RGD Reference Report - Association study of mast cell chymase polymorphisms with atopy. - Rat Genome Database

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Association study of mast cell chymase polymorphisms with atopy.

Authors: Weidinger, S  Rummler, L  Klopp, N  Wagenpfeil, S  Baurecht, HJ  Fischer, G  Holle, R  Gauger, A  Schafer, T  Jakob, T  Ollert, M  Behrendt, H  Wichmann, HE  Ring, J  Illig, T 
Citation: Weidinger S, etal., Allergy. 2005 Oct;60(10):1256-61.
RGD ID: 1625394
Pubmed: PMID:16134991   (View Abstract at PubMed)
DOI: DOI:10.1111/j.1398-9995.2005.00879.x   (Journal Full-text)

BACKGROUND: Atopic disorders are the result of complex interactions between genetic and environmental factors. Associations analyses between the promoter polymorphism rs1800875 in the mast cell chymase gene (CMA1) and atopy-related phenotypes have yielded inconsistent results. METHODS: We sequenced the CMA1 locus in 24 unrelated healthy individuals with serum IgE levels <50% percentile and 24 individuals with atopic eczema and serum IgE levels >90% percentile. Seven CMA1 single nucleotide polymorphisms (SNPs) were evaluated for evidence of associations with atopic phenotypes within a large population of German adults (n = 1875). Subjects were phenotyped by standardized questionnaires and interviews, skin prick testing and serum IgE measurements. Genotyping was performed using MALDI-TOF MS (Matrix-Assisted Laser Desorption Ionization-Time of Flight mass spectrometry). RESULTS: Promoter polymorphism rs1800875 was significantly associated with atopic eczema. No associations between any other single SNP and atopic phenotypes could be detected. Haplotype reconstruction revealed four of 128 possible haplotypes reaching estimated frequencies of 3% or more. Two of these haplotypes showed a borderline-significant association with atopic eczema, which did not remain significant after correction for multiple testing. CONCLUSIONS: Results confirm previous observations of a significant association between the CMA1 promoter polymorphism rs1800875 and atopic eczema, but not with serum IgE levels, and support the hypothesis that CMA1 serves as candidate gene for atopic eczema.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
atopic dermatitis  IAGP 1625394DNA:polymorphism:5' utr:g.-1903G>A rs1800875 (human)RGD 
atopic dermatitis  ISOCMA1 (Homo sapiens)1625394; 1625394DNA:polymorphism:5' utr:g.-1903G>A rs1800875 (human)RGD 

Objects Annotated

Genes (Rattus norvegicus)
Cma1  (chymase 1)

Genes (Mus musculus)
Cma1  (chymase 1, mast cell)

Genes (Homo sapiens)
CMA1  (chymase 1)


Additional Information