Literature DB >> 26467974

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

Peter K Gregersen1, Gila Klein2, Mary Keogh2, Marlena Kern2, Margaret DeFranco2, Kim R Simpfendorfer2, Sun Jung Kim3, Betty Diamond3.   

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.

Entities:  

Keywords:  Autoimmune disease; Biorepository; Endophenotype; GWAS

Mesh：

Substances：

Year:  2015        PMID： 26467974     DOI： 10.1007/s12026-015-8711-8

Source DB:  PubMed          Journal:  Immunol Res        ISSN： 0257-277X            Impact factor:   2.829


  33 in total

1.  Blk haploinsufficiency impairs the development, but enhances the functional responses, of MZ B cells.

Authors:  Elizabeth M Samuelson; Renee M Laird; Alexander C Maue; Rosemary Rochford; Sandra M Hayes
Journal:  Immunol Cell Biol       Date:  2011-09-06       Impact factor: 5.126

2.  Association of systemic lupus erythematosus with C8orf13-BLK and ITGAM-ITGAX.

Authors:  Geoffrey Hom; Robert R Graham; Barmak Modrek; Kimberly E Taylor; Ward Ortmann; Sophie Garnier; Annette T Lee; Sharon A Chung; Ricardo C Ferreira; P V Krishna Pant; Dennis G Ballinger; Roman Kosoy; F Yesim Demirci; M Ilyas Kamboh; Amy H Kao; Chao Tian; Iva Gunnarsson; Anders A Bengtsson; Solbritt Rantapää-Dahlqvist; Michelle Petri; Susan Manzi; Michael F Seldin; Lars Rönnblom; Ann-Christine Syvänen; Lindsey A Criswell; Peter K Gregersen; Timothy W Behrens
Journal:  N Engl J Med       Date:  2008-01-20       Impact factor: 91.245

3.  Common risk alleles for inflammatory diseases are targets of recent positive selection.

Authors:  Towfique Raj; Manik Kuchroo; Joseph M Replogle; Soumya Raychaudhuri; Barbara E Stranger; Philip L De Jager
Journal:  Am J Hum Genet       Date:  2013-03-21       Impact factor: 11.025

4.  The autoimmunity-associated gene PTPN22 potentiates toll-like receptor-driven, type 1 interferon-dependent immunity.

Authors:  Yaya Wang; Iftach Shaked; Stephanie M Stanford; Wenbo Zhou; Julie M Curtsinger; Zbigniew Mikulski; Zachary R Shaheen; Genhong Cheng; Kristy Sawatzke; Amanda M Campbell; Jennifer L Auger; Hatice Bilgic; Fernanda M Shoyama; David O Schmeling; Henry H Balfour; Kiminori Hasegawa; Andrew C Chan; John A Corbett; Bryce A Binstadt; Matthew F Mescher; Klaus Ley; Nunzio Bottini; Erik J Peterson
Journal:  Immunity       Date:  2013-07-18       Impact factor: 31.745

5.  Autoimmune disease-associated haplotypes of BLK exhibit lowered thresholds for B cell activation and expansion of Ig class-switched B cells.

Authors:  Kim R Simpfendorfer; Brandon E Armstead; Andrew Shih; Wentian Li; Mark Curran; Nataly Manjarrez-Orduño; Annette T Lee; Betty Diamond; Peter K Gregersen
Journal:  Arthritis Rheumatol       Date:  2015-11       Impact factor: 10.995

6.  Reduced B lymphoid kinase (Blk) expression enhances proinflammatory cytokine production and induces nephrosis in C57BL/6-lpr/lpr mice.

Authors:  Elizabeth M Samuelson; Renee M Laird; Amber M Papillion; Arthur H Tatum; Michael F Princiotta; Sandra M Hayes
Journal:  PLoS One       Date:  2014-03-17       Impact factor: 3.240

7.  The autoimmune-associated genetic variant PTPN22 R620W enhances neutrophil activation and function in patients with rheumatoid arthritis and healthy individuals.

