Abstract | BACKGROUND: OBJECTIVE: We wanted to test for linkage of the chromosomal region 12q13-24 with the atopic phenotype without regard to clinical manifestations. Furthermore we screened for common nucleotide polymorphisms in candidate genes to enable association studies. METHODS: We employed sib-pair linkage analysis and transmission disequilibrium testing with regard to four highly polymorphic microsatellite markers in 12q13-24 in atopic nuclear families. In addition, we looked for polymorphisms in the genes coding for SCF, LTA4H, TR2 and STAT6 performing SSCP-analysis and direct genomic sequencing. RESULTS: We found no evidence for linkage of the genomic region 12q13-24 to elevated total serum IgE levels, specific sensitization to common inhalant allergens or atopy. Furthermore we identified three nucleotide polymorphisms including one common variant in the gene coding for SCF. No association of this polymorphism and any of the atopic phenotypes was seen. CONCLUSION: We conclude from our data that genes in the chromosomal region 12q13-24 and in particular SCF are unlikely to exert a major effect on the induction of the atopic phenotype in our Caucasian population. However, we did not focus on the asthmatic and thereby inflammatory aspect of atopy which might explain these results in contradiction to previous studies.
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Authors | A Heinzmann, P Grotherr, S P Jerkic, A Lichtenberg, S Braun, S Kruse, J Forster, J Kuehr, K A Deichmann |
Journal | Clinical and experimental allergy : journal of the British Society for Allergy and Clinical Immunology
(Clin Exp Allergy)
Vol. 30
Issue 11
Pg. 1555-61
(Nov 2000)
ISSN: 0954-7894 [Print] England |
PMID | 11069563
(Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
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Chemical References |
- DNA, Satellite
- Receptors, Thyroid Hormone
- STAT6 Transcription Factor
- STAT6 protein, human
- Stem Cell Factor
- Trans-Activators
- Immunoglobulin E
- Epoxide Hydrolases
- leukotriene A4 hydrolase
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Topics |
- Chromosomes, Human, Pair 12
- DNA, Satellite
(analysis)
- Epoxide Hydrolases
(genetics)
- Gene Frequency
- Genetic Linkage
- Humans
- Hypersensitivity, Immediate
(genetics, immunology)
- Immunoglobulin E
(analysis)
- Nuclear Family
- Polymorphism, Genetic
- Receptors, Thyroid Hormone
(genetics)
- STAT6 Transcription Factor
- Stem Cell Factor
(genetics)
- Trans-Activators
(genetics)
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