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Association scan of 14,500 nonsynonymous SNPs in four diseases identifies autoimmunity variants

Authors :
Burton, Paul R
Clayton, David G
Cardon, Lon R
Craddock, Nick
Deloukas, Panos
Duncanson, Audrey
Kwiatkowski, Dominic P
McCarthy, Mark I
Ouwehand, Willem H
Samani, Nilesh J
Todd, John A
Donnelly (Chair), Peter
Barrett, Jeffrey C
Davison, Dan
Donnelly, Peter
Easton, Doug
Evans, David M
Leung, Hin-Tak
Marchini, Jonathan L
Morris, Andrew P
Spencer, Chris CA
Tobin, Martin D
Attwood, Antony P
Boorman, James P
Cant, Barbara
Everson, Ursula
Hussey, Judith M
Jolley, Jennifer D
Knight, Alexandra S
Koch, Kerstin
Meech, Elizabeth
Nutland, Sarah
Prowse, Christopher V
Stevens, Helen E
Taylor, Niall C
Walters, Graham R
Walker, Neil M
Watkins, Nicholas A
Winzer, Thilo
Jones, Richard W
McArdle, Wendy L
Ring, Susan M
Strachan, David P
Pembrey, Marcus
Breen, Gerome
Clair, David St
Caesar, Sian
Gordon-Smith, Katharine
Jones, Lisa
Fraser, Christine
Green, Elaine K
Grozeva, Detelina
Hamshere, Marian L
Holmans, Peter A
Jones, Ian R
Kirov, George
Moskivina, Valentina
Nikolov, Ivan
O'Donovan, Michael C
Owen, Michael J
Collier, David A
Elkin, Amanda
Farmer, Anne
Williamson, Richard
McGuffin, Peter
Young, Allan H
Ferrier, I Nicol
Ball, Stephen G
Balmforth, Anthony J
Barrett, Jennifer H
Bishop, Timothy D
Iles, Mark M
Maqbool, Azhar
Yuldasheva, Nadira
Hall, Alistair S
Braund, Peter S
Dixon, Richard J
Mangino, Massimo
Stevens, Suzanne
Thompson, John R
Bredin, Francesca
Tremelling, Mark
Parkes, Miles
Drummond, Hazel
Lees, Charles W
Nimmo, Elaine R
Satsangi, Jack
Fisher, Sheila A
Forbes, Alastair
Lewis, Cathryn M
Onnie, Clive M
Prescott, Natalie J
Sanderson, Jeremy
Matthew, Christopher G
Barbour, Jamie
Mohiuddin, M Khalid
Todhunter, Catherine E
Mansfield, John C
Ahmad, Tariq
Cummings, Fraser R
Jewell, Derek P
Webster, John
Brown, Morris J
Lathrop, Mark G
Connell, John
Dominiczak, Anna
Marcano, Carolina A Braga
Burke, Beverley
Dobson, Richard
Gungadoo, Johannie
Lee, Kate L
Munroe, Patricia B
Newhouse, Stephen J
Onipinla, Abiodun
Wallace, Chris
Xue, Mingzhan
Caulfield, Mark
Farrall, Martin
Barton, Anne
Bruce, Ian N
Donovan, Hannah
Eyre, Steve
Gilbert, Paul D
Hilder, Samantha L
Hinks, Anne M
John, Sally L
Potter, Catherine
Silman, Alan J
Symmons, Deborah PM
Thomson, Wendy
Worthington, Jane
Dunger, David B
Widmer, Barry
Frayling, Timothy M
Freathy, Rachel M
Lango, Hana
Perry, John R B
Shields, Beverley M
Weedon, Michael N
Hattersley, Andrew T
Hitman, Graham A
Walker, Mark
Elliott, Kate S
Groves, Christopher J
Lindgren, Cecilia M
Rayner, Nigel W
Timpson, Nicolas J
Zeggini, Eleftheria
Newport, Melanie
Sirugo, Giorgio
Lyons, Emily
Vannberg, Fredrik
Hill, Adrian V S
Bradbury, Linda A
Farrar, Claire
Pointon, Jennifer J
Wordsworth, Paul
Brown, Matthew A
Franklyn, Jayne A
Heward, Joanne M
Simmonds, Matthew J
Gough, Stephen CL
Seal, Sheila
Stratton, Michael R
Rahman, Nazneen
Ban, Maria
Goris, An
Sawcer, Stephen J
Compston, Alastair
Conway, David
Jallow, Muminatou
Rockett, Kirk A
Bumpstead, Suzannah J
Chaney, Amy
Downes, Kate
Ghori, Mohammed JR
Gwilliam, Rhian
Hunt, Sarah E
Inouye, Michael
Keniry, Andrew
King, Emma
McGinnis, Ralph
Potter, Simon
Ravindrarajah, Rathi
Whittaker, Pamela
Widden, Claire
Withers, David
Cardin, Niall J
Ferreira, Teresa
Pereira-Gale, Joanne
Hallgrimsdóttir, Ingeleif B
Howie, Bryan N
Su, Zhan
Teo, Yik Ying
Vukcevic, Damjan
Bentley, David
Mitchell, Sarah L
Newby, Paul R
Brand, Oliver J
Carr-Smith, Jackie
Pearce, Simon H S
Gough, Stephen C L
McGinnis, R
Keniry, A
Deloukas, P
Reveille, John D
Zhou, Xiaodong
Sims, Anne-Marie
Dowling, Alison
Taylor, Jacqueline
Doan, Tracy
