title: The Genotype and Phenotype (GaP) registry: a living biobank for the analysis of quantitative traits.
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.
authors.affiliation: Robert S. Boas Center for Genomics and Human Genetics, The Feinstein Institute for Medical Research, 350 Community Drive, Manhasset, NY, 11030, USA. peterg@nshs.edu.
authors.forename: Peter K
authors.initials: PK
authors.lastname: Gregersen
authors.affiliation: Robert S. Boas Center for Genomics and Human Genetics, The Feinstein Institute for Medical Research, 350 Community Drive, Manhasset, NY, 11030, USA.
authors.forename: Gila
authors.initials: G
authors.lastname: Klein
authors.affiliation: Robert S. Boas Center for Genomics and Human Genetics, The Feinstein Institute for Medical Research, 350 Community Drive, Manhasset, NY, 11030, USA.
authors.forename: Mary
authors.initials: M
authors.lastname: Keogh
authors.affiliation: Robert S. Boas Center for Genomics and Human Genetics, The Feinstein Institute for Medical Research, 350 Community Drive, Manhasset, NY, 11030, USA.
authors.forename: Marlena
authors.initials: M
authors.lastname: Kern
authors.affiliation: Robert S. Boas Center for Genomics and Human Genetics, The Feinstein Institute for Medical Research, 350 Community Drive, Manhasset, NY, 11030, USA.
authors.forename: Margaret
authors.initials: M
authors.lastname: DeFranco
authors.affiliation: Robert S. Boas Center for Genomics and Human Genetics, The Feinstein Institute for Medical Research, 350 Community Drive, Manhasset, NY, 11030, USA.
authors.forename: Kim R
authors.initials: KR
authors.lastname: Simpfendorfer
authors.affiliation: Center for Autoimmune and Musculoskeletal Disease, The Feinstein Institute for Medical Research, Manhasset, NY, USA.
authors.forename: Sun Jung
authors.initials: SJ
authors.lastname: Kim
authors.affiliation: Center for Autoimmune and Musculoskeletal Disease, The Feinstein Institute for Medical Research, Manhasset, NY, USA.
authors.forename: Betty
authors.initials: B
authors.lastname: Diamond
mesh_terms: D001327:Autoimmune Diseases / Q000235:genetics*; D018070:Biological Specimen Banks; D000081247:CSK Tyrosine-Protein Kinase; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D035683:MicroRNAs / Q000235:genetics / Q000378:metabolism; D010641:Phenotype; D011110:Polymorphism, Genetic; D000074462:Positive Regulatory Domain I-Binding Factor 1; D054596:Protein Tyrosine Phosphatase, Non-Receptor Type 22 / Q000235:genetics; D019655:Quantitative Trait, Heritable; D012042:Registries; D012097:Repressor Proteins / Q000235:genetics; D019061:src-Family Kinases / Q000235:genetics
chemical_list: D035683:MicroRNAs; D012097:Repressor Proteins; C087042:PRDM1 protein, human; D000074462:Positive Regulatory Domain I-Binding Factor 1; C584409:BLK protein, human; D000081247:CSK Tyrosine-Protein Kinase; D019061:src-Family Kinases; C000631346:CSK protein, human; C516765:PTPN22 protein, human; D054596:Protein Tyrosine Phosphatase, Non-Receptor Type 22
keywords: Autoimmune disease; Biorepository; Endophenotype; GWAS