Access the full text.
Sign up today, get DeepDyve free for 14 days.
Patricia Aldred, E. Hollox, J. Armour (2005)
Copy number polymorphism and expression level variation of the human alpha-defensin genes DEFA1 and DEFA3.Human molecular genetics, 14 14
D. Conrad, D. Pinto, R. Redon, L. Feuk, O. Gokcumen, Yujun Zhang, J. Aerts, Peter Campbell, Tomas Fitzgerald, C. Ihm, K. Kristiansson, J. MacDonald, Ifejinelo Onyiah, Andy Chun, S. Robson, K. Stirrups, A. Valsesia, Klaudia Walter, John Wei, C. Tyler-Smith, N. Carter, Charles Lee, S. Scherer, M. Hurles (2010)
Origins and functional impact of copy number variation in the human genomeNature, 464
K. Raza, D. Scheel-Toellner, Chi-Yeung Lee, D. Pilling, S. Curnow, F. Falciani, V. Treviño, Kanta Kumar, L. Assi, J. Lord, C. Gordon, C. Buckley, M. Salmon (2006)
Synovial fluid leukocyte apoptosis is inhibited in patients with very early rheumatoid arthritisArthritis Research & Therapy, 8
R. Redon, S. Ishikawa, Karen Fitch, L. Feuk, L. Feuk, G. Perry, T. Andrews, H. Fiegler, M. Shapero, A. Carson, A. Carson, Wenwei Chen, Eun Cho, Stephanie Dallaire, J. Freeman, J. González, M. Gratacós, Jing Huang, Dimitrios Kalaitzopoulos, D. Komura, J. MacDonald, C. Marshall, C. Marshall, R. Mei, Lyndal Montgomery, Keunihiro Nishimura, Kohji Okamura, Kohji Okamura, F. Shen, M. Somerville, J. Tchinda, A. Valsesia, Cara Woodwark, Fengtang Yang, Junjun Zhang, T. Zerjal, Jane Zhang, L. Armengol, D. Conrad, X. Estivill, X. Estivill, C. Tyler-Smith, N. Carter, H. Aburatani, Charles Lee, Charles Lee, K. Jones, S. Scherer, S. Scherer, M. Hurles (2006)
Global variation in copy number in the human genomeNature, 444
AW Morgan, W Thompson, SG Martin, YEAR consortium, AM Carter, UKRAG Consortium, HA Erlich, A Barton, L Hocking, DM Reid, P Harrison, BP Wordsworth, S Steer, J Worthington, P Emery, AG Wilson, JH Barrett (2009)
Re‐evaluation of the interaction between HLA‐DRB1 SE alleles, PTPN22 and smoking in determining the susceptibility to autoantibody positive and negative rheumatoid arthritis in a large UK Caucasian population, 60
C. Wagner, G. Hänsch (2004)
Genetic deficiency of CD16, the low‐affinity receptor for immunoglobulin G, has no impact on the functional capacity of polymorphonuclear neutrophilsEuropean Journal of Clinical Investigation, 34
A. Morgan, J. Barrett, B. Griffiths, D. Subramanian, J. Robinson, V. Keyte, Manir Ali, E. Jones, R. Old, F. Ponchel, A. Boylston, D. Situnayake, A. Markham, P. Emery, J. Isaacs (2005)
Analysis of Fcγ receptor haplotypes in rheumatoid arthritis: FCGR3A remains a major susceptibility gene at this locus, with an additional contribution from FCGR3BArthritis Research & Therapy, 8
Jeffrey Ravetch, B. Perussia (1989)
Alternative membrane forms of Fc gamma RIII(CD16) on human natural killer cells and neutrophils. Cell type-specific expression of two genes that differ in single nucleotide substitutionsThe Journal of Experimental Medicine, 170
Zhou (2009)
4Int Immunol, 22
T. Cooke, E. Hurd, H. Jasin, J. Bienenstock, J. Bienenstock, M. Ziff (1975)
Identification of immunoglobulins and complement in rheumatoid articular collagenous tissues.Arthritis and rheumatism, 18 6
L. Ernst, D. Metes, R. Herberman, P. Morel (2002)
