Assessing Disease Risk in Genome-wide Association Studies Using Family History

被引：8

作者：

Ghosh, Arpita ^{[1
]}

Hartge, Patricia ^{[1
]}

Purdue, Mark P. ^{[1
]}

Chanock, Stephen J. ^{[1
]}

Amundadottir, Laufey ^{[1
]}

Wang, Zhaoming ^{[1
]}

Wentzensen, Nicolas ^{[1
]}

Chatterjee, Nilanjan ^{[1
]}

Wacholder, Sholom ^{[1
]}

机构：

[1] NCI, Biostat Branch, Div Canc Epidemiol & Genet, Rockville, MD 20852 USA

来源：

EPIDEMIOLOGY | 2012年 / 23卷 / 04期

关键词：

CANCER SUSCEPTIBILITY LOCUS; MULTIPLE LOCI; PROSTATE; IDENTIFICATION; VARIANTS;

D O I：

10.1097/EDE.0b013e31825583a0

中图分类号：

R1 [预防医学、卫生学];

学科分类号：

1004 ; 120402 ;

摘要：

We show how to use reports of cancer in family members to discover additional genetic associations or confirm previous findings in genome-wide association (GWA) studies conducted in case-control, cohort, or cross-sectional studies. Our novel family history-based approach allows economical association studies for multiple cancers, without genotyping of relatives (as required in family studies), follow-up of participants (as required in cohort studies), or oversampling of specific cancer cases (as required in case-control studies). We empirically evaluate the performance of the proposed family history-based approach in studying associations with prostate and ovarian cancers, using data from GWA studies previously conducted within the Prostate, Lung, Colorectal, and Ovarian Cancer Screening Trial. The family history-based method may be particularly useful for investigating genetic susceptibility to rare diseases for which accruing cases may be very difficult, by using disease information from nongenotyped relatives of participants in multiple case-control and cohort studies designed primarily for other purposes.

引用

页码：616 / 622

页数：7

共 23 条

[1] Multiple loci on 8q24 associated with prostate cancer susceptibility [J].

Al Olama, Ali Amin ;

Kote-Jarai, Zsofia ;

Giles, Graham G. ;

Guy, Michelle ;

Morrison, Jonathan ;

Severi, Gianluca ;

Leongamornlert, Daniel A. ;

Tymrakiewicz, Malgorzata ;

Jhavar, Sameer ;

Saunders, Ed ;

Hopper, John L. ;

Southey, Melissa C. ;

Muir, Kenneth R. ;

English, Dallas R. ;

Dearnaley, David P. ;

Ardern-Jones, Audrey T. ;

Hall, Amanda L. ;

O'Brien, Lynne T. ;

Wilkinson, Rosemary A. ;

Sawyer, Emma ;

Lophatananon, Artitaya ;

Horwich, Alan ;

Huddart, Robert A. ;

Khoo, Vincent S. ;

Parker, Christopher C. ;

Woodhouse, Christopher J. ;

Thompson, Alan ;

Christmas, Tim ;

Ogden, Chris ;

Cooper, Colin ;

Donovan, Jenny L. ;

Hamdy, Freddie C. ;

Neal, David E. ;

Eeles, Rosalind A. ;

Easton, Douglas F. .

NATURE GENETICS, 2009, 41 (10) :1058-1060

[2] Genome-wide association study identifies variants in the ABO locus associated with susceptibility to pancreatic cancer [J].

Amundadottir, Laufey ;

Kraft, Peter ;

Stolzenberg-Solomon, Rachael Z. ;

Fuchs, Charles S. ;

Petersen, Gloria M. ;

Arslan, Alan A. ;

Bueno-de-Mesquita, H. Bas ;

Gross, Myron ;

Helzlsouer, Kathy ;

Jacobs, Eric J. ;

LaCroix, Andrea ;

Zheng, Wei ;

Albanes, Demetrius ;

Bamlet, William ;

Berg, Christine D. ;

Berrino, Franco ;

Bingham, Sheila ;

Buring, Julie E. ;

Bracci, Paige M. ;

Canzian, Federico ;

Clavel-Chapelon, Francoise ;

Clipp, Sandra ;