Authors:  Rachel Bayley; Kerry A Kite; Helen M McGettrick; Jacqueline P Smith; George D Kitas; Christopher D Buckley; Stephen P Young
Journal:  Ann Rheum Dis       Date:  2014-03-24       Impact factor: 19.103

8.  Pleiotropic genes for metabolic syndrome and inflammation.

Authors:  Aldi T Kraja; Daniel I Chasman; Kari E North; Alexander P Reiner; Lisa R Yanek; Tuomas O Kilpeläinen; Jennifer A Smith; Abbas Dehghan; Josée Dupuis; Andrew D Johnson; Mary F Feitosa; Fasil Tekola-Ayele; Audrey Y Chu; Ilja M Nolte; Zari Dastani; Andrew Morris; Sarah A Pendergrass; Yan V Sun; Marylyn D Ritchie; Ahmad Vaez; Honghuang Lin; Symen Ligthart; Letizia Marullo; Rebecca Rohde; Yaming Shao; Mark A Ziegler; Hae Kyung Im; Renate B Schnabel; Torben Jørgensen; Marit E Jørgensen; Torben Hansen; Oluf Pedersen; Ronald P Stolk; Harold Snieder; Albert Hofman; Andre G Uitterlinden; Oscar H Franco; M Arfan Ikram; J Brent Richards; Charles Rotimi; James G Wilson; Leslie Lange; Santhi K Ganesh; Mike Nalls; Laura J Rasmussen-Torvik; James S Pankow; Josef Coresh; Weihong Tang; W H Linda Kao; Eric Boerwinkle; Alanna C Morrison; Paul M Ridker; Diane M Becker; Jerome I Rotter; Sharon L R Kardia; Ruth J F Loos; Martin G Larson; Yi-Hsiang Hsu; Michael A Province; Russell Tracy; Benjamin F Voight; Dhananjay Vaidya; Christopher J O'Donnell; Emelia J Benjamin; Behrooz Z Alizadeh; Inga Prokopenko; James B Meigs; Ingrid B Borecki
Journal:  Mol Genet Metab       Date:  2014-05-09       Impact factor: 4.797

9.  Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.

Authors:  Luke Jostins; Stephan Ripke; Rinse K Weersma; Richard H Duerr; Dermot P McGovern; Ken Y Hui; James C Lee; L Philip Schumm; Yashoda Sharma; Carl A Anderson; Jonah Essers; Mitja Mitrovic; Kaida Ning; Isabelle Cleynen; Emilie Theatre; Sarah L Spain; Soumya Raychaudhuri; Philippe Goyette; Zhi Wei; Clara Abraham; Jean-Paul Achkar; Tariq Ahmad; Leila Amininejad; Ashwin N Ananthakrishnan; Vibeke Andersen; Jane M Andrews; Leonard Baidoo; Tobias Balschun; Peter A Bampton; Alain Bitton; Gabrielle Boucher; Stephan Brand; Carsten Büning; Ariella Cohain; Sven Cichon; Mauro D'Amato; Dirk De Jong; Kathy L Devaney; Marla Dubinsky; Cathryn Edwards; David Ellinghaus; Lynnette R Ferguson; Denis Franchimont; Karin Fransen; Richard Gearry; Michel Georges; Christian Gieger; Jürgen Glas; Talin Haritunians; Ailsa Hart; Chris Hawkey; Matija Hedl; Xinli Hu; Tom H Karlsen; Limas Kupcinskas; Subra Kugathasan; Anna Latiano; Debby Laukens; Ian C Lawrance; Charlie W Lees; Edouard Louis; Gillian Mahy; John Mansfield; Angharad R Morgan; Craig Mowat; William Newman; Orazio Palmieri; Cyriel Y Ponsioen; Uros Potocnik; Natalie J Prescott; Miguel Regueiro; Jerome I Rotter; Richard K Russell; Jeremy D Sanderson; Miquel Sans; Jack Satsangi; Stefan Schreiber; Lisa A Simms; Jurgita Sventoraityte; Stephan R Targan; Kent D Taylor; Mark Tremelling; Hein W Verspaget; Martine De Vos; Cisca Wijmenga; David C Wilson; Juliane Winkelmann; Ramnik J Xavier; Sebastian Zeissig; Bin Zhang; Clarence K Zhang; Hongyu Zhao; Mark S Silverberg; Vito Annese; Hakon Hakonarson; Steven R Brant; Graham Radford-Smith; Christopher G Mathew; John D Rioux; Eric E Schadt; Mark J Daly; Andre Franke; Miles Parkes; Severine Vermeire; Jeffrey C Barrett; Judy H Cho
Journal:  Nature       Date:  2012-11-01       Impact factor: 49.962