Allelic polymorphisms in the FcγRIIC gene can influence its function on normal human natural killer cellsJournal of Molecular Medicine, 80
(2010)
Genome‐wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls, 464
N. Craddock, M. Hurles, Niall Cardin, R. Pearson, V. Plagnol, S. Robson, Damjan Vukcevic, Chris Barnes, D. Conrad, E. Giannoulatou, Chris Holmes, J. Marchini, K. Stirrups, M. Tobin, L. Wain, C. Yau, J. Aerts, T. Ahmad, T. Andrews, Hazel Arbury, A. Attwood, A. Auton, S. Ball, A. Balmforth, J. Barrett, I. Barroso, A. Barton, A. Bennett, Seema Bhaskar, K. Błaszczyk, J. Bowes, O. Brand, P. Braund, F. Bredin, G. Breen, M. Brown, I. Bruce, J. Bull, O. Burren, J. Burton, J. Byrnes, S. Caesar, C. Clee, A. Coffey, J. Connell, J. Cooper, A. Dominiczak, K. Downes, H. Drummond, D. Dudakia, A. Dunham, Bernadette Ebbs, D. Eccles, S. Edkins, C. Edwards, Anna Elliot, P. Emery, David Evans, G. Evans, S. Eyre, A. Farmer, I. Ferrier, L. Feuk, Tomas Fitzgerald, E. Flynn, A. Forbes, L. Forty, J. Franklyn, R. Freathy, P. Gibbs, Paul Gilbert, O. Gokumen, K. Gordon-Smith, Elizabeth Gray, E. Green, C. Groves, D. Grozeva, R. Gwilliam, A. Hall, Naomi Hammond, Matthew Hardy, Pille Harrison, N. Hassanali, H. Hebaishi, Sarah Hines, A. Hinks, G. Hitman, L. Hocking, E. Howard, Philip Howard, J. Howson, D. Hughes, S. Hunt, J. Isaacs, Mahim Jain, D. Jewell, T. Johnson, J. Jolley, I. Jones, L. Jones, G. Kirov, C. Langford, H. Lango-Allen, G. Lathrop, James Lee, Kate Lee, C. Lees, Lewis Kf, C. Lindgren, Meeta Maisuria-Armer, J. Maller, J. Mansfield, Paul Martin, D. Massey, W. McArdle, P. McGuffin, K. McLay, A. Mentzer, M. Mimmack, A. Morgan, A. Morris, C. Mowat, S. Myers, W. Newman, E. Nimmo, M. O’Donovan, Abiodun Onipinla, Ifejinelo Onyiah, Nigel Ovington, M. Owen, Kimmo Palin, K. Parnell, D. Pernet, J. Perry, A. Phillips, D. Pinto, N. Prescott, I. Prokopenko, M. Quail, S. Rafelt, N. Rayner, R. Redon, D. Reid, A. Renwick, S. Ring, N. Robertson, E. Russell, D. Clair, J. Sambrook, J. Sanderson, H. Schuilenburg, C. Scott, R. Scott, S. Seal, S. Shaw-Hawkins, B. Shields, M. Simmonds, D. Smyth, Elilan Somaskantharajah, Katarina Spanova, S. Steer, J. Stephens, H. Stevens, M. Stone, Z. Su, D. Symmons, J. Thompson, W. Thomson, M. Travers, C. Turnbull, A. Valsesia, M. Walker, N. Walker, C. Wallace, M. Warren-Perry, N. Watkins, J. Webster, M. Weedon, A. Wilson, Matt Woodburn, B. Wordsworth, A. Young, E. Zeggini, N. Carter, T. Frayling, Charles Lee, G. McVean, P. Munroe, A. Palotie, S. Sawcer, S. Scherer, D. Strachan, C. Tyler-Smith, M. Brown, P. Burton, M. Caulfield, A. Compston, M. Farrall, S. Gough, A. Hall, A. Hattersley, A. Hill, C. Mathew, M. Pembrey, J. Satsangi, M. Stratton, Jane Worthington, P. Deloukas, A. Duncanson, D. Kwiatkowski, M. McCarthy, W. Ouwehand, M. Parkes, N. Rahman, J. Todd, N. Samani, P. Donnelly (2010)
Genome-wide association study of copy number variation in 16,000 cases of eight common diseases and 3,000 shared controlsNature, 464
X. Estivill, J. Cheung, M. Pujana, K. Nakabayashi, S. Scherer, L. Tsui (2002)
Chromosomal regions containing high-density and ambiguously mapped putative single nucleotide polymorphisms (SNPs) correlate with segmental duplications in the human genome.Human molecular genetics, 11 17
