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

Gregersen PK1, Klein G2, Keogh M2, Kern M2, DeFranco M2, Simpfendorfer KR2, Kim SJ3, Diamond B3.

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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.