PMID- 15005725
OWN - NLM
STAT- MEDLINE
DCOM- 20040527
LR  - 20190901
IS  - 0954-7894 (Print)
IS  - 0954-7894 (Linking)
VI  - 34
IP  - 3
DP  - 2004 Mar
TI  - Association between polymorphisms in serine protease inhibitor, kazal type 5 and 
      asthma phenotypes in a large German population sample.
PG  - 340-5
AB  - BACKGROUND: Atopic diseases are characterized by immunoglobulin E (IgE)-mediated 
      immune responses towards common allergens, many of which are proteases. Recently 
      it has been suggested that a proteinase inhibitor gene, SPINK5, which is located 
      on chromosome 5q31, may play a role in the pathogenesis of atopic diseases. 
      OBJECTIVE: We investigated the association between the polymorphism G1258A 
      leading to a putative amino acid change (Glu420Lys) in serine protease inhibitor, 
      kazal type 5 (SPINK5) and phenotypes of atopic diseases in a large general 
      population sample of German children. METHODS: Parental questionnaires were used 
      and children underwent skin prick testing, pulmonary function testing and 
      bronchial challenge. Blood was collected for serum IgE measurements and DNA 
      extraction. In total, 1161 children were genotyped for the SPINK5 Glu420Lys 
      polymorphism and association studies were performed. RESULTS: A significant 
      association between SPINK5 420Lys and the development of asthma was observed (OR 
      1.77; 95%CI: 1.02-3.06, P=0.041 for 420Lys homocygotes). Atopic carriers of 
      SPINK5 420Lys showed an increased risk for asthma and asthma symptoms (OR 2.06; 
      95%CI: 1.01-4.20, P=0.047). When children with a combination of asthma and atopic 
      dermatitis were compared with normal controls, the SPINK5 420Lys genotype was 
      more prevalent in the disease group (OR 4.56; 95%CI: 1.370-15.12, P=0.007). No 
      association between SPINK5 420Lys genotypes and total serum IgE levels, skin 
      prick test (SPT) reactivity or atopic dermatitis was observed. CONCLUSION: These 
      results suggest that SPINK5 Glu420Lys polymorphism may be associated with certain 
      asthma phenotypes characterized by the concomitant expression of asthma and 
      atopic dermatitis or SPT reactivity.
FAU - Kabesch, M
AU  - Kabesch M
AD  - University Children's Hospital Munich, Munich, Germany. 
      Michael.Kabesch@kk-i.med.uni-muenchen.de
FAU - Carr, D
AU  - Carr D
FAU - Weiland, S K
AU  - Weiland SK
FAU - von Mutius, E
AU  - von Mutius E
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - England
TA  - Clin Exp Allergy
JT  - Clinical and experimental allergy : journal of the British Society for Allergy 
      and Clinical Immunology
JID - 8906443
RN  - 0 (Carrier Proteins)
RN  - 0 (Immunoglobulin A)
RN  - 0 (Proteinase Inhibitory Proteins, Secretory)
RN  - 0 (SPINK5 protein, human)
RN  - 0 (Serine Peptidase Inhibitor Kazal-Type 5)
SB  - IM
CIN - Clin Exp Allergy. 2004 Mar;34(3):325-7. PMID: 15005722
MH  - Asthma/epidemiology/*genetics/immunology
MH  - Bronchial Provocation Tests
MH  - Carrier Proteins/*genetics
MH  - Child
MH  - Cross-Sectional Studies
MH  - Female
MH  - Germany/epidemiology
MH  - Humans
MH  - Immunoglobulin A/blood
MH  - Male
MH  - Phenotype
MH  - *Polymorphism, Genetic
MH  - Prevalence
MH  - Proteinase Inhibitory Proteins, Secretory
MH  - Quantitative Trait Loci
MH  - Respiratory Function Tests
MH  - Serine Peptidase Inhibitor Kazal-Type 5
MH  - Skin Tests
EDAT- 2004/03/10 05:00
MHDA- 2004/05/28 05:00
CRDT- 2004/03/10 05:00
PHST- 2004/03/10 05:00 [pubmed]
PHST- 2004/05/28 05:00 [medline]
PHST- 2004/03/10 05:00 [entrez]
AID - 1860 [pii]
AID - 10.1111/j.1365-2222.2004.01860.x [doi]
PST - ppublish
SO  - Clin Exp Allergy. 2004 Mar;34(3):340-5. doi: 10.1111/j.1365-2222.2004.01860.x.