PMID- 14551605
OWN - NLM
STAT- MEDLINE
DCOM- 20040702
LR  - 20171116
IS  - 1466-4879 (Print)
IS  - 1466-4879 (Linking)
VI  - 4
IP  - 7
DP  - 2003 Oct
TI  - Association between polymorphisms in the SPINK5 gene and atopic dermatitis in the 
      Japanese.
PG  - 515-7
AB  - Atopy, which is characterized by increased levels of immunoglobulin E (IgE) 
      against common environmental allergens, is considered the strongest predisposing 
      factor for asthma and atopic dermatitis (AD). Mutations in the gene encoding 
      serine protease inhibitor Kazal-type 5 (SPINK5) are responsible for Netherton 
      syndrome, a rare skin disorder characterized by greatly elevated IgE levels with 
      atopic manifestations. A recent study of Caucasian AD families showed that 
      maternally derived alleles of the SPINK5 gene are associated with development of 
      AD and asthma, suggesting the parent-of-origin effect for the development of 
      atopic diseases in the SPINK5 gene. We studied the possible association of the 
      SPINK5 gene for the development of atopic diseases by determining the genotypes 
      of five polymorphisms in a Japanese population. Ttransmission disequilibrium 
      tests revealed an association of SPINK5 polymorphisms with AD but not with 
      asthma. Our data indicate that the SPINK5 gene is associated with AD across 
      ethnicities.
FAU - Nishio, Y
AU  - Nishio Y
AD  - Department of Medical Genetics, Institute of Basic Medical Sciences, University 
      of Tsukuba, Tsukuba, Japan.
FAU - Noguchi, E
AU  - Noguchi E
FAU - Shibasaki, M
AU  - Shibasaki M
FAU - Kamioka, M
AU  - Kamioka M
FAU - Ichikawa, E
AU  - Ichikawa E
FAU - Ichikawa, K
AU  - Ichikawa K
FAU - Umebayashi, Y
AU  - Umebayashi Y
FAU - Otsuka, F
AU  - Otsuka F
FAU - Arinami, T
AU  - Arinami T
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - England
TA  - Genes Immun
JT  - Genes and immunity
JID - 100953417
RN  - 0 (Carrier Proteins)
RN  - 0 (Proteinase Inhibitory Proteins, Secretory)
RN  - 0 (SPINK5 protein, human)
RN  - 0 (Serine Peptidase Inhibitor Kazal-Type 5)
SB  - IM
MH  - Carrier Proteins/*genetics
MH  - Dermatitis, Atopic/*genetics
MH  - Genotype
MH  - Humans
MH  - Japan
MH  - Linkage Disequilibrium
MH  - Mutation
MH  - *Polymorphism, Genetic
MH  - Proteinase Inhibitory Proteins, Secretory
MH  - Serine Peptidase Inhibitor Kazal-Type 5
EDAT- 2003/10/11 05:00
MHDA- 2004/07/03 05:00
CRDT- 2003/10/11 05:00
PHST- 2003/10/11 05:00 [pubmed]
PHST- 2004/07/03 05:00 [medline]
PHST- 2003/10/11 05:00 [entrez]
AID - 6363889 [pii]
AID - 10.1038/sj.gene.6363889 [doi]
PST - ppublish
SO  - Genes Immun. 2003 Oct;4(7):515-7. doi: 10.1038/sj.gene.6363889.