Cotterchio, Michelle ;

de Andrade, Mariza ;

Duell, Eric J. ;

Fox, John W., Jr. ;

Gallinger, Steven ;

Gaziano, J. Michael ;

Giovannucci, Edward L. ;

Goggins, Michael ;

Gonzalez, Carlos A. ;

Hallmans, Goran ;

Hankinson, Susan E. ;

Hassan, Manal ;

Holly, Elizabeth A. ;

Hunter, David J. ;

Hutchinson, Amy ;

Jackson, Rebecca ;

Jacobs, Kevin B. ;

Jenab, Mazda ;

Kaaks, Rudolf ;

Klein, Alison P. ;

Kooperberg, Charles ;

Kurtz, Robert C. ;

Li, Donghui ;

Lynch, Shannon M. ;

Mandelson, Margaret ;

McWilliams, Robert R. ;

Mendelsohn, Julie B. ;

Michaud, Dominique S. .

NATURE GENETICS, 2009, 41 (09) :986-U47

[3] Common variants at 19p13 are associated with susceptibility to ovarian cancer [J].

Bolton, Kelly L. ;

Tyrer, Jonathan ;

Song, Honglin ;

Ramus, Susan J. ;

Notaridou, Maria ;

Jones, Chris ;

Sher, Tanya ;

Gentry-Maharaj, Aleksandra ;

Wozniak, Eva ;

Tsai, Ya-Yu ;

Weidhaas, Joanne ;

Paik, Daniel ;

Van den Berg, David J. ;

Stram, Daniel O. ;

Pearce, Celeste Leigh ;

Wu, Anna H. ;

Brewster, Wendy ;

Anton-Culver, Hoda ;

Ziogas, Argyrios ;

Narod, Steven A. ;

Levine, Douglas A. ;

Kaye, Stanley B. ;

Brown, Robert ;

Paul, Jim ;

Flanagan, James ;

Sieh, Weiva ;

McGuire, Valerie ;

Whittemore, Alice S. ;

Campbell, Ian ;

Gore, Martin E. ;

Lissowska, Jolanta ;

Yang, Hanna P. ;

Medrek, Krzysztof ;

Gronwald, Jacek ;

Lubinski, Jan ;

Jakubowska, Anna ;

Le, Nhu D. ;

Cook, Linda S. ;

Kelemen, Linda E. ;

Brook-Wilson, Angela ;

Massuger, Leon F. A. G. ;

Kiemeney, Lambertus A. ;

Aben, Katja K. H. ;

van Altena, Anne M. ;

Houlston, Richard ;

Tomlinson, Ian ;

Palmieri, Rachel T. ;

Moorman, Patricia G. ;

Schildkraut, Joellen ;

Iversen, Edwin S. .

NATURE GENETICS, 2010, 42 (10) :880-+

[4] Identification of seven new prostate cancer susceptibility loci through a genome-wide association study [J].

Eeles, Rosalind A. ;

Kote-Jarai, Zsofia ;

Al Olama, Ali Amin ;

Giles, Graham G. ;

Guy, Michelle ;

Severi, Gianluca ;

Muir, Kenneth ;

Hopper, John L. ;

Henderson, Brian E. ;

Haiman, Christopher A. ;

Schleutker, Johanna ;

Hamdy, Freddie C. ;

Neal, David E. ;

Donovan, Jenny L. ;

Stanford, Janet L. ;

Ostrander, Elaine A. ;

Ingles, Sue A. ;

John, Esther M. ;

Thibodeau, Stephen N. ;

Schaid, Daniel ;

Park, Jong Y. ;

Spurdle, Amanda ;

Clements, Judith ;

Dickinson, Joanne L. ;

Maier, Christiane ;

Vogel, Walther ;

Doerk, Thilo ;

Rebbeck, Timothy R. ;

Cooney, Kathleen A. ;

Cannon-Albright, Lisa ;

Chappuis, Pierre O. ;

Hutter, Pierre ;

Zeegers, Maurice ;

Kaneva, Radka ;

Zhang, Hong-Wei ;

Lu, Yong-Jie ;

Foulkes, William D. ;

English, Dallas R. ;

Leongamornlert, Daniel A. ;

Tymrakiewicz, Malgorzata ;

Morrison, Jonathan ;

Ardern-Jones, Audrey T. ;

Hall, Amanda L. ;

O'Brien, Lynne T. ;

Wilkinson, Rosemary A. ;

Saunders, Edward J. ;

Page, Elizabeth C. ;

Sawyer, Emma J. ;

Edwards, Stephen M. ;

Dearnaley, David P. .