10.  Genome-wide association analysis identifies 13 new risk loci for schizophrenia.

Authors:  Stephan Ripke; Colm O'Dushlaine; Kimberly Chambert; Jennifer L Moran; Anna K Kähler; Susanne Akterin; Sarah E Bergen; Ann L Collins; James J Crowley; Menachem Fromer; Yunjung Kim; Sang Hong Lee; Patrik K E Magnusson; Nick Sanchez; Eli A Stahl; Stephanie Williams; Naomi R Wray; Kai Xia; Francesco Bettella; Anders D Borglum; Brendan K Bulik-Sullivan; Paul Cormican; Nick Craddock; Christiaan de Leeuw; Naser Durmishi; Michael Gill; Vera Golimbet; Marian L Hamshere; Peter Holmans; David M Hougaard; Kenneth S Kendler; Kuang Lin; Derek W Morris; Ole Mors; Preben B Mortensen; Benjamin M Neale; Francis A O'Neill; Michael J Owen; Milica Pejovic Milovancevic; Danielle Posthuma; John Powell; Alexander L Richards; Brien P Riley; Douglas Ruderfer; Dan Rujescu; Engilbert Sigurdsson; Teimuraz Silagadze; August B Smit; Hreinn Stefansson; Stacy Steinberg; Jaana Suvisaari; Sarah Tosato; Matthijs Verhage; James T Walters; Douglas F Levinson; Pablo V Gejman; Kenneth S Kendler; Claudine Laurent; Bryan J Mowry; Michael C O'Donovan; Michael J Owen; Ann E Pulver; Brien P Riley; Sibylle G Schwab; Dieter B Wildenauer; Frank Dudbridge; Peter Holmans; Jianxin Shi; Margot Albus; Madeline Alexander; Dominique Campion; David Cohen; Dimitris Dikeos; Jubao Duan; Peter Eichhammer; Stephanie Godard; Mark Hansen; F Bernard Lerer; Kung-Yee Liang; Wolfgang Maier; Jacques Mallet; Deborah A Nertney; Gerald Nestadt; Nadine Norton; Francis A O'Neill; George N Papadimitriou; Robert Ribble; Alan R Sanders; Jeremy M Silverman; Dermot Walsh; Nigel M Williams; Brandon Wormley; Maria J Arranz; Steven Bakker; Stephan Bender; Elvira Bramon; David Collier; Benedicto Crespo-Facorro; Jeremy Hall; Conrad Iyegbe; Assen Jablensky; Rene S Kahn; Luba Kalaydjieva; Stephen Lawrie; Cathryn M Lewis; Kuang Lin; Don H Linszen; Ignacio Mata; Andrew McIntosh; Robin M Murray; Roel A Ophoff; John Powell; Dan Rujescu; Jim Van Os; Muriel Walshe; Matthias Weisbrod; Durk Wiersma; Peter Donnelly; Ines Barroso; Jenefer M Blackwell; Elvira Bramon; Matthew A Brown; Juan P Casas; Aiden P Corvin; Panos Deloukas; Audrey Duncanson; Janusz Jankowski; Hugh S Markus; Christopher G Mathew; Colin N A Palmer; Robert Plomin; Anna Rautanen; Stephen J Sawcer; Richard C Trembath; Ananth C Viswanathan; Nicholas W Wood; Chris C A Spencer; Gavin Band; Céline Bellenguez; Colin Freeman; Garrett Hellenthal; Eleni Giannoulatou; Matti Pirinen; Richard D Pearson; Amy Strange; Zhan Su; Damjan Vukcevic; Peter Donnelly; Cordelia Langford; Sarah E Hunt; Sarah Edkins; Rhian Gwilliam; Hannah Blackburn; Suzannah J Bumpstead; Serge Dronov; Matthew Gillman; Emma Gray; Naomi Hammond; Alagurevathi Jayakumar; Owen T McCann; Jennifer Liddle; Simon C Potter; Radhi Ravindrarajah; Michelle Ricketts; Avazeh Tashakkori-Ghanbaria; Matthew J Waller; Paul Weston; Sara Widaa; Pamela Whittaker; Ines Barroso; Panos Deloukas; Christopher G Mathew; Jenefer M Blackwell; Matthew A Brown; Aiden P Corvin; Mark I McCarthy; Chris C A Spencer; Elvira Bramon; Aiden P Corvin; Michael C O'Donovan; Kari Stefansson; Edward Scolnick; Shaun Purcell; Steven A McCarroll; Pamela Sklar; Christina M Hultman; Patrick F Sullivan
Journal:  Nat Genet       Date:  2013-08-25       Impact factor: 38.330
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  9 in total

