PMID- 18521703
OWN - NLM
STAT- MEDLINE
DCOM- 20080910
LR  - 20221207
IS  - 1434-5161 (Print)
IS  - 1434-5161 (Linking)
VI  - 53
IP  - 7
DP  - 2008
TI  - Filaggrin null mutations are associated with atopic dermatitis and elevated 
      levels of IgE in the Japanese population: a family and case-control study.
PG  - 615
LID - 10.1007/s10038-008-0293-z [doi]
AB  - Filaggrin (FLG) plays an important role in the barrier function of the skin. 
      Several loss-of-function mutations in the FLG gene have been identified in 
      patients with ichthyosis vulgaris, and these null mutations are associated with 
      atopic dermatitis (AD) development. In this study, we examined tag single 
      nucleotide polymorphisms (tSNPs) and null mutations in FLG for possible 
      associations with AD and atopic phenotypes in a Japanese population. Transmission 
      disequilibrium test of 105 AD families showed that the null allele of the S2554X 
      variant of FLG tended to be overtransmitted to AD-affected offspring; however, 
      the P value did not reach statistical significance. In a case-control comparison 
      of 376 AD cases and 923 nonallergic controls, the null allele of S2554X was 
      significantly associated with AD (P = 0.0012), and the association was 
      strengthened in subjects with AD alone (P = 0.000024). We found that 3321delA and 
      S2554X were also associated with elevated levels of immunoglobulin E (IgE). 
      Combined null mutation carriers were observed more in AD patients and in subjects 
      with high IgE than in control subjects. The combined P value for the family and 
      case-control data was significant for the S2554X and combined null mutations. Our 
      data further support the importance of FLG in AD development.
FAU - Enomoto, Hisako
AU  - Enomoto H
AD  - Department of Medical Genetics, Graduate School of Comprehensive Human Sciences, 
      University of Tsukuba, 1-1-1 Tennodai, Tsukuba, Ibaraki, Japan.
AD  - Department of Dermatology, Graduate School of Comprehensive Human Sciences, 
      University of Tsukuba, Tsukuba, Ibaraki, Japan.
FAU - Hirata, Kenji
AU  - Hirata K
AD  - Department of Medical Genetics, Graduate School of Comprehensive Human Sciences, 
      University of Tsukuba, 1-1-1 Tennodai, Tsukuba, Ibaraki, Japan.
FAU - Otsuka, Kenta
AU  - Otsuka K
AD  - Department of Medical Genetics, Graduate School of Comprehensive Human Sciences, 
      University of Tsukuba, 1-1-1 Tennodai, Tsukuba, Ibaraki, Japan.
FAU - Kawai, Toshiharu
AU  - Kawai T
AD  - Department of Medical Genetics, Graduate School of Comprehensive Human Sciences, 
      University of Tsukuba, 1-1-1 Tennodai, Tsukuba, Ibaraki, Japan.
FAU - Takahashi, Takenori
AU  - Takahashi T
AD  - Department of Dermatology, Graduate School of Comprehensive Human Sciences, 
      University of Tsukuba, Tsukuba, Ibaraki, Japan.
FAU - Hirota, Tomomitsu
AU  - Hirota T
AD  - Laboratory of Genetics of Allergic Disease, RIKEN SNP Research Center, Yokohama, 
      Japan.
FAU - Suzuki, Yoichi
AU  - Suzuki Y
AD  - Department of Public Health, Chiba University Graduate School of Medicine, Chiba, 
      Japan.
FAU - Tamari, Mayumi
AU  - Tamari M
AD  - Laboratory of Genetics of Allergic Disease, RIKEN SNP Research Center, Yokohama, 
      Japan.
FAU - Otsuka, Fujio
AU  - Otsuka F
AD  - Department of Dermatology, Graduate School of Comprehensive Human Sciences, 
      University of Tsukuba, Tsukuba, Ibaraki, Japan.
FAU - Fujieda, Shigeharu
AU  - Fujieda S
AD  - Departments of Otorhinolaryngology and Immunology, University of Fukui Faculty of 
      Medical Sciences, Fukui, Japan.
FAU - Arinami, Tadao
AU  - Arinami T
AD  - Department of Medical Genetics, Graduate School of Comprehensive Human Sciences, 
      University of Tsukuba, 1-1-1 Tennodai, Tsukuba, Ibaraki, Japan.
FAU - Noguchi, Emiko
AU  - Noguchi E
AD  - Department of Medical Genetics, Graduate School of Comprehensive Human Sciences, 
      University of Tsukuba, 1-1-1 Tennodai, Tsukuba, Ibaraki, Japan. 
      enoguchi@md.tsukuba.ac.jp.
LA  - eng
PT  - Comparative Study
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20080603
PL  - England
TA  - J Hum Genet
JT  - Journal of human genetics
JID - 9808008
RN  - 0 (Codon, Nonsense)
RN  - 0 (FLG protein, human)
RN  - 0 (Filaggrin Proteins)
RN  - 0 (Intermediate Filament Proteins)
RN  - 37341-29-0 (Immunoglobulin E)
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - Alleles
MH  - Asian People/genetics
MH  - Case-Control Studies
MH  - Child
MH  - Child, Preschool
MH  - Chronic Disease
MH  - Codon, Nonsense
MH  - Dermatitis, Atopic/*genetics/immunology/metabolism
MH  - Filaggrin Proteins
MH  - Humans
MH  - Immunoglobulin E/*biosynthesis/blood
MH  - Infant
MH  - Intermediate Filament Proteins/deficiency/*genetics/physiology
MH  - Middle Aged
MH  - Mutation/*genetics
EDAT- 2008/06/04 09:00
MHDA- 2008/09/11 09:00
CRDT- 2008/06/04 09:00
PHST- 2007/12/24 00:00 [received]
PHST- 2008/03/17 00:00 [accepted]
PHST- 2008/06/04 09:00 [pubmed]
PHST- 2008/09/11 09:00 [medline]
PHST- 2008/06/04 09:00 [entrez]
AID - 10.1007/s10038-008-0293-z [pii]
AID - 10.1007/s10038-008-0293-z [doi]
PST - ppublish
SO  - J Hum Genet. 2008;53(7):615. doi: 10.1007/s10038-008-0293-z. Epub 2008 Jun 3.