NATURE GENETICS, 2009, 41 (10) :1116-U97

[5] A genome-wide association study identifies susceptibility loci for ovarian cancer at 2q31 and 8q24 [J].

Goode, Llen L. ;

Chenevix-Trench, Georgia ;

Song, Honglin ;

Ramus, Susan J. ;

Notaridou, Maria ;

Lawrenson, Kate ;

Widschwendter, Martin ;

Vierkant, Robert A. ;

Larson, Melissa C. ;

Kjaer, Susanne K. ;

Birrer, Michael J. ;

Berchuck, Andrew ;

Schildkraut, Joellen ;

Tomlinson, Ian ;

Kiemeney, Lambertus A. ;

Cook, Linda S. ;

Gronwald, Jacek ;

Garcia-Closas, Montserrat ;

Gore, Martin E. ;

Campbell, Ian ;

Whittemore, Alice S. ;

Sutphen, Rebecca ;

Phelan, Catherine ;

Anton-Culver, Hoda ;

Pearce, Celeste Leigh ;

Lambrechts, Diether ;

Rossing, Mary Anne ;

Chang-Claude, Jenny ;

Moysich, Kirsten B. ;

Goodman, Marc T. ;

Doerk, Thilo ;

Nevanlinna, Heli ;

Ness, Roberta B. ;

Rafnar, Thorunn ;

Hogdall, Claus ;

Hogdall, Estrid ;

Fridley, Brooke L. ;

Cunningham, Julie M. ;

Sieh, Weiva ;

McGuire, Valerie ;

Godwin, Andrew K. ;

Cramer, Daniel W. ;

Hernandez, Dena ;

Levine, Douglas ;

Lu, Karen ;

Iversen, Edwin S. ;

Palmieri, Rachel T. ;

Houlston, Richard ;

van Altena, Anne M. ;

Aben, Katja K. H. .

NATURE GENETICS, 2010, 42 (10) :874-+

[6]

Khoury MJ., 1993, FUNDAMENTALS GENETIC

[7] Confirmation of Family Cancer History Reported in a Population-Based Survey [J].

Mai, Phuong L. ;

Garceau, Anne O. ;

Graubard, Barry I. ;

Dunn, Marsha ;

McNeel, Timothy S. ;

Gonsalves, Lou ;

Gail, Mitchell H. ;

Greene, Mark H. ;

Willis, Gordon B. ;

Wideroff, Louise .

JNCI-JOURNAL OF THE NATIONAL CANCER INSTITUTE, 2011, 103 (10) :788-797

[8] Genotype imputation for genome-wide association studies [J].

Marchini, Jonathan ;

Howie, Bryan .

NATURE REVIEWS GENETICS, 2010, 11 (07) :499-511

[9]

Olson, 2002, BIOSTAT GENETICS GEN

[10] A genome-wide association study identifies pancreatic cancer susceptibility loci on chromosomes 13q22.1, 1q32.1 and 5p15.33 [J].

Petersen, Gloria M. ;

Amundadottir, Laufey ;

Fuchs, Charles S. ;

Kraft, Peter ;

Stolzenberg-Solomon, Rachael Z. ;

Jacobs, Kevin B. ;

Arslan, Alan A. ;

Bueno-de-Mesquita, H. Bas ;

Gallinger, Steven ;

Gross, Myron ;

Helzlsouer, Kathy ;

Holly, Elizabeth A. ;

Jacobs, Eric J. ;

Klein, Alison P. ;

LaCroix, Andrea ;

Li, Donghui ;

Mandelson, Margaret T. ;

Olson, Sara H. ;

Risch, Harvey A. ;

Zheng, Wei ;

Albanes, Demetrius ;

Bamlet, William R. ;

Berg, Christine D. ;