Davis, John C
Savage, Laurie
Ward, Michael M
Learch, Thomas L
Weisman, Michael H
Burton, Paul R
Clayton, David G
Cardon, Lon R
Craddock, Nick
Deloukas, Panos
Duncanson, Audrey
Kwiatkowski, Dominic P
McCarthy, Mark I
Ouwehand, Willem H
Samani, Nilesh J
Todd, John A
Donnelly (Chair), Peter
Barrett, Jeffrey C
Davison, Dan
Donnelly, Peter
Easton, Doug
Evans, David M
Leung, Hin-Tak
Marchini, Jonathan L
Morris, Andrew P
Spencer, Chris CA
Tobin, Martin D
Attwood, Antony P
Boorman, James P
Cant, Barbara
Everson, Ursula
Hussey, Judith M
Jolley, Jennifer D
Knight, Alexandra S
Koch, Kerstin
Meech, Elizabeth
Nutland, Sarah
Prowse, Christopher V
Stevens, Helen E
Taylor, Niall C
Walters, Graham R
Walker, Neil M
Watkins, Nicholas A
Winzer, Thilo
Jones, Richard W
McArdle, Wendy L
Ring, Susan M
Strachan, David P
Pembrey, Marcus
Breen, Gerome
Clair, David St
Caesar, Sian
Gordon-Smith, Katharine
Jones, Lisa
Fraser, Christine
Green, Elaine K
Grozeva, Detelina
Hamshere, Marian L
Holmans, Peter A
Jones, Ian R
Kirov, George
Moskivina, Valentina
Nikolov, Ivan
O'Donovan, Michael C
Owen, Michael J
Collier, David A
Elkin, Amanda
Farmer, Anne
Williamson, Richard
McGuffin, Peter
Young, Allan H
Ferrier, I Nicol
Ball, Stephen G
Balmforth, Anthony J
Barrett, Jennifer H
Bishop, Timothy D
Iles, Mark M
Maqbool, Azhar
Yuldasheva, Nadira
Hall, Alistair S
Braund, Peter S
Dixon, Richard J
Mangino, Massimo
Stevens, Suzanne
Thompson, John R
Bredin, Francesca
Tremelling, Mark
Parkes, Miles
Drummond, Hazel
Lees, Charles W
Nimmo, Elaine R
Satsangi, Jack
Fisher, Sheila A
Forbes, Alastair
Lewis, Cathryn M
Onnie, Clive M
Prescott, Natalie J
Sanderson, Jeremy
Matthew, Christopher G
Barbour, Jamie
Mohiuddin, M Khalid
Todhunter, Catherine E
Mansfield, John C
Ahmad, Tariq
Cummings, Fraser R
Jewell, Derek P
Webster, John
Brown, Morris J
Lathrop, Mark G
Connell, John
Dominiczak, Anna
Marcano, Carolina A Braga
Burke, Beverley
Dobson, Richard
Gungadoo, Johannie
Lee, Kate L
Munroe, Patricia B
Newhouse, Stephen J
Onipinla, Abiodun
Wallace, Chris
Xue, Mingzhan
Caulfield, Mark
Farrall, Martin
Barton, Anne
Bruce, Ian N
Donovan, Hannah
Eyre, Steve
Gilbert, Paul D
Hilder, Samantha L
Hinks, Anne M
John, Sally L
Potter, Catherine
Silman, Alan J
Symmons, Deborah PM
Thomson, Wendy
Worthington, Jane
Dunger, David B
Widmer, Barry
Frayling, Timothy M
Freathy, Rachel M
Lango, Hana
Perry, John R B
Shields, Beverley M
Weedon, Michael N
Hattersley, Andrew T
Hitman, Graham A
Walker, Mark
Elliott, Kate S
Groves, Christopher J
Lindgren, Cecilia M
Rayner, Nigel W
Timpson, Nicolas J
Zeggini, Eleftheria
Newport, Melanie
Sirugo, Giorgio
Lyons, Emily
Vannberg, Fredrik
Hill, Adrian V S
Bradbury, Linda A
Farrar, Claire
Pointon, Jennifer J
Wordsworth, Paul
Brown, Matthew A
Franklyn, Jayne A
Heward, Joanne M
Simmonds, Matthew J
Gough, Stephen CL
Seal, Sheila
Stratton, Michael R
Rahman, Nazneen
Ban, Maria
Goris, An
Sawcer, Stephen J
Compston, Alastair
Conway, David
Jallow, Muminatou
Rockett, Kirk A
Bumpstead, Suzannah J
Chaney, Amy
Downes, Kate
Ghori, Mohammed JR
Gwilliam, Rhian
Hunt, Sarah E
Inouye, Michael
Keniry, Andrew
King, Emma
McGinnis, Ralph
Potter, Simon
Ravindrarajah, Rathi
Whittaker, Pamela
Widden, Claire
Withers, David
Cardin, Niall J
Ferreira, Teresa
Pereira-Gale, Joanne
Hallgrimsdóttir, Ingeleif B
Howie, Bryan N
Su, Zhan
Teo, Yik Ying
Vukcevic, Damjan
Bentley, David
Mitchell, Sarah L
Newby, Paul R
Brand, Oliver J
Carr-Smith, Jackie
Pearce, Simon H S
Gough, Stephen C L
McGinnis, R
Keniry, A
Deloukas, P
Reveille, John D
Zhou, Xiaodong
Sims, Anne-Marie
Dowling, Alison
Taylor, Jacqueline
Doan, Tracy
Davis, John C
Savage, Laurie
Ward, Michael M
Learch, Thomas L
Weisman, Michael H

