Variant Genotypes of the Low-Affinity Fcγ Receptors in Two Control Populations and a Review of Low-Affinity Fcγ Receptor Polymorphisms in Control and Disease Populations

作者: Thomas Lehrnbecher , Charles B. Foster , Shaoxian Zhu , Susan F. Leitman , Lynn R. Goldin

DOI: 10.1182/BLOOD.V94.12.4220

关键词:

摘要: Fcgamma-receptors (FcgammaR) provide a critical link between humoral and cellular immunity. The genes of the low-affinity receptors for IgG their isoforms, namely, FcgammaRIIa, FcgammaRIIb, FcgammaRIIIa, FcgammaRIIIb, SH-FcgammaRIIIb, are located in close proximity on chromosome 1q22. Variant alleles may differ biologic activity number studies have reported frequencies variant FcgammaR both disease control populations. No large study has evaluated possibility nonrandom distribution genotypes. We analyzed 395 normal individuals (172 African Americans [AA] 223 Caucasians [CA]) at following loci: including SH-FcgammaRIIIb. genotypic distributions FcgammaRIIIb conform to Hardy-Weinberg law each group. There was no strong evidence that combinations 2-locus genotypes 3 loci deviated from random these healthy SH-FcgammaRIIIb is underrepresented CA compared with AA (P < .0001) controls. A previously FcgammaRIIb not detected 70 individuals, indicating this allele, if it exists, very rare (<1%). In conclusion, we present data should serve as foundation interpretation association involving multiple FcgammaR.

参考文章(63)
I. E. Van Den Herik-Oudijk, N. V. Henriquez, P. J. A. Capel, J. G. J. Van De Winkel, N. A. C. Westerdaal, Functional analysis of human Fc gamma RII (CD32) isoforms expressed in B lymphocytes. Journal of Immunology. ,vol. 152, pp. 574- 585 ,(1994)
M R Clark, S B Clarkson, P A Ory, N Stollman, I M Goldstein, Molecular basis for a polymorphism involving Fc receptor II on human monocytes. Journal of Immunology. ,vol. 143, pp. 1731- 1734 ,(1989)
P W Parren, L A Aarden, P A Warmerdam, L C Boeije, J G van de Winkel, P J Capel, Characterization of IgG FcR-mediated proliferation of human T cells induced by mouse and human anti-CD3 monoclonal antibodies. Identification of a functional polymorphism to human IgG2 anti-CD3. Journal of Immunology. ,vol. 148, pp. 695- 701 ,(1992)
Xiao-Ming Jiang, Gow Arepally, Mortimer Poncz, Steven E. McKenzie, Rapid detection of the Fc gamma RIIA-H/R 131 ligand-binding polymorphism using an allele-specific restriction enzyme digestion (ASRED). Journal of Immunological Methods. ,vol. 199, pp. 55- 59 ,(1996) , 10.1016/S0022-1759(96)00164-0
P. A. M. Warmerdam, N. A. C. Westerdaal, A. Vlug, J. G. J. Van De Winkel, P. J. A. Capel, A single amino acid in the second Ig-like domain of the human Fc gamma receptor II is critical for human IgG2 binding. Journal of Immunology. ,vol. 147, pp. 1338- 1343 ,(1991)
ASTRID RASCU, ROLAND REPP, NOMDO A. C. WESTERDAAL, JOACHIM R. KALDEN, JAN G. J. WINKEL, Clinical relevance of Fc gamma receptor polymorphisms. Annals of the New York Academy of Sciences. ,vol. 815, pp. 282- 295 ,(1997) , 10.1111/J.1749-6632.1997.TB52070.X
A F Reilly, C F Norris, S Surrey, F J Bruchak, E F Rappaport, E Schwartz, S E McKenzie, Genetic diversity in human Fc receptor II for immunoglobulin G: Fc gamma receptor IIA ligand-binding polymorphism. Clinical and Vaccine Immunology. ,vol. 1, pp. 640- 644 ,(1994) , 10.1128/CDLI.1.6.640-644.1994
Raphaël Saffroy, Dominique Lasne, Gilles Chatellier, Martine Aiach, Francine Rendu, Christilla Bachelot-Loza, Importance of the FcgammaRIIa-Arg/His-131 polymorphism in heparin-induced thrombocytopenia diagnosis. Thrombosis and Haemostasis. ,vol. 79, pp. 523- 528 ,(1998) , 10.1055/S-0037-1614938
J C Long, R C Williams, M Urbanek, An E-M algorithm and testing strategy for multiple-locus haplotypes American Journal of Human Genetics. ,vol. 56, pp. 799- 810 ,(1995)