Boutron-Ruault, Marie-Christine ;

Buring, Julie E. ;

Bracci, Paige M. ;

Canzian, Federico ;

Clipp, Sandra ;

Cotterchio, Michelle ;

de Andrade, Mariza ;

Duell, Eric J. ;

Gaziano, J. Michael ;

Giovannucci, Edward L. ;

Goggins, Michael ;

Hallmans, Goran ;

Hankinson, Susan E. ;

Hassan, Manal ;

Howard, Barbara ;

Hunter, David J. ;

Hutchinson, Amy ;

Jenab, Mazda ;

Kaaks, Rudolf ;

Kooperberg, Charles ;

Krogh, Vittorio ;

Kurtz, Robert C. ;

Lynch, Shannon M. ;

McWilliams, Robert R. ;

Mendelsohn, Julie B. ;

Michaud, Dominique S. ;

Parikh, Hemang .

NATURE GENETICS, 2010, 42 (03) :224-U29

← 1 2 3 →

共 23 条

[1] Multiple loci on 8q24 associated with prostate cancer susceptibility [J].

Al Olama, Ali Amin ;

Kote-Jarai, Zsofia ;

Giles, Graham G. ;

Guy, Michelle ;

Morrison, Jonathan ;

Severi, Gianluca ;

Leongamornlert, Daniel A. ;

Tymrakiewicz, Malgorzata ;

Jhavar, Sameer ;

Saunders, Ed ;

Hopper, John L. ;

Southey, Melissa C. ;

Muir, Kenneth R. ;

English, Dallas R. ;

Dearnaley, David P. ;

Ardern-Jones, Audrey T. ;

Hall, Amanda L. ;

O'Brien, Lynne T. ;

Wilkinson, Rosemary A. ;

Sawyer, Emma ;

Lophatananon, Artitaya ;

Horwich, Alan ;

Huddart, Robert A. ;

Khoo, Vincent S. ;

Parker, Christopher C. ;

Woodhouse, Christopher J. ;

Thompson, Alan ;

Christmas, Tim ;

Ogden, Chris ;

Cooper, Colin ;

Donovan, Jenny L. ;

Hamdy, Freddie C. ;

Neal, David E. ;

Eeles, Rosalind A. ;

Easton, Douglas F. .

NATURE GENETICS, 2009, 41 (10) :1058-1060

[2] Genome-wide association study identifies variants in the ABO locus associated with susceptibility to pancreatic cancer [J].

Amundadottir, Laufey ;

Kraft, Peter ;

Stolzenberg-Solomon, Rachael Z. ;

Fuchs, Charles S. ;

Petersen, Gloria M. ;

Arslan, Alan A. ;

Bueno-de-Mesquita, H. Bas ;

Gross, Myron ;

Helzlsouer, Kathy ;

Jacobs, Eric J. ;

LaCroix, Andrea ;

Zheng, Wei ;

Albanes, Demetrius ;

Bamlet, William ;

Berg, Christine D. ;

Berrino, Franco ;

Bingham, Sheila ;

Buring, Julie E. ;

Bracci, Paige M. ;

Canzian, Federico ;

Clavel-Chapelon, Francoise ;

Clipp, Sandra ;

Cotterchio, Michelle ;

de Andrade, Mariza ;

Duell, Eric J. ;

Fox, John W., Jr. ;

Gallinger, Steven ;

Gaziano, J. Michael ;

Giovannucci, Edward L. ;

Goggins, Michael ;

Gonzalez, Carlos A. ;

Hallmans, Goran ;

Hankinson, Susan E. ;

Hassan, Manal ;

Holly, Elizabeth A. ;

Hunter, David J. ;

Hutchinson, Amy ;

Jackson, Rebecca ;

Jacobs, Kevin B. ;

Jenab, Mazda ;

Kaaks, Rudolf ;

Klein, Alison P. ;

Kooperberg, Charles ;

Kurtz, Robert C. ;

Li, Donghui ;

Lynch, Shannon M. ;

Mandelson, Margaret ;

McWilliams, Robert R. ;

Mendelsohn, Julie B. ;

Michaud, Dominique S. .