Abstract

We have genotyped 14,436 nonsynonymous SNPs (nsSNPs) and 897 major histocompatibility complex (MHC) tag SNPs from 1,000 independent cases of ankylosing spondylitis (AS), autoimmune thyroid disease (AITD), multiple sclerosis (MS) and breast cancer (BC). Comparing these data against a common control dataset derived from 1,500 randomly selected healthy British individuals, we report initial association and independent replication in a North American sample of two new loci related to ankylosing spondylitis, ARTS1 and IL23R, and confirmation of the previously reported association of AITD with TSHR and FCRL3. These findings, enabled in part by increased statistical power resulting from the expansion of the control reference group to include individuals from the other disease groups, highlight notable new possibilities for autoimmune regulation and suggest that IL23R may be a common susceptibility factor for the major 'seronegative' diseases.

Details

Database :
OAIster
Notes :
application/pdf, Burton, Paul R, Clayton, David G, Cardon, Lon R, Craddock, Nick, Deloukas, Panos, Duncanson, Audrey, Kwiatkowski, Dominic P, McCarthy, Mark I, Ouwehand, Willem H, Samani, Nilesh J, Todd, John A, Donnelly (Chair), Peter, Barrett, Jeffrey C, Burton, Paul R, Davison, Dan, Donnelly, Peter, Easton, Doug, Evans, David M, Leung, Hin-Tak, Marchini, Jonathan L, Morris, Andrew P, Spencer, Chris CA, Tobin, Martin D, Cardon, Lon R, Clayton, David G, Attwood, Antony P, Boorman, James P, Cant, Barbara, Everson, Ursula, Hussey, Judith M, Jolley, Jennifer D, Knight, Alexandra S, Koch, Kerstin, Meech, Elizabeth, Nutland, Sarah, Prowse, Christopher V, Stevens, Helen E, Taylor, Niall C, Walters, Graham R, Walker, Neil M, Watkins, Nicholas A, Winzer, Thilo, Todd, John A, Ouwehand, Willem H, Jones, Richard W, McArdle, Wendy L, Ring, Susan M, Strachan, David P, Pembrey, Marcus, Breen, Gerome, Clair, David St, Caesar, Sian, Gordon-Smith, Katharine, Jones, Lisa, Fraser, Christine, Green, Elaine K, Grozeva, Detelina, Hamshere, Marian L, Holmans, Peter A, Jones, Ian R, Kirov, George, Moskivina, Valentina, Nikolov, Ivan, O'Donovan, Michael C, Owen, Michael J, Craddock, Nick, Collier, David A, Elkin, Amanda, Farmer, Anne, Williamson, Richard, McGuffin, Peter, Young, Allan H, Ferrier, I Nicol, Ball, Stephen G, Balmforth, Anthony J, Barrett, Jennifer H, Bishop, Timothy D, Iles, Mark M, Maqbool, Azhar, Yuldasheva, Nadira, Hall, Alistair S, Braund, Peter S, Burton, Paul R, Dixon, Richard J, Mangino, Massimo, Stevens, Suzanne, Tobin, Martin D, Thompson, John R, Samani, Nilesh J, Bredin, Francesca, Tremelling, Mark, Parkes, Miles, Drummond, Hazel, Lees, Charles W, Nimmo, Elaine R, Satsangi, Jack, Fisher, Sheila A, Forbes, Alastair, Lewis, Cathryn M, Onnie, Clive M, Prescott, Natalie J, Sanderson, Jeremy, Matthew, Christopher G, Barbour, Jamie, Mohiuddin, M Khalid, Todhunter, Catherine E, Mansfield, John C, Ahmad, Tariq, Cummings, Fraser R, Jewell, Derek P, Webster, John, Brown, Morris J, Clayton, Da, English
Publication Type :
Electronic Resource
Accession number :
edsoai.ocn959538022
Document Type :
Electronic Resource