J. Bailey, Z. Gu, Royden Clark, K. Reinert, Rhea Samonte, S. Schwartz, M. Adams, E. Myers, Peter Li, E. Eichler (2002)
Recent Segmental Duplications in the Human GenomeScience, 297
F. Chuang, M. Sassaroli, J. Unkeless (2000)
Convergence of Fcγ Receptor IIA and Fcγ Receptor IIIB Signaling Pathways in Human Neutrophils1The Journal of Immunology, 164
A. Vetto, M. Mannik, E. Zatarain-Rios, M. Wener (2005)
Immune deposits in articular cartilage of patients with rheumatoid arthritis have a granular pattern not seen in osteoarthritisRheumatology International, 10
D. Morris, A. Roberts, Abi Witherden, R. Tarzi, P. Barros, J. Whittaker, T. Cook, T. Aitman, T. Vyse (2010)
Evidence for both copy number and allelic (NA1/NA2) risk at the FCGR3B locus in systemic lupus erythematosusEuropean Journal of Human Genetics, 18
Hao Yang, Qin Zhou, Dajin Chen, Hua Jiang, Youying Mao, Jiuxi Chen (2010)
The single nucleotide polymorphisms gene but not the copy number variation of Fcgr3B is associated with lupus nephritis in Chinese peopleLupus, 19
Chris Barnes, V. Plagnol, Tomas Fitzgerald, R. Redon, J. Marchini, D. Clayton, M. Hurles (2008)
A robust statistical method for case-control association testing with copy number variationNature Genetics, 40
N. Carter (2007)
Methods and strategies for analyzing copy number variation using DNA microarraysNature Genetics, 39 Suppl 1
A. Parsian, J. Sheren, Ting Tao, P. Goswami, R. Malyapa, R. Rheeden, M. Watson, C. Hunt (2000)
The human Hsp70B gene at the HSPA7 locus of chromosome 1 is transcribed but non-functional.Biochimica et biophysica acta, 1494 1-2
M. Fanciulli, P. Norsworthy, E. Petretto, R. Dong, L. Harper, L. Kamesh, J. Heward, S. Gough, A. Smith, A. Blakemore, P. Froguel, P. Froguel, C. Owen, S. Pearce, L. Teixeira, L. Guillevin, D. Graham, C. Pusey, H. Cook, T. Vyse, T. Aitman, T. Aitman (2007)
FCGR3B copy number variation is associated with susceptibility to systemic, but not organ-specific, autoimmunityNature Genetics, 39
J. Salmon, J. Edberg, R. Kimberly, Rosemary Ryan (1990)
Allelic Variants Have Functionally Distinct Capacities
W. Breunis, Edwin Mirre, J. Geissler, N. Laddach, G. Wolbink, E. Schoot, M. Haas, M. Boer, D. Roos, T. Kuijpers (2009)
Copy number variation at the FCGR locus includes FCGR3A, FCGR2C and FCGR3B but not FCGR2A and FCGR2BHuman Mutation, 30
H. Wright, R. Moots, R. Bucknall, S. Edwards (2010)
Neutrophil function in inflammation and inflammatory diseases.Rheumatology, 49 9
M. Thabet, T. Huizinga, R. Marques, G. Stoeken-Rijsbergen, A. Bakker, F. Kurreeman, S. White, R. Toes, A. Mil (2008)
Contribution of Fcγ receptor IIIA gene 158V/F polymorphism and copy number variation to the risk of ACPA-positive rheumatoid arthritisAnnals of the Rheumatic Diseases, 68
H. Koene, M. Haas, M. Kleijer, D. Roos, A. Borne (1996)
NA‐phenotype‐dependent differences in neutrophil FcγRIIIb expression cause differences in plasma levels of soluble FcγRIIIBritish Journal of Haematology, 93
M. Kleijer, van Zwieten, Dirk, A. Kr (2000)
Neutrophil FcyRIIIb Deficiency, Nature, and Clinical Consequences: A Study of 21 Individuals From 14 Families
(1989)
Alternative membrane forms of FcγRIII(CD16) on human natural killer cells and neutrophils
