PMID- 25007884
OWN - NLM
STAT- MEDLINE
DCOM- 20150413
LR  - 20211021
IS  - 1435-232X (Electronic)
IS  - 1434-5161 (Linking)
VI  - 59
IP  - 9
DP  - 2014 Sep
TI  - Influence of MILR1 promoter polymorphism on expression levels and the phenotype 
      of atopy.
PG  - 480-3
LID - 10.1038/jhg.2014.57 [doi]
AB  - The recently identified cell surface immunoreceptor MILR1 (mast cell 
      immunoglobulin-like receptor 1; synonyms, Allergin-1) has been shown to suppress 
      immunoglobulin E (IgE)-mediated, mast cell-dependent responses in both mice and 
      humans. We performed a mutation search of MILR1 together with a genetic 
      association study to determine whether polymorphisms in MILR1 are associated with 
      atopy in human. Mutation screening of MILR1 was performed using DNA from 146 
      unrelated Japanese. Genotyping of the identified polymorphisms was done with 1505 
      individuals from the general Japanese adult population. Atopy, as defined by 
      positive responses for specific IgEs against at least one of the 26 common 
      allergens, was evaluated using MAST-26. Five polymorphisms (rs6504230, 
      c.-170_-166delAGGAA, rs8071835, rs143526766 and rs12936887) and two rare missense 
      variants (Val273Ala and Leu311Val) were identified by mutation screening. The C 
      allele of rs6504230 had protective effects against atopy (P=0.002). A luciferase 
      reporter assay using the promoter region of MILR1 revealed that the C allele of 
      rs6504230 was associated with increased expression of MILR1, which was in 
      accordance with the results of expression quantitative trait loci analysis using 
      human leukocytes. Our data indicates that the rs6504230 polymorphism affects 
      MILR1 expression levels in humans, leading to a susceptibility to producing 
      specific IgE antibodies against common allergens.
FAU - Nanatsue, Kentaro
AU  - Nanatsue K
AD  - Department of Medical Genetics, Faculty of Medicine, University of Tsukuba, 
      Tsukuba City, Ibaraki, Japan.
FAU - Ninomiya, Takahiro
AU  - Ninomiya T
AD  - Department of Medical Genetics, Faculty of Medicine, University of Tsukuba, 
      Tsukuba City, Ibaraki, Japan.
FAU - Tsuchiya, Mio
AU  - Tsuchiya M
AD  - Department of Medical Genetics, Faculty of Medicine, University of Tsukuba, 
      Tsukuba City, Ibaraki, Japan.
FAU - Tahara-Hanaoka, Satoko
AU  - Tahara-Hanaoka S
AD  - 1] Department of Immunology, Faculty of Medicine, University of Tsukuba, Tsukuba 
      City, Ibaraki, Japan [2] Japan Science and Technology Agency (JST), Core Research 
      for Evolutional Science and Technology (CREST), Tokyo, Japan.
FAU - Shibuya, Akira
AU  - Shibuya A
AD  - 1] Department of Immunology, Faculty of Medicine, University of Tsukuba, Tsukuba 
      City, Ibaraki, Japan [2] Japan Science and Technology Agency (JST), Core Research 
      for Evolutional Science and Technology (CREST), Tokyo, Japan.
FAU - Masuko, Hironori
AU  - Masuko H
AD  - Department of Respiratory Medicine, Faculty of Medicine, University of Tsukuba, 
      Tsukuba City, Ibaraki, Japan.
FAU - Sakamoto, Toru
AU  - Sakamoto T
AD  - Department of Respiratory Medicine, Faculty of Medicine, University of Tsukuba, 
      Tsukuba City, Ibaraki, Japan.
FAU - Hizawa, Nobuyuki
AU  - Hizawa N
AD  - Department of Respiratory Medicine, Faculty of Medicine, University of Tsukuba, 
      Tsukuba City, Ibaraki, Japan.
FAU - Arinami, Tadao
AU  - Arinami T
AD  - Department of Medical Genetics, Faculty of Medicine, University of Tsukuba, 
      Tsukuba City, Ibaraki, Japan.
FAU - Noguchi, Emiko
AU  - Noguchi E
AD  - 1] Department of Medical Genetics, Faculty of Medicine, University of Tsukuba, 
      Tsukuba City, Ibaraki, Japan [2] Japan Science and Technology Agency (JST), Core 
      Research for Evolutional Science and Technology (CREST), Tokyo, Japan.
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20140710
PL  - England
TA  - J Hum Genet
JT  - Journal of human genetics
JID - 9808008
RN  - 0 (Allergens)
RN  - 0 (MILR1 protein, human)
RN  - 0 (Receptors, Immunologic)
RN  - 37341-29-0 (Immunoglobulin E)
SB  - IM
MH  - Adult
MH  - Aged
MH  - Aged, 80 and over
MH  - Allergens/immunology
MH  - Case-Control Studies
MH  - Cross-Sectional Studies
MH  - DNA Mutational Analysis
MH  - *Gene Expression
MH  - Gene Frequency
MH  - Genotype
MH  - HEK293 Cells
MH  - Humans
MH  - Hypersensitivity, Immediate/*genetics/immunology
MH  - Immunoglobulin E/immunology
MH  - K562 Cells
MH  - Male
MH  - Middle Aged
MH  - Mutation, Missense
MH  - Phenotype
MH  - *Polymorphism, Single Nucleotide
MH  - Promoter Regions, Genetic/*genetics
MH  - Receptors, Immunologic/*genetics/immunology
MH  - Young Adult
EDAT- 2014/07/11 06:00
MHDA- 2015/04/14 06:00
CRDT- 2014/07/11 06:00
PHST- 2014/02/06 00:00 [received]
PHST- 2014/05/21 00:00 [revised]
PHST- 2014/06/16 00:00 [accepted]
PHST- 2014/07/11 06:00 [entrez]
PHST- 2014/07/11 06:00 [pubmed]
PHST- 2015/04/14 06:00 [medline]
AID - jhg201457 [pii]
AID - 10.1038/jhg.2014.57 [doi]
PST - ppublish
SO  - J Hum Genet. 2014 Sep;59(9):480-3. doi: 10.1038/jhg.2014.57. Epub 2014 Jul 10.