Interaction of functional FCER2 promoter polymorphism and phenotype-associated haplotypes

D P Potaczek; Q-H Wang; M Sanak; T Tokura; H Matsuda; S Dziedzina; N Nakano; M Hara; H Ogawa; A Szczeklik; K Okumura; C Nishiyama

doi:10.1111/j.1399-0039.2009.01360.x

Interaction of functional FCER2 promoter polymorphism and phenotype-associated haplotypes

Tissue Antigens. 2009 Dec;74(6):534-8. doi: 10.1111/j.1399-0039.2009.01360.x. Epub 2009 Oct 21.

Authors

D P Potaczek¹, Q-H Wang, M Sanak, T Tokura, H Matsuda, S Dziedzina, N Nakano, M Hara, H Ogawa, A Szczeklik, K Okumura, C Nishiyama

Affiliation

¹ Atopy (Allergy) Research Center, Juntendo University School of Medicine, Tokyo, Japan.

PMID: 19845913
DOI: 10.1111/j.1399-0039.2009.01360.x

Abstract

Low-affinity IgE receptor gene (FCER2) rs3760687 polymorphism was found to be associated with differential binding affinity of transcription factors Sp1 and Sp3 leading to altered transcriptional activity. Haplotypic interaction of functional FCER2 polymorphisms (rs28364072, rs2228137 and rs3760687) might potentially provide a background for genotype-phenotype associations previously observed for some rather non-functional FCER2 variants.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Binding Sites
Haplotypes / genetics*
Humans
Lectins, C-Type / genetics*
Lectins, C-Type / metabolism
Phenotype*
Polymorphism, Genetic*
Promoter Regions, Genetic*
Receptors, IgE / genetics*
Receptors, IgE / metabolism
Sp1 Transcription Factor / genetics
Sp1 Transcription Factor / metabolism
Sp3 Transcription Factor / genetics
Sp3 Transcription Factor / metabolism

Substances

FCER2 protein, human
Lectins, C-Type
Receptors, IgE
Sp1 Transcription Factor
Sp3 Transcription Factor