Pyrosequencing for classification of human FcγRIIIA allotypes: a comparison with PCR-based techniques

Mol Diagn Ther. 2014 Dec;18(6):665-73. doi: 10.1007/s40291-014-0120-5.

Abstract

Background: Surface-specific antigens expressed by hematopoietic cells are attractive targets for antibody-mediated immunotherapy. Monoclonal antibodies (mAbs) involve various mechanisms to eliminate target cells, including antibody-dependent cellular cytotoxicity (ADCC)- and phagocytosis (ADCP)-mediated killing through natural killer (NK) and macrophage effector cells bearing FcγRIIIA (CD16). The clinical efficacy of ADCC is particularly impacted by a single nucleotide polymorphism (SNP) found in the gene encoding FcγRIIIA (FCGR3A), which generates a variable distribution of the 158 V/V, F/V or F/F CD16 allotypes (F = phenylalanine, V = valine) in the normal human population. Currently, most patients are not screened for CD16 allotypes, creating the potential to include in their treatment a mAb-based therapy that may have limited benefit. Therefore, it is important to identify CD16 allotypes when considering mAb therapies that require ADCC/ADCP.

Objective: The objective of this study was to develop a reliable PCR-based assay for classification of human FcγRIIIA allotypes.

Methods: We studied 42 normal human subjects for the incidence of FcγRIIIA-158 polymorphisms using comparative molecular approaches.

Results: The results of our study showed 100% accuracy in genotyping by pyrosequencing. In contrast, nested PCR-based allele-specific restriction assay and quantitative PCR techniques proved to be relatively less sensitive and less specific in distinguishing variant genotypes.

Conclusion: Since the efficacy of the mAb-based targeted immunotherapy may be highly dependent upon the CD16 polymorphism in a given individual, we recommend pyrosequencing for CD16 allotype testing.

MeSH terms

  • Alleles
  • Codon / genetics
  • GPI-Linked Proteins / blood
  • GPI-Linked Proteins / genetics
  • Genotype
  • Healthy Volunteers
  • High-Throughput Nucleotide Sequencing / methods*
  • Humans
  • Polymerase Chain Reaction / methods*
  • Real-Time Polymerase Chain Reaction / methods*
  • Receptors, IgG / blood
  • Receptors, IgG / genetics*

Substances

  • Codon
  • FCGR3A protein, human
  • FCGR3B protein, human
  • GPI-Linked Proteins
  • Receptors, IgG