Edinburgh Research Explorer Association of variation in Fcgamma receptor 3B gene copy number with rheumatoid arthritis in Caucasian samples
T. Aitman, R. Dong, T. Vyse, P. Norsworthy, Michelle Johnson, Jennifer Smith, J. Mangion, Cheri Roberton-Lowe, Amy Marshall, E. Petretto, M. Hodges, G. Bhangal, Sheetal Patel, Kelly Sheehan‐Rooney, M. Duda, P. Cook, D. Evans, J. Domin, J. Flint, J. Boyle, C. Pusey, H. Cook (2006)
Copy number polymorphism in Fcgr3 predisposes to glomerulonephritis in rats and humansNature, 439
M. Mamtani, J. Anaya, Weijing He, S. Ahuja (2010)
Association of copy number variation in the FCGR3B gene with risk of autoimmune diseasesGenes and Immunity, 11
D. Mewar, A. Coote, David Moore, I. Marinou, Jodie Keyworth, M. Dickson, D. Montgomery, M. Binks, A. Wilson (2006)
Independent associations of anti-cyclic citrullinated peptide antibodies and rheumatoid factor with radiographic severity of rheumatoid arthritisArthritis Research & Therapy, 8
P. Burton, D. Clayton, L. Cardon, N. Craddock, P. Deloukas, A. Duncanson, D. Kwiatkowski, M. McCarthy, W. Ouwehand, N. Samani, J. Todd, P. Donnelly, J. Barrett, D. Davison, D. Easton, David Evans, H. Leung, J. Marchini, A. Morris, C. Spencer, M. Tobin, A. Attwood, J. Boorman, B. Cant, Ursula Everson, Judith Hussey, J. Jolley, A. Knight, K. Koch, Elizabeth Meech, S. Nutland, C. Prowse, H. Stevens, N. Taylor, G. Walters, N. Walker, N. Watkins, T. Winzer, Richard Jones, W. McArdle, S. Ring, D. Strachan, M. Pembrey, G. Breen, D. Clair, S. Caesar, K. Gordon-Smith, L. Jones, C. Fraser, E. Green, D. Grozeva, M. Hamshere, P. Holmans, I. Jones, G. Kirov, V. Moskvina, I. Nikolov, M. O’Donovan, M. Owen, D. Collier, A. Elkin, A. Farmer, R. Williamson, P. McGuffin, A. Young, I. Ferrier, S. Ball, A. Balmforth, J. Barrett, D. Bishop, M. Iles, A. Maqbool, N. Yuldasheva, A. Hall, P. Braund, R. Dixon, M. Mangino, Suzanne Stevens, J. Thompson, F. Bredin, M. Tremelling, M. Parkes, H. Drummond, C. Lees, E. Nimmo, J. Satsangi, S. Fisher, A. Forbes, C. Lewis, Clive Onnie, N. Prescott, J. Sanderson, C. Mathew, J. Barbour, M. Mohiuddin, C. Todhunter, J. Mansfield, T. Ahmad, Fraser Cummings, D. Jewell, J. Webster, Morris Brown, G. Lathrop, J. Connell, A. Dominiczak, C. Marcano, B. Burke, R. Dobson, J. Gungadoo, Kate Lee, P. Munroe, S. Newhouse, Abiodun Onipinla, C. Wallace, M. Xue, M. Caulfield, M. Farrall, A. Barton, I. Bruce, Hannah Donovan, S. Eyre, Paul Gilbert, S. Hider, A. Hinks, S. John, C. Potter, A. Silman, D. Symmons, W. Thomson, Jane Worthington, D. Dunger, B. Widmer, T. Frayling, R. Freathy, H. Lango, J. Perry, B. Shields, M. Weedon, A. Hattersley, G. Hitman, M. Walker, K. Elliott, C. Groves, C. Lindgren, N. Rayner, N. Timpson, E. Zeggini, M. Newport, G. Sirugo, Emily Lyons, F. Vannberg, A. Hill, L. Bradbury, C. Farrar, J. Pointon, Paul Wordsworth, M. Brown, J. Franklyn, J. Heward, M. Simmonds, S. Gough, S. Seal, M. Stratton, N. Rahman, M. Ban, A. Goris, S. Sawcer, Alastair Compston, D. Conway, M. Jallow, K. Rockett, S. Bumpstead, Amy Chaney, K. Downes, Mohammed Ghori, R. Gwilliam, S. Hunt, M. Inouye, A. Keniry, E. King, R. McGinnis, Simon Potter, R. Ravindrarajah, P. Whittaker, Claire Widden, D. Withers, Niall Cardin, T. Ferreira, Joanne Pereira-Gale, Ingileif Hallgrímsdóttir, Bryan Howie, Z. Su, Y. Teo, Damjan Vukcevic, D. Bentley, A. Compston (2007)
Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controlsNature, 447
James Robinson, J. Barrett, John Taylor, Marc Naven, D. Corscadden, A. Barton, A. Wilson, P. Emery, J. Isaacs, A. Morgan (2009)
Dissection of the FCGR3A association with RA: increased association in men and with autoantibody positive diseaseAnnals of the Rheumatic Diseases, 69
P. Selvaraj, N. Fifadara, S. Nagarajan, Ashley Cimino, Guixian Wang (2004)
Functional regulation of human neutrophil Fc γ receptorsImmunologic Research, 29
E. Hollox, J. Detering, Tushna Dehnugara (2009)
An integrated approach for measuring copy number variation at the FCGR3 (CD16) locusHuman Mutation, 30
Eray Tuzun, A. Sharp, J. Bailey, R. Kaul, V. Morrison, Lisa Pertz, E. Haugen, H. Hayden, D. Albertson, D. Pinkel, M. Olson, E. Eichler (2005)
Fine-scale structural variation of the human genomeNature Genetics, 37
S. Raychaudhuri, Brian Thomson, E. Remmers, S. Eyre, A. Hinks, C. Guiducci, J. Catanese, G. Xie, E. Stahl, Robert Chen, L. Alfredsson, C. Amos, K. Ardlie, A. Barton, J. Bowes, N. Burtt, Monica Chang, J. Coblyn, K. Costenbader, L. Criswell, J. Crusius, J. Cui, P. Jager, B. Ding, P. Emery, E. Flynn, Pille Harrison, L. Hocking, T. Huizinga, D. Kastner, X. Ke, F. Kurreeman, Annette Lee, Xiangdong Liu, Yonghong Li, Paul Martin, A. Morgan, L. Padyukov, D. Reid, Mark Seielstad, M. Seldin, N. Shadick, S. Steer, P. Tak, W. Thomson, A. Mil, I. Horst-Bruinsma, M. Weinblatt, A. Wilson, G. Wolbink, P. Wordsworth, D. Altshuler, E. Karlson, R. Toes, N. Vries, A. Begovich, K. Siminovitch, Jane Worthington, L. Klareskog, P. Gregersen, M. Daly, R. Plenge (2009)
Genetic variants at CD28, PRDM1, and CD2/CD58 are associated with rheumatoid arthritis riskNature genetics, 41
W. Breunis, Edwin Mirre, M. Bruin, J. Geissler, M. Boer, M. Peters, D. Roos, M. Haas, H. Koene, T. Kuijpers (2008)
Copy number variation of the activating FCGR2C gene predisposes to idiopathic thrombocytopenic purpura.Blood, 111 3
J. Salmon, J. Edberg, R. Kimberly (1990)
Fc gamma receptor III on human neutrophils. Allelic variants have functionally distinct capacities.The Journal of clinical investigation, 85 4
L. Ernst, D. Metes, R. Herberman, P. Morel (2002)
Allelic polymorphisms in the FcgammaRIIC gene can influence its function on normal human natural killer cells.Journal of molecular medicine, 80 4
D. Symmons, G. Turner, R. Webb, P. Åsten, E. Barrett, M. Lunt, D. Scott, A. Silman (2002)
The prevalence of rheumatoid arthritis in the United Kingdom: new estimates for a new century.Rheumatology, 41 7
S. Mccarroll, Tracy Hadnott, G. Perry, Pardis Sabeti, M. Zody, J. Barrett, Stephanie Dallaire, S. Gabriel, Charles Lee, M. Daly, D. Altshuler, The Consortium (2006)
Common deletion polymorphisms in the human genomeNature Genetics, 38
P. Selvaraj, N. Fifadara, S. Nagarajan, Ashley Cimino, Guixian Wang (2004)
Functional regulation of human neutrophil Fc gamma receptors.Immunologic research, 29 1-3
McKinney (2010)
1711Ann Rheum Dis, 69
de Haas (1995)
2403Blood, 86
