The Genotype and Phenotype (GaP) registry: a living biobank for the analysis of quantitative traits

Immunol Res. 2015 Dec;63(1-3):107-12. doi: 10.1007/s12026-015-8711-8.

Abstract

We describe the development of the Genotype and Phenotype (GaP) Registry, a living biobank of normal volunteers who are genotyped for genetic markers related to human disease. Participants in the GaP can be recalled for hypothesis driven study of disease associated genetic variants. The GaP has facilitated functional studies of several autoimmune disease associated loci including Csk, Blk, PDRM1 (Blimp-1) and PTPN22. It is likely that expansion of such living biobank registries will play an important role in studying and understanding the function of disease associated alleles in complex disease.

Keywords: Autoimmune disease; Biorepository; Endophenotype; GWAS.

Publication types

  • Review

MeSH terms

  • Autoimmune Diseases / genetics*
  • Biological Specimen Banks
  • CSK Tyrosine-Protein Kinase
  • Genetic Association Studies
  • Genetic Predisposition to Disease
  • Genotype
  • Humans
  • MicroRNAs / genetics
  • MicroRNAs / metabolism
  • Phenotype
  • Polymorphism, Genetic
  • Positive Regulatory Domain I-Binding Factor 1
  • Protein Tyrosine Phosphatase, Non-Receptor Type 22 / genetics
  • Quantitative Trait, Heritable*
  • Registries*
  • Repressor Proteins / genetics
  • src-Family Kinases / genetics

Substances

  • MicroRNAs
  • Repressor Proteins
  • PRDM1 protein, human
  • Positive Regulatory Domain I-Binding Factor 1
  • BLK protein, human
  • CSK Tyrosine-Protein Kinase
  • src-Family Kinases
  • CSK protein, human
  • PTPN22 protein, human
  • Protein Tyrosine Phosphatase, Non-Receptor Type 22