NATURE GENETICS, 2009, 41 (09) :986-U47

[3] Common variants at 19p13 are associated with susceptibility to ovarian cancer [J].

Bolton, Kelly L. ;

Tyrer, Jonathan ;

Song, Honglin ;

Ramus, Susan J. ;

Notaridou, Maria ;

Jones, Chris ;

Sher, Tanya ;

Gentry-Maharaj, Aleksandra ;

Wozniak, Eva ;

Tsai, Ya-Yu ;

Weidhaas, Joanne ;

Paik, Daniel ;

Van den Berg, David J. ;

Stram, Daniel O. ;

Pearce, Celeste Leigh ;

Wu, Anna H. ;

Brewster, Wendy ;

Anton-Culver, Hoda ;

Ziogas, Argyrios ;

Narod, Steven A. ;

Levine, Douglas A. ;

Kaye, Stanley B. ;

Brown, Robert ;

Paul, Jim ;

Flanagan, James ;

Sieh, Weiva ;

McGuire, Valerie ;

Whittemore, Alice S. ;

Campbell, Ian ;

Gore, Martin E. ;

Lissowska, Jolanta ;

Yang, Hanna P. ;

Medrek, Krzysztof ;

Gronwald, Jacek ;

Lubinski, Jan ;

Jakubowska, Anna ;

Le, Nhu D. ;

Cook, Linda S. ;

Kelemen, Linda E. ;

Brook-Wilson, Angela ;

Massuger, Leon F. A. G. ;

Kiemeney, Lambertus A. ;

Aben, Katja K. H. ;

van Altena, Anne M. ;

Houlston, Richard ;

Tomlinson, Ian ;

Palmieri, Rachel T. ;

Moorman, Patricia G. ;

Schildkraut, Joellen ;

Iversen, Edwin S. .

NATURE GENETICS, 2010, 42 (10) :880-+

[4] Identification of seven new prostate cancer susceptibility loci through a genome-wide association study [J].

Eeles, Rosalind A. ;

Kote-Jarai, Zsofia ;

Al Olama, Ali Amin ;

Giles, Graham G. ;

Guy, Michelle ;

Severi, Gianluca ;

Muir, Kenneth ;

Hopper, John L. ;

Henderson, Brian E. ;

Haiman, Christopher A. ;

Schleutker, Johanna ;

Hamdy, Freddie C. ;

Neal, David E. ;

Donovan, Jenny L. ;

Stanford, Janet L. ;

Ostrander, Elaine A. ;

Ingles, Sue A. ;

John, Esther M. ;

Thibodeau, Stephen N. ;

Schaid, Daniel ;

Park, Jong Y. ;

Spurdle, Amanda ;

Clements, Judith ;

Dickinson, Joanne L. ;

Maier, Christiane ;

Vogel, Walther ;

Doerk, Thilo ;

Rebbeck, Timothy R. ;

Cooney, Kathleen A. ;

Cannon-Albright, Lisa ;

Chappuis, Pierre O. ;

Hutter, Pierre ;

Zeegers, Maurice ;

Kaneva, Radka ;

Zhang, Hong-Wei ;

Lu, Yong-Jie ;

Foulkes, William D. ;

English, Dallas R. ;

Leongamornlert, Daniel A. ;

Tymrakiewicz, Malgorzata ;

Morrison, Jonathan ;

Ardern-Jones, Audrey T. ;

Hall, Amanda L. ;

O'Brien, Lynne T. ;

Wilkinson, Rosemary A. ;

Saunders, Edward J. ;

Page, Elizabeth C. ;

Sawyer, Emma J. ;

Edwards, Stephen M. ;

Dearnaley, David P. .

NATURE GENETICS, 2009, 41 (10) :1116-U97

[5] A genome-wide association study identifies susceptibility loci for ovarian cancer at 2q31 and 8q24 [J].