N. Craddock, M. Hurles, Niall Cardin, R. Pearson, V. Plagnol, S. Robson, Damjan Vukcevic, Chris Barnes, D. Conrad, E. Giannoulatou, Chris Holmes, J. Marchini, K. Stirrups, M. Tobin, L. Wain, C. Yau, J. Aerts, T. Ahmad, T. Andrews, Hazel Arbury, A. Attwood, A. Auton, S. Ball, A. Balmforth, J. Barrett, I. Barroso, A. Barton, A. Bennett, S. Bhaskar, K. Błaszczyk, J. Bowes, O. Brand, P. Braund, F. Bredin, G. Breen, Morris Brown, I. Bruce, J. Bull, O. Burren, J. Burton, J. Byrnes, S. Caesar, C. Clee, A. Coffey, J. Connell, J. Cooper, A. Dominiczak, K. Downes, H. Drummond, D. Dudakia, A. Dunham, Bernadette Ebbs, D. Eccles, S. Edkins, C. Edwards, Anna Elliot, P. Emery, David Evans, G. Evans, S. Eyre, A. Farmer, I. Ferrier, L. Feuk, Tomas Fitzgerald, E. Flynn, A. Forbes, L. Forty, J. Franklyn, R. Freathy, P. Gibbs, Paul Gilbert, O. Gokumen, K. Gordon-Smith, Emma Gray, E. Green, C. Groves, D. Grozeva, R. Gwilliam, A. Hall, Naomi Hammond, Matthew Hardy, Pille Harrison, N. Hassanali, H. Hebaishi, Sarah Hines, A. Hinks, G. Hitman, L. Hocking, E. Howard, Philip Howard, J. Howson, D. Hughes, S. Hunt, J. Isaacs, Mahim Jain, D. Jewell, T. Johnson, J. Jolley, I. Jones, L. Jones, G. Kirov, C. Langford, H. Lango-Allen, G. Lathrop, James Lee, Kate Lee, C. Lees, Kevin Lewis, C. Lindgren, Meeta Maisuria-Armer, J. Maller, J. Mansfield, Paul Martin, D. Massey, W. McArdle, P. McGuffin, K. McLay, A. Mentzer, M. Mimmack, A. Morgan, A. Morris, C. Mowat, S. Myers, W. Newman, E. Nimmo, M. O’Donovan, Abiodun Onipinla, Ifejinelo Onyiah, Nigel Ovington, M. Owen, Kimmo Palin, K. Parnell, D. Pernet, J. Perry, A. Phillips, D. Pinto, N. Prescott, I. Prokopenko, M. Quail, S. Rafelt, N. Rayner, R. Redon, D. Reid, Renwick, S. Ring, N. Robertson, E. Russell, D. Clair, J. Sambrook, J. Sanderson, H. Schuilenburg, C. Scott, R. Scott, S. Seal, S. Shaw-Hawkins, B. Shields, M. Simmonds, D. Smyth, Elilan Somaskantharajah, Katarina Spanova, S. Steer, J. Stephens, H. Stevens, M. Stone, Z. Su, D. Symmons, J. Thompson, W. Thomson, M. Travers, C. Turnbull, A. Valsesia, M. Walker, N. Walker, C. Wallace, M. Warren-Perry, N. Watkins, J. Webster, M. Weedon, A. Wilson, Matt Woodburn, B. Wordsworth, A. Young, E. Zeggini, N. Carter, T. Frayling, Charles Lee, G. McVean, P. Munroe, A. Palotie, S. Sawcer, S. Scherer, D. Strachan, C. Tyler-Smith, M. Brown, P. Burton, M. Caulfield, Alastair Compston, M. Farrall, S. Gough, A. Hall, A. Hattersley, A. Hill, C. Mathew, M. Pembrey, J. Satsangi, M. Stratton, Jane Worthington, P. Deloukas, A. Duncanson, D. Kwiatkowski, M. McCarthy, W. Ouwehand, M. Parkes, N. Rahman, J. Todd, N. Samani, P. Donnelly (2010)
Genome-wide association study of copy number variation in 16,000 cases of eight common diseases and 3,000 shared controls
Xu-jie Zhou, J. Lv, D. Bu, Lei Yu, Yan-rong Yang, Juan Zhao, Z. Cui, Rui Yang, Ming-hui Zhao, Hong Zhang (2010)
Copy number variation of FCGR3A rather than FCGR3B and FCGR2B is associated with susceptibility to anti-GBM disease.International immunology, 22 1
F. Chuang, M. Sassaroli, J. Unkeless (2000)
Convergence of Fc gamma receptor IIA and Fc gamma receptor IIIB signaling pathways in human neutrophils.Journal of immunology, 164 1
F. Arnett, S. Edworthy, D. Bloch, D. McShane, J. Fries, N. Cooper, L. Healey, S. Kaplan, M. Liang, H. Luthra, T. Medsger, D. Mitchell, D. Neustadt, R. Pinals, J. Schaller, J. Sharp, R. Wilder, G. Hunder (1988)
