linkage Disequilibrium/genetics
MH  - Poland
MH  - *Polymorphism, Genetic
MH  - RNA, Messenger/genetics/metabolism
MH  - Receptors, IgE/*genetics
MH  - White People/*genetics
EDAT- 2011/07/05 06:00
MHDA- 2012/06/29 06:00
CRDT- 2011/07/05 06:00
PHST- 2010/04/13 00:00 [received]
PHST- 2011/06/24 00:00 [accepted]
PHST- 2011/07/05 06:00 [entrez]
PHST- 2011/07/05 06:00 [pubmed]
PHST- 2012/06/29 06:00 [medline]
AID - 10.1007/s11033-011-1150-2 [doi]
PST - ppublish
SO  - Mol Biol Rep. 2012 Apr;39(4):3747-53. doi: 10.1007/s11033-011-1150-2. Epub 2011 
      Jul 3.