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

Gregersen, Peter K; Klein, Gila; Keogh, Mary; Kern, Marlena; DeFranco, Margaret; Simpfendorfer, Kim R; Kim, Sun Jung; Diamond, Betty

Gregersen, Peter K; Klein, Gila; Keogh, Mary; Kern, Marlena; DeFranco, Margaret; Simpfendorfer, Kim R; Kim, Sun Jung; Diamond, Betty.

Afiliación

Gregersen PK; 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.
Klein G; Robert S. Boas Center for Genomics and Human Genetics, The Feinstein Institute for Medical Research, 350 Community Drive, Manhasset, NY, 11030, USA.
Keogh M; Robert S. Boas Center for Genomics and Human Genetics, The Feinstein Institute for Medical Research, 350 Community Drive, Manhasset, NY, 11030, USA.
Kern M; Robert S. Boas Center for Genomics and Human Genetics, The Feinstein Institute for Medical Research, 350 Community Drive, Manhasset, NY, 11030, USA.
DeFranco M; Robert S. Boas Center for Genomics and Human Genetics, The Feinstein Institute for Medical Research, 350 Community Drive, Manhasset, NY, 11030, USA.
Simpfendorfer KR; Robert S. Boas Center for Genomics and Human Genetics, The Feinstein Institute for Medical Research, 350 Community Drive, Manhasset, NY, 11030, USA.
Kim SJ; Center for Autoimmune and Musculoskeletal Disease, The Feinstein Institute for Medical Research, Manhasset, NY, USA.
Diamond B; Center for Autoimmune and Musculoskeletal Disease, The Feinstein Institute for Medical Research, Manhasset, NY, USA.

Immunol Res ; 63(1-3): 107-12, 2015 Dec.

Article en En | MEDLINE | ID: mdl-26467974

ABSTRACT

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.

Asunto(s)

Enfermedades Autoinmunes/genética; Carácter Cuantitativo Heredable; Sistema de Registros; Bancos de Muestras Biológicas; Proteína Tirosina Quinasa CSK; Estudios de Asociación Genética; Predisposición Genética a la Enfermedad; Genotipo; Humanos; MicroARNs/genética; MicroARNs/metabolismo; Fenotipo; Polimorfismo Genético; Factor 1 de Unión al Dominio 1 de Regulación Positiva; Proteína Tirosina Fosfatasa no Receptora Tipo 22/genética; Proteínas Represoras/genética; Familia-src Quinasas/genética

Palabras clave

Autoimmune disease; Biorepository; Endophenotype; GWAS

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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Enfermedades Autoinmunes / Sistema de Registros / Carácter Cuantitativo Heredable Tipo de estudio: Prognostic_studies Límite: Humans Idioma: En Revista: Immunol Res Asunto de la revista: ALERGIA E IMUNOLOGIA Año: 2015 Tipo del documento: Article País de afiliación: Estados Unidos

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