The American Rheumatism Association 1987 revised criteria for the classification of rheumatoid arthritis.Arthritis and rheumatism, 31 3
H. Poo, J. Krauss, L. Mayo-Bond, R. Todd, H. Petty (1995)
Interaction of Fc gamma receptor type IIIB with complement receptor type 3 in fibroblast transfectants: evidence from lateral diffusion and resonance energy transfer studies.Journal of molecular biology, 247 4
C McKinney, M Fanciulli, ME Merriman, A Phipps‐Green, BZ Alizadeh, BP Koeleman, N Dalbeth, PJ Gow, AA Harrison, J Highton, PB Jones, LK Stamp, S Steer, P Barrera, MJ Coenen, B Franke, PL van Riel, TJ Vyse, TJ Aitman, TR Radstake, TR Merriman (2010)
Association of variation in Fc gamma receptor 3B gene copy number with rheumatoid arthritis in Caucasian samples, 69
F. Arnett (1990)
Revised criteria for the classification of rheumatoid arthritis.Orthopedic nursing, 9 2
S. Mccarroll, F. Kuruvilla, Joshua Korn, S. Cawley, J. Nemesh, Alec Wysoker, M. Shapero, P. Bakker, J. Maller, Andrew Kirby, A. Elliott, Melissa Parkin, E. Hubbell, Teresa Webster, R. Mei, Jim Veitch, P. Collins, R. Handsaker, S. Lincoln, Marcia Nizzari, J. Blume, K. Jones, R. Rava, M. Daly, S. Gabriel, D. Altshuler (2008)
Integrated detection and population-genetic analysis of SNPs and copy number variationNature Genetics, 40
I. Carr, James Robinson, R. Dimitriou, A. Markham, A. Morgan, D. Bonthron (2009)
Inferring relative proportions of DNA variants from sequencing electropherogramsBioinformatics, 25 24
A. Morgan, W. Thomson, Stephen Martin, A. Carter, H. Erlich, A. Barton, L. Hocking, D. Reid, Pille Harrison, Paul Wordsworth, S. Steer, Jane Worthington, P. Emery, A. Wilson, J. Barrett (2009)
Reevaluation of the interaction between HLA-DRB1 shared epitope alleles, PTPN22, and smoking in determining susceptibility to autoantibody-positive and autoantibody-negative rheumatoid arthritis in a large UK Caucasian population.Arthritis and rheumatism, 60 9
N. Tsuboi, K. Asano, M. Lauterbach, T. Mayadas (2008)
Human neutrophil Fcgamma receptors initiate and play specialized nonredundant roles in antibody-mediated inflammatory diseases.Immunity, 28 6
Heather Niederer, L. Willcocks, Tim Rayner, Wanling Yang, Y. Lau, T. Williams, J. Scott, Britta Urban, Britta Urban, N. Peshu, S. Dunstan, T. Hien, N. Phu, L. Padyukov, I. Gunnarsson, E. Svenungsson, C. Savage, R. Watts, P. Lyons, D. Clayton, Kenneth Smith (2010)
Copy number, linkage disequilibrium and disease association in the FCGR locusHuman Molecular Genetics, 19
H. Koene, M. Haas, M. Kleijer, D. Roos, A. Borne (1996)
NA-phenotype-dependent differences in neutrophil Fc gamma RIIIb expression cause differences in plasma levels of soluble Fc gamma RIII.British journal of haematology, 93 1
B. Stranger, M. Forrest, M. Dunning, Catherine Ingle, C. Beazley, N. Thorne, R. Redon, C. Bird, A. Grassi, Charles Lee, C. Tyler-Smith, N. Carter, S. Scherer, S. Tavaré, P. Deloukas, M. Hurles, E. Dermitzakis (2007)
Relative Impact of Nucleotide and Copy Number Variation on Gene Expression PhenotypesScience, 315
R. Zwieten, AE Borne (2000)
consequences : a study of 21 individuals from 14 families Neutrophil Fc gamma RIIIb deficiency
Willcocks (2008)
1573J Exp Med, 205
