Genome-Wide Association Study of Classical Hodgkin Lymphoma and
Epstein-Barr Virus Status-Defined Subgroups

J 2012

Genome-Wide Association Study of Classical Hodgkin Lymphoma and Epstein-Barr Virus Status-Defined Subgroups

URAYAMA, Kevin Y.; Ruth F. JARRETT; Henrik HJALGRIM; Arjan DIEPSTRA; Yoichiro KAMATANI et al.

Základní údaje

Originální název

Genome-Wide Association Study of Classical Hodgkin Lymphoma and Epstein-Barr Virus Status-Defined Subgroups

Autoři

URAYAMA, Kevin Y.; Ruth F. JARRETT; Henrik HJALGRIM; Arjan DIEPSTRA; Yoichiro KAMATANI; Amelie CHABRIER; Valerie GABORIEAU; Anne BOLAND; Alexandra NIETERS; Nikolaus BECKER; Lenka FORETOVÁ; Yolanda BENAVENTE; Marc MAYNADIE; Anthony STAINES; Lesley SHIELD; Annette LAKE; Dorothy MONTGOMERY; Malcolm TAYLOR; Karin Ekstrom SMEDBY; Rose-Marie AMINI; Hans-Olov ADAMI; Bengt GLIMELIUS; Bjarke FEENSTRA; Ilja M. NOLTE; Lydia VISSER; Gustaaf W. VAN IMHOFF; Tracy LIGHTFOOT; Pierluigi COCCO; Lambertus KIEMENEY; Sita H. VERMEULEN; Ivana HOLCATOVÁ; Lars VATTEN; Gary J. MACFARLANE; Peter THOMSON; David I. CONWAY; Simone BENHAMOU; Antonio AGUDO; Claire M. HEALY; Kim OVERVAD; Anne TJONNELAND; Beatrice MELIN; Federico CANZIAN; Kay-Tee KHAW; Ruth C. TRAVIS; Petra H. M. PEETERS; Carlos A. GONZALEZ; Jose Ramon QUIROS; Maria-Jose SANCHEZ; Jose MARIA HUERTA; Eva ARDANAZ; Miren DORRONSORO; Francoise CLAVEL-CHAPELON; H. Bas BUENO-DE-MESQUITA; Elio RIBOLI; Eve ROMAN; Paolo BOFFETTA; Silvia DE SANJOSE; Diana ZELENIKA; Mads MELBYE; Anke VAN DEN BERG; Mark LATHROP; Paul BRENNAN a James D. MCKAY

Vydání

Journal of the National Cancer Institute, Bethesda, National Cancer Institute, 2012, 0027-8874

Další údaje

Jazyk

angličtina

Typ výsledku

Článek v odborném periodiku

Obor

30200 3.2 Clinical medicine

Stát vydavatele

Spojené státy

Utajení

není předmětem státního či obchodního tajemství

Impakt faktor

Impact factor: 14.336

Označené pro přenos do RIV

Organizační jednotka

Lékařská fakulta

DOI

https://doi.org/10.1093/jnci/djr516

UT WoS

000300343000012

Klíčová slova anglicky

REED-STERNBERG CELLS; INFECTIOUS-MONONUCLEOSIS; SUSCEPTIBILITY LOCI; ENDOPLASMIC-RETICULUM; DISEASE HD; CLASS-I; RISK; GENES; POPULATION; PSORIASIS

Příznaky

Mezinárodní význam, Recenzováno

Změněno: 23. 4. 2014 14:45, Soňa Böhmová

Anotace

V originále

Accumulating evidence suggests that risk factors for classical Hodgkin lymphoma (cHL) differ by tumor Epstein-Barr virus (EBV) status. This potential etiological heterogeneity is not recognized in current disease classification. We conducted a genome-wide association study of 1200 cHL patients and 6417 control subjects, with validation in an independent replication series, to identify common genetic variants associated with total cHL and subtypes defined by tumor EBV status. Multiple logistic regression was used to calculate odds ratios (ORs) and 95% confidence intervals (CIs) assuming a log-additive genetic model for the variants. All statistical tests were two-sided. Two novel loci associated with total cHL irrespective of EBV status were identified in the major histocompatibility complex region; one resides adjacent to MICB (rs2248462: OR = 0.61, 95% CI = 0.53 to 0.69, P = 1.3 x 10(-13)) and the other at HLA-DRA (rs2395185: OR = 0.56, 95% CI = 0.50 to 0.62, P = 8.3 x 10(-25)) with both results confirmed in an independent replication series. Consistent with previous reports, associations were found between EBV-positive cHL and genetic variants within the class I region (rs2734986, HLA-A: OR = 2.45, 95% CI = 2.00 to 3.00, P = 1.2 x 10(-15); rs6904029, HCG9: OR = 0.46, 95% CI = 0.36 to 0.59, P = 5.5 x 10(-10)) and between EBV-negative cHL and rs6903608 within the class II region (rs6903608, HLA-DRA: OR = 2.08, 95% CI = 1.84 to 2.35, P = 6.1 x 10(-31)). The association between rs6903608 and EBV-negative cHL was confined to the nodular sclerosis histological subtype. Evidence for an association between EBV-negative cHL and rs20541 (5q31, IL13: OR = 1.53, 95% CI = 1.32 to 1.76, P = 5.4 x 10(-9)), a variant previously linked to psoriasis and asthma, was observed; however, the evidence for replication was less clear. Notably, one additional psoriasis-associated variant, rs27524 (5q15, ERAP1), showed evidence of an association with cHL in the genome-wide association study (OR = 1.21, 95% CI = 1.10 to 1.33, P = 1.5 x 10(-4)) and replication series (P = .03). Overall, these results provide strong evidence that EBV status is an etiologically important classification of cHL and also suggest that some components of the pathological process are common to both EBV-positive and EBV-negative patients.

