A genome-wide association study identifies a new ovarian cancer susceptibility locus on 9p22.2

Honglin Song; Susan J Ramus; Jonathan Tyrer; Kelly L Bolton; Aleksandra Gentry-Maharaj; Eva Wozniak; Hoda Anton-Culver; Jenny Chang-Claude; Daniel W Cramer; Richard DiCioccio; Thilo Dörk; Ellen L Goode; Marc T Goodman; Joellen M Schildkraut; Thomas Sellers; Laura Baglietto; Matthias W Beckmann; Jonathan Beesley; Jan Blaakaer; Michael E Carney; Stephen Chanock; Zhihua Chen; Julie M Cunningham; Ed Dicks; Jennifer A Doherty; Matthias Dürst; Arif B Ekici; David Fenstermacher; Brooke L Fridley; Graham Giles; Martin E Gore; Immaculata De Vivo; Peter Hillemanns; Claus Hogdall; Estrid Hogdall; Edwin S Iversen; Ian J Jacobs; Anna Jakubowska; Dong Li; Jolanta Lissowska; Jan Lubinski; Galina Lurie; Valerie McGuire; John McLaughlin; Krzysztof Medrek; Patricia G Moorman; Kirsten Moysich; Steven Narod; Catherine Phelan; Australian Cancer (Ovarian) Study; Australian Ovarian Cancer Study Group; Ovarian Cancer Association Consortium; Susanne Krüger Kjaer

doi:10.1038/ng.424

A genome-wide association study identifies a new ovarian cancer susceptibility locus on 9p22.2

Honglin Song, Susan J Ramus, Jonathan Tyrer, Kelly L Bolton, Aleksandra Gentry-Maharaj, Eva Wozniak, Hoda Anton-Culver, Jenny Chang-Claude, Daniel W Cramer, Richard DiCioccio, Thilo Dörk, Ellen L Goode, Marc T Goodman, Joellen M Schildkraut, Thomas Sellers, Laura Baglietto, Matthias W Beckmann, Jonathan Beesley, Jan Blaakaer, Michael E CarneyStephen Chanock, Zhihua Chen, Julie M Cunningham, Ed Dicks, Jennifer A Doherty, Matthias Dürst, Arif B Ekici, David Fenstermacher, Brooke L Fridley, Graham Giles, Martin E Gore, Immaculata De Vivo, Peter Hillemanns, Claus Hogdall, Estrid Hogdall, Edwin S Iversen, Ian J Jacobs, Anna Jakubowska, Dong Li, Jolanta Lissowska, Jan Lubinski, Galina Lurie, Valerie McGuire, John McLaughlin, Krzysztof Medrek, Patricia G Moorman, Kirsten Moysich, Steven Narod, Catherine Phelan, Australian Cancer (Ovarian) Study, Australian Ovarian Cancer Study Group, Ovarian Cancer Association Consortium, Susanne Krüger Kjaer

243 Citations (Scopus)

Abstract

Epithelial ovarian cancer has a major heritable component, but the known susceptibility genes explain less than half the excess familial risk. We performed a genome-wide association study (GWAS) to identify common ovarian cancer susceptibility alleles. We evaluated 507,094 SNPs genotyped in 1,817 cases and 2,353 controls from the UK and approximately 2 million imputed SNPs. We genotyped the 22,790 top ranked SNPs in 4,274 cases and 4,809 controls of European ancestry from Europe, USA and Australia. We identified 12 SNPs at 9p22 associated with disease risk (P < 10(-8)). The most significant SNP (rs3814113; P = 2.5 x 10(-17)) was genotyped in a further 2,670 ovarian cancer cases and 4,668 controls, confirming its association (combined data odds ratio (OR) = 0.82, 95% confidence interval (CI) 0.79-0.86, P(trend) = 5.1 x 10(-19)). The association differs by histological subtype, being strongest for serous ovarian cancers (OR 0.77, 95% CI 0.73-0.81, P(trend) = 4.1 x 10(-21)).

Original language	English
Journal	Nature Genetics
Volume	41
Issue number	9
Pages (from-to)	996-1000
Number of pages	4
ISSN	1061-4036
DOIs	https://doi.org/10.1038/ng.424
Publication status	Published - 2009

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Song, H., Ramus, S. J., Tyrer, J., Bolton, K. L., Gentry-Maharaj, A., Wozniak, E., Anton-Culver, H., Chang-Claude, J., Cramer, D. W., DiCioccio, R., Dörk, T., Goode, E. L., Goodman, M. T., Schildkraut, J. M., Sellers, T., Baglietto, L., Beckmann, M. W., Beesley, J., Blaakaer, J., ... Kjaer, S. K. (2009). A genome-wide association study identifies a new ovarian cancer susceptibility locus on 9p22.2. Nature Genetics, 41(9), 996-1000. https://doi.org/10.1038/ng.424