E. Stahl, S. Raychaudhuri, E. Remmers, G. Xie, S. Eyre, Brian Thomson, Yonghong Li, F. Kurreeman, A. Zhernakova, A. Hinks, C. Guiducci, Robert Chen, L. Alfredsson, C. Amos, K. Ardlie, A. Barton, J. Bowes, E. Brouwer, N. Burtt, J. Catanese, J. Coblyn, M. Coenen, K. Costenbader, L. Criswell, J. Crusius, J. Cui, P. Bakker, P. Jager, B. Ding, P. Emery, E. Flynn, Pille Harrison, L. Hocking, T. Huizinga, D. Kastner, X. Ke, Annette Lee, Xiangdong Liu, Paul Martin, A. Morgan, L. Padyukov, M. Posthumus, T. Radstake, D. Reid, Mark Seielstad, M. Seldin, N. Shadick, S. Steer, P. Tak, W. Thomson, A. Mil, I. Horst-Bruinsma, C. Schoot, P. Riel, M. Weinblatt, A. Wilson, G. Wolbink, Bryan Wordsworth, C. Wijmenga, E. Karlson, R. Toes, N. Vries, A. Begovich, Jane Worthington, K. Siminovitch, P. Gregersen, L. Klareskog, R. Plenge (2010)
Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk lociNature Genetics, 42
(2008)
Copy number of FCGR3B, which is associated with systemic lupus erythematosus, correlates with protein expression and immune complex uptake
The FCGR locus encoding the low‐affinity Fcγ receptors (FcγR) for immunoglobulin G has largely been missed by genome‐wide association studies due to complications with structural variation and segmental duplication. Recently identified copy number variants (CNVs) affecting FCGR3A and FCGR3B have been linked to a number of autoimmune disorders. We have developed and validated a novel quantitative sequence variant assay in combination with an adapted paralogue ratio test to examine independent CNVs carrying FCGR3A and FCGR3B in rheumatoid arthritis (RA) compared with healthy volunteers (n = 1,115 and 654, respectively). Implementation of a robust statistical analysis framework (CNVtools) allowed for systematic batch effects and for the inherent uncertainty of copy number assignment, thus avoiding two major sources of false positive results. Evidence for association with neither duplications nor deletions of FCGR3A was found; however, in line with previous studies, there was evidence of overrepresentation of FCGR3B deletions in RA (odds ratio [OR] 1.50, P = 0.028), which was more apparent in rheumatoid factor positive disease (OR 1.61, P = 0.011). The level of FcγRIIIb, encoded by FCGR3B, expression on neutrophils was shown to correlate with gene copy number. Thus, our results may highlight an important role for neutrophils in the pathogenesis of RA, potentially through reduced FcγRIIIb‐mediated immune complex clearance. Hum Mutat 33:741–749, 2012. © 2012 Wiley Periodicals, Inc.
Human Mutation – Wiley
Published: Apr 1, 2012
Keywords: CNV; FCGR3B; FCGR3A; CD16; rheumatoid arthritis; QSV
Read and print from thousands of top scholarly journals.
Already have an account? Log in
Bookmark this article. You can see your Bookmarks on your DeepDyve Library.
To save an article, log in first, or sign up for a DeepDyve account if you don’t already have one.
Copy and paste the desired citation format or use the link below to download a file formatted for EndNote
Access the full text.
Sign up today, get DeepDyve free for 14 days.
All DeepDyve websites use cookies to improve your online experience. They were placed on your computer when you launched this website. You can change your cookie settings through your browser.