Citovat

@article{1089657,
   author = {Urayama, Kevin Y. and Jarrett, Ruth F. and Hjalgrim, Henrik and Diepstra, Arjan and Kamatani, Yoichiro and Chabrier, Amelie and Gaborieau, Valerie and Boland, Anne and Nieters, Alexandra and Becker, Nikolaus and Foretová, Lenka and Benavente, Yolanda and Maynadie, Marc and Staines, Anthony and Shield, Lesley and Lake, Annette and Montgomery, Dorothy and Taylor, Malcolm and Smedby, Karin Ekstrom and Amini, RoseandMarie and Adami, HansandOlov and Glimelius, Bengt and Feenstra, Bjarke and Nolte, Ilja M. and Visser, Lydia and van Imhoff, Gustaaf W. and Lightfoot, Tracy and Cocco, Pierluigi and Kiemeney, Lambertus and Vermeulen, Sita H. and Holcatová, Ivana and Vatten, Lars and Macfarlane, Gary J. and Thomson, Peter and Conway, David I. and Benhamou, Simone and Agudo, Antonio and Healy, Claire M. and Overvad, Kim and Tjonneland, Anne and Melin, Beatrice and Canzian, Federico and Khaw, KayandTee and Travis, Ruth C. and Peeters, Petra H. M. and Gonzalez, Carlos A. and Quiros, Jose Ramon and Sanchez, MariaandJose and Maria Huerta, Jose and Ardanaz, Eva and Dorronsoro, Miren and ClavelandChapelon, Francoise and BuenoanddeandMesquita, H. Bas and Riboli, Elio and Roman, Eve and Boffetta, Paolo and de Sanjose, Silvia and Zelenika, Diana and Melbye, Mads and van den Berg, Anke and Lathrop, Mark and Brennan, Paul and McKay, James D.},
   article_location = {Bethesda},
   article_number = {3},
   doi = {https://doi.org/10.1093/jnci/djr516},
   keywords = {REED-STERNBERG CELLS; INFECTIOUS-MONONUCLEOSIS; SUSCEPTIBILITY LOCI; ENDOPLASMIC-RETICULUM; DISEASE HD; CLASS-I; RISK; GENES; POPULATION; PSORIASIS},
   language = {eng},
   issn = {0027-8874},
   journal = {Journal of the National Cancer Institute},
   title = {Genome-Wide Association Study of Classical Hodgkin Lymphoma and Epstein-Barr Virus Status-Defined Subgroups},
   volume = {104},
   year = {2012}
}

TY  - JOUR
ID  - 1089657
AU  - Urayama, Kevin Y. - Jarrett, Ruth F. - Hjalgrim, Henrik - Diepstra, Arjan - Kamatani, Yoichiro - Chabrier, Amelie - Gaborieau, Valerie - Boland, Anne - Nieters, Alexandra - Becker, Nikolaus - Foretová, Lenka - Benavente, Yolanda - Maynadie, Marc - Staines, Anthony - Shield, Lesley - Lake, Annette - Montgomery, Dorothy - Taylor, Malcolm - Smedby, Karin Ekstrom - Amini, Rose-Marie - Adami, Hans-Olov - Glimelius, Bengt - Feenstra, Bjarke - Nolte, Ilja M. - Visser, Lydia - van Imhoff, Gustaaf W. - Lightfoot, Tracy - Cocco, Pierluigi - Kiemeney, Lambertus - Vermeulen, Sita H. - Holcatová, Ivana - Vatten, Lars - Macfarlane, Gary J. - Thomson, Peter - Conway, David I. - Benhamou, Simone - Agudo, Antonio - Healy, Claire M. - Overvad, Kim - Tjonneland, Anne - Melin, Beatrice - Canzian, Federico - Khaw, Kay-Tee - Travis, Ruth C. - Peeters, Petra H. M. - Gonzalez, Carlos A. - Quiros, Jose Ramon - Sanchez, Maria-Jose - Maria Huerta, Jose - Ardanaz, Eva - Dorronsoro, Miren - Clavel-Chapelon, Francoise - Bueno-de-Mesquita, H. Bas - Riboli, Elio - Roman, Eve - Boffetta, Paolo - de Sanjose, Silvia - Zelenika, Diana - Melbye, Mads - van den Berg, Anke - Lathrop, Mark - Brennan, Paul - McKay, James D.
PY  - 2012
TI  - Genome-Wide Association Study of Classical Hodgkin Lymphoma and Epstein-Barr Virus Status-Defined Subgroups
JF  - Journal of the National Cancer Institute
VL  - 104
IS  - 3
SP  - 240-253
EP  - 240-253
PB  - National Cancer Institute
SN  - 00278874
KW  - REED-STERNBERG CELLS
KW  - INFECTIOUS-MONONUCLEOSIS