1.  IRF5 genetic risk variants drive myeloid-specific IRF5 hyperactivation and presymptomatic SLE.

Authors:  Dan Li; Bharati Matta; Su Song; Victoria Nelson; Kirsten Diggins; Kim R Simpfendorfer; Peter K Gregersen; Peter Linsley; Betsy J Barnes
Journal:  JCI Insight       Date:  2020-01-30

2.  Current Status and Future Challenges of Biobank Research in Malaysia.

Authors:  Latifah Amin; Angelina Olesen; Zurina Mahadi; Maznah Ibrahim
Journal:  Asian Bioeth Rev       Date:  2021-03-31

Review 3.  Menstruation: science and society.

Authors:  Hilary O D Critchley; Elnur Babayev; Serdar E Bulun; Sandy Clark; Iolanda Garcia-Grau; Peter K Gregersen; Aoife Kilcoyne; Ji-Yong Julie Kim; Missy Lavender; Erica E Marsh; Kristen A Matteson; Jacqueline A Maybin; Christine N Metz; Inmaculada Moreno; Kami Silk; Marni Sommer; Carlos Simon; Ridhi Tariyal; Hugh S Taylor; Günter P Wagner; Linda G Griffith
Journal:  Am J Obstet Gynecol       Date:  2020-07-21       Impact factor: 10.693

4.  Analysis of menstrual effluent: diagnostic potential for endometriosis.

Authors:  Laura A Warren; Andrew Shih; Susana Marquez Renteira; Tamer Seckin; Brandon Blau; Kim Simpfendorfer; Annette Lee; Christine N Metz; Peter K Gregersen
Journal:  Mol Med       Date:  2018-03-19       Impact factor: 6.354

5.  Influence of genetic copy number variants of the human GLUT3 glucose transporter gene SLC2A3 on protein expression, glycolysis and rheumatoid arthritis risk: A genetic replication study.

Authors:  Kim R Simpfendorfer; Wentian Li; Andrew Shih; Hongxiu Wen; Harini P Kothari; Edward A Einsidler; Arthur Wuster; Julie Hunkapiller; Timothy W Behrens; Robert R Graham; Michael J Townsend; Doron M Behar; Rui Hu; Elliott Greenspan; Peter K Gregersen
Journal:  Mol Genet Metab Rep       Date:  2019-04-06

6.  The Digital Marshmallow Test (DMT) Diagnostic and Monitoring Mobile Health App for Impulsive Behavior: Development and Validation Study.

Authors:  Michael Sobolev; Rachel Vitale; Hongyi Wen; James Kizer; Robert Leeman; J P Pollak; Amit Baumel; Nehal P Vadhan; Deborah Estrin; Frederick Muench
Journal:  JMIR Mhealth Uhealth       Date:  2021-01-22       Impact factor: 4.773

7.  Proteomic and Single-Cell Transcriptomic Dissection of Human Plasmacytoid Dendritic Cell Response to Influenza Virus.

Authors:  Mustafa H Ghanem; Andrew J Shih; Houman Khalili; Emily G Werth; Jayanta K Chakrabarty; Lewis M Brown; Kim R Simpfendorfer; Peter K Gregersen
Journal:  Front Immunol       Date:  2022-03-23       Impact factor: 8.786

8.  Detection of neutrophil extracellular traps in patient plasma: method development and validation in systemic lupus erythematosus and healthy donors that carry IRF5 genetic risk.

Authors:  Bharati Matta; Jenna Battaglia; Betsy J Barnes
Journal:  Front Immunol       Date:  2022-07-26       Impact factor: 8.786

9.  Investigations into SCAMP5, a candidate lupus risk gene expressed in plasmacytoid dendritic cells.

Authors:  Mustafa H Ghanem; Andrew J Shih; Himanshu Vashistha; Latanya N Coke; Wentian Li; Sun Jung Kim; Kim R Simpfendorfer; Peter K Gregersen
Journal:  Lupus Sci Med       Date:  2021-11
  9 in total

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