STAT1 gene variations, IgE regulation and atopy.
BACKGROUND
Signal transducer and activator of transcription 1 (STAT1), an intracellular signal transducer and activator of transcription centrally involved in many inflammatory pathways, was recently suggested to play an important role in allergy related immune responses.


OBJECTIVE
Thus, we investigated the effect of polymorphisms in the STAT1 gene on the development of atopic sensitization and allergic diseases.


METHODS
Haplotype tagging single nucleotide polymorphisms (SNPs) previously described in the STAT1 gene were genotyped by matrix-assisted laser desorption/ionization time-of-flight mass spectrometry technology in a cross-sectional study population of 3099 German children recruited and phenotyped by the International Study of Asthma and Allergy in Childhood, phase II (ISAAC II). Effects of single SNPs and haplotypes were studied using SAS/Genetics and Haploview.


RESULTS
The polymorphism C39134A (rs3771300), located in a potentially cis acting regulatory element in STAT1 intron 24, was inversely related to atopy measured by skin prick test, total and specific serum IgE levels while no effect on atopic disease risk was observed.


CONCLUSIONS
Our results indicate that STAT1 SNP C39134A may protect from atopic sensitization. Because of its location in a highly conserved noncoding sequence near a putative GATA3 binding site, this polymorphism represents an interesting target for further studies.
Pinto
L A
LA
University Children's Hospital, Ludwig Maximilian's University Munich, Munich, Germany.
Steudemann
L
L
Depner
M
M
Klopp
N
N
Illig
T
T
Weiland
S K
SK
von Mutius
E
E
Kabesch
M
M
D002648:Child; D004742:Enhancer Elements, Genetic / Q000235:genetics*; D014644:Genetic Variation; D005858:Germany; D006239:Haplotypes; D006801:Humans; D006969:Hypersensitivity, Immediate / Q000235:genetics* / Q000276:immunology; D007073:Immunoglobulin E / Q000032:analysis / Q000097:blood*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D050794:STAT1 Transcription Factor / Q000235:genetics* / Q000378:metabolism
D050794:STAT1 Transcription Factor; C494079:STAT1 protein, human; D007073:Immunoglobulin E