Goode, Llen L. ;

Chenevix-Trench, Georgia ;

Song, Honglin ;

Ramus, Susan J. ;

Notaridou, Maria ;

Lawrenson, Kate ;

Widschwendter, Martin ;

Vierkant, Robert A. ;

Larson, Melissa C. ;

Kjaer, Susanne K. ;

Birrer, Michael J. ;

Berchuck, Andrew ;

Schildkraut, Joellen ;

Tomlinson, Ian ;

Kiemeney, Lambertus A. ;

Cook, Linda S. ;

Gronwald, Jacek ;

Garcia-Closas, Montserrat ;

Gore, Martin E. ;

Campbell, Ian ;

Whittemore, Alice S. ;

Sutphen, Rebecca ;

Phelan, Catherine ;

Anton-Culver, Hoda ;

Pearce, Celeste Leigh ;

Lambrechts, Diether ;

Rossing, Mary Anne ;

Chang-Claude, Jenny ;

Moysich, Kirsten B. ;

Goodman, Marc T. ;

Doerk, Thilo ;

Nevanlinna, Heli ;

Ness, Roberta B. ;

Rafnar, Thorunn ;

Hogdall, Claus ;

Hogdall, Estrid ;

Fridley, Brooke L. ;

Cunningham, Julie M. ;

Sieh, Weiva ;

McGuire, Valerie ;

Godwin, Andrew K. ;

Cramer, Daniel W. ;

Hernandez, Dena ;

Levine, Douglas ;

Lu, Karen ;

Iversen, Edwin S. ;

Palmieri, Rachel T. ;

Houlston, Richard ;

van Altena, Anne M. ;

Aben, Katja K. H. .

NATURE GENETICS, 2010, 42 (10) :874-+

[6]

Khoury MJ., 1993, FUNDAMENTALS GENETIC

[7] Confirmation of Family Cancer History Reported in a Population-Based Survey [J].

Mai, Phuong L. ;

Garceau, Anne O. ;

Graubard, Barry I. ;

Dunn, Marsha ;

McNeel, Timothy S. ;

Gonsalves, Lou ;

Gail, Mitchell H. ;

Greene, Mark H. ;

Willis, Gordon B. ;

Wideroff, Louise .

JNCI-JOURNAL OF THE NATIONAL CANCER INSTITUTE, 2011, 103 (10) :788-797

[8] Genotype imputation for genome-wide association studies [J].

Marchini, Jonathan ;

Howie, Bryan .

NATURE REVIEWS GENETICS, 2010, 11 (07) :499-511

[9]

Olson, 2002, BIOSTAT GENETICS GEN

[10] A genome-wide association study identifies pancreatic cancer susceptibility loci on chromosomes 13q22.1, 1q32.1 and 5p15.33 [J].

Petersen, Gloria M. ;

Amundadottir, Laufey ;

Fuchs, Charles S. ;

Kraft, Peter ;

Stolzenberg-Solomon, Rachael Z. ;

Jacobs, Kevin B. ;

Arslan, Alan A. ;

Bueno-de-Mesquita, H. Bas ;

Gallinger, Steven ;

Gross, Myron ;

Helzlsouer, Kathy ;

Holly, Elizabeth A. ;

Jacobs, Eric J. ;

Klein, Alison P. ;

LaCroix, Andrea ;

Li, Donghui ;

Mandelson, Margaret T. ;

Olson, Sara H. ;

Risch, Harvey A. ;

Zheng, Wei ;

Albanes, Demetrius ;

Bamlet, William R. ;

Berg, Christine D. ;

Boutron-Ruault, Marie-Christine ;

Buring, Julie E. ;

Bracci, Paige M. ;

Canzian, Federico ;

Clipp, Sandra ;

Cotterchio, Michelle ;

de Andrade, Mariza ;

Duell, Eric J. ;

Gaziano, J. Michael ;

Giovannucci, Edward L. ;

Goggins, Michael ;

Hallmans, Goran ;

Hankinson, Susan E. ;

Hassan, Manal ;

Howard, Barbara ;

Hunter, David J. ;

Hutchinson, Amy ;

Jenab, Mazda ;

Kaaks, Rudolf ;

Kooperberg, Charles ;

Krogh, Vittorio ;

Kurtz, Robert C. ;

Lynch, Shannon M. ;

McWilliams, Robert R. ;

Mendelsohn, Julie B. ;

Michaud, Dominique S. ;

Parikh, Hemang .

NATURE GENETICS, 2010, 42 (03) :224-U29

← 1 2 3 →