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Conservation of FceRI gamma chain coding region in normals and in SLE patients

J C Edberg

A W Gibson

Division of Clinical Immunology and Rheumatology, Departments of Medicine and Microbiology, University of Alabama at Birmingham, Birmingham, Alabama, USA

R P Kimberly

Division of Clinical Immunology and Rheumatology, Departments of Medicine and Microbiology, University of Alabama at Birmingham, Birmingham, Alabama, USA; THT 429, 1530 3rd Avenue South, Birmingham, AL 35294-0006, USA rpk{at}uab.edu

High-frequency single nucleotide polymorphism (SNP) alleles are useful in mapping genes responsible for disease susceptibility. Functionally, Fcg receptors (FcgR) have been implicated in autoimmune disease, and the gene encoding the signaling element for several FcgR, Fc-epsilon-receptor gamma-chain (FceRIg), has several SNPs in the immunoreceptor tyrosine activation motif (ITAM) recorded in GenBank. Direct sequencing of the FceRIg coding region found potentially polymorphic sites in the 50?30 direction in control donors, which were not confirmed in the reverse direction (n 66), and further exploration of 80 SLE patients revealed no non-synonymous SNPs. One normal donor was heterozygous for a non-synonymous SNP at nt 38 which changed the fifth codon from valine (GTG) to methionine (ATG). Although the EST databases suggest candidate SNPs, insertions and deletions, these appear to be artifacts, most probably due to secondary structure. The coding region of FceRIg shows a remarkable absence of nucleotide diversity. Either as yet unidentified regulatory elements of FceRIg or other genes in the region of human chromosome 1q23 are likely to be systemic lupus erythematosus disease susceptibility and severity genes.

Key Words: gamma chain (FceRIg) • Fc receptor • systemic lupus erythematosus • single nucleotide polymorphism

Lupus, Vol. 11, No. 1, 42-45 (2002)
DOI: 10.1191/0961203302lu145oa


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