Song, H, Ramus, SJ, Tyrer, J, Bolton, KL, Gentry-Maharaj, A, Wozniak, E, Anton-Culver, H, Chang-Claude, J, Cramer, DW, DiCioccio, R, Dörk, T, Goode, EL, Goodman, MT, Schildkraut, JM, Sellers, T, Baglietto, L, Beckmann, MW, Beesley, J, Blaakaer, J, Carney, ME, Chanock, S, Chen, Z, Cunningham, JM, Dicks, E, Doherty, JA, Dürst, M, Ekici, AB, Fenstermacher, D, Fridley, BL, Giles, G, Gore, ME, De Vivo, I, Hillemanns, P, Hogdall, C, Hogdall, E, Iversen, ES, Jacobs, IJ, Jakubowska, A, Li, D, Lissowska, J, Lubinski, J, Lurie, G, McGuire, V, McLaughlin, J, Medrek, K, Moorman, PG, Moysich, K, Narod, S, Phelan, C, Australian Cancer (Ovarian) Study, Australian Ovarian Cancer Study Group, Ovarian Cancer Association Consortium & Kjaer, SK 2009, 'A genome-wide association study identifies a new ovarian cancer susceptibility locus on 9p22.2', Nature Genetics, vol. 41, no. 9, pp. 996-1000. https://doi.org/10.1038/ng.424

@article{841905e068a111df928f000ea68e967b,

title = "A genome-wide association study identifies a new ovarian cancer susceptibility locus on 9p22.2",

abstract = "Epithelial ovarian cancer has a major heritable component, but the known susceptibility genes explain less than half the excess familial risk. We performed a genome-wide association study (GWAS) to identify common ovarian cancer susceptibility alleles. We evaluated 507,094 SNPs genotyped in 1,817 cases and 2,353 controls from the UK and approximately 2 million imputed SNPs. We genotyped the 22,790 top ranked SNPs in 4,274 cases and 4,809 controls of European ancestry from Europe, USA and Australia. We identified 12 SNPs at 9p22 associated with disease risk (P < 10(-8)). The most significant SNP (rs3814113; P = 2.5 x 10(-17)) was genotyped in a further 2,670 ovarian cancer cases and 4,668 controls, confirming its association (combined data odds ratio (OR) = 0.82, 95% confidence interval (CI) 0.79-0.86, P(trend) = 5.1 x 10(-19)). The association differs by histological subtype, being strongest for serous ovarian cancers (OR 0.77, 95% CI 0.73-0.81, P(trend) = 4.1 x 10(-21)).",

author = "Honglin Song and Ramus, {Susan J} and Jonathan Tyrer and Bolton, {Kelly L} and Aleksandra Gentry-Maharaj and Eva Wozniak and Hoda Anton-Culver and Jenny Chang-Claude and Cramer, {Daniel W} and Richard DiCioccio and Thilo D{\"o}rk and Goode, {Ellen L} and Goodman, {Marc T} and Schildkraut, {Joellen M} and Thomas Sellers and Laura Baglietto and Beckmann, {Matthias W} and Jonathan Beesley and Jan Blaakaer and Carney, {Michael E} and Stephen Chanock and Zhihua Chen and Cunningham, {Julie M} and Ed Dicks and Doherty, {Jennifer A} and Matthias D{\"u}rst and Ekici, {Arif B} and David Fenstermacher and Fridley, {Brooke L} and Graham Giles and Gore, {Martin E} and {De Vivo}, Immaculata and Peter Hillemanns and Claus Hogdall and Estrid Hogdall and Iversen, {Edwin S} and Jacobs, {Ian J} and Anna Jakubowska and Dong Li and Jolanta Lissowska and Jan Lubinski and Galina Lurie and Valerie McGuire and John McLaughlin and Krzysztof Medrek and Moorman, {Patricia G} and Kirsten Moysich and Steven Narod and Catherine Phelan and {Australian Cancer (Ovarian) Study} and {Australian Ovarian Cancer Study Group} and {Ovarian Cancer Association Consortium} and Kjaer, {Susanne Kr{\"u}ger}",

note = "Keywords: Alleles; Australia; Base Sequence; Case-Control Studies; Chromosome Mapping; Chromosomes, Human, Pair 9; Confidence Intervals; Europe; European Continental Ancestry Group; Female; Gene Frequency; Genetic Predisposition to Disease; Genome-Wide Association Study; Genotype; Haplotypes; Heterozygote; Homozygote; Humans; Linkage Disequilibrium; Molecular Sequence Data; Odds Ratio; Ovarian Neoplasms; Polymorphism, Single Nucleotide; Risk Factors; United States",

year = "2009",

doi = "10.1038/ng.424",

language = "English",

volume = "41",

pages = "996--1000",

journal = "Nature Genetics",

issn = "1061-4036",

publisher = "nature publishing group",

number = "9",

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TY - JOUR

T1 - A genome-wide association study identifies a new ovarian cancer susceptibility locus on 9p22.2

AU - Song, Honglin

AU - Ramus, Susan J

AU - Tyrer, Jonathan

AU - Bolton, Kelly L

AU - Gentry-Maharaj, Aleksandra

AU - Wozniak, Eva

AU - Anton-Culver, Hoda

AU - Chang-Claude, Jenny

AU - Cramer, Daniel W

AU - DiCioccio, Richard

AU - Dörk, Thilo

AU - Goode, Ellen L

AU - Goodman, Marc T

AU - Schildkraut, Joellen M

AU - Sellers, Thomas

AU - Baglietto, Laura

AU - Beckmann, Matthias W

AU - Beesley, Jonathan

AU - Blaakaer, Jan

AU - Carney, Michael E

AU - Chanock, Stephen

AU - Chen, Zhihua

AU - Cunningham, Julie M

AU - Dicks, Ed

AU - Doherty, Jennifer A

AU - Dürst, Matthias

AU - Ekici, Arif B

AU - Fenstermacher, David

AU - Fridley, Brooke L

AU - Giles, Graham

AU - Gore, Martin E

AU - De Vivo, Immaculata

AU - Hillemanns, Peter

AU - Hogdall, Claus

AU - Hogdall, Estrid

AU - Iversen, Edwin S

AU - Jacobs, Ian J

AU - Jakubowska, Anna

AU - Li, Dong

AU - Lissowska, Jolanta

AU - Lubinski, Jan

AU - Lurie, Galina

AU - McGuire, Valerie

AU - McLaughlin, John

AU - Medrek, Krzysztof

AU - Moorman, Patricia G

AU - Moysich, Kirsten

AU - Narod, Steven

AU - Phelan, Catherine

AU - Australian Cancer (Ovarian) Study

AU - Australian Ovarian Cancer Study Group

AU - Ovarian Cancer Association Consortium

AU - Kjaer, Susanne Krüger

N1 - Keywords: Alleles; Australia; Base Sequence; Case-Control Studies; Chromosome Mapping; Chromosomes, Human, Pair 9; Confidence Intervals; Europe; European Continental Ancestry Group; Female; Gene Frequency; Genetic Predisposition to Disease; Genome-Wide Association Study; Genotype; Haplotypes; Heterozygote; Homozygote; Humans; Linkage Disequilibrium; Molecular Sequence Data; Odds Ratio; Ovarian Neoplasms; Polymorphism, Single Nucleotide; Risk Factors; United States

PY - 2009

Y1 - 2009

N2 - Epithelial ovarian cancer has a major heritable component, but the known susceptibility genes explain less than half the excess familial risk. We performed a genome-wide association study (GWAS) to identify common ovarian cancer susceptibility alleles. We evaluated 507,094 SNPs genotyped in 1,817 cases and 2,353 controls from the UK and approximately 2 million imputed SNPs. We genotyped the 22,790 top ranked SNPs in 4,274 cases and 4,809 controls of European ancestry from Europe, USA and Australia. We identified 12 SNPs at 9p22 associated with disease risk (P < 10(-8)). The most significant SNP (rs3814113; P = 2.5 x 10(-17)) was genotyped in a further 2,670 ovarian cancer cases and 4,668 controls, confirming its association (combined data odds ratio (OR) = 0.82, 95% confidence interval (CI) 0.79-0.86, P(trend) = 5.1 x 10(-19)). The association differs by histological subtype, being strongest for serous ovarian cancers (OR 0.77, 95% CI 0.73-0.81, P(trend) = 4.1 x 10(-21)).

AB - Epithelial ovarian cancer has a major heritable component, but the known susceptibility genes explain less than half the excess familial risk. We performed a genome-wide association study (GWAS) to identify common ovarian cancer susceptibility alleles. We evaluated 507,094 SNPs genotyped in 1,817 cases and 2,353 controls from the UK and approximately 2 million imputed SNPs. We genotyped the 22,790 top ranked SNPs in 4,274 cases and 4,809 controls of European ancestry from Europe, USA and Australia. We identified 12 SNPs at 9p22 associated with disease risk (P < 10(-8)). The most significant SNP (rs3814113; P = 2.5 x 10(-17)) was genotyped in a further 2,670 ovarian cancer cases and 4,668 controls, confirming its association (combined data odds ratio (OR) = 0.82, 95% confidence interval (CI) 0.79-0.86, P(trend) = 5.1 x 10(-19)). The association differs by histological subtype, being strongest for serous ovarian cancers (OR 0.77, 95% CI 0.73-0.81, P(trend) = 4.1 x 10(-21)).

U2 - 10.1038/ng.424

DO - 10.1038/ng.424

M3 - Journal article

C2 - 19648919

SN - 1061-4036

VL - 41

SP - 996

EP - 1000

JO - Nature Genetics

JF - Nature Genetics

IS - 9

ER -

A genome-wide association study identifies a new ovarian cancer susceptibility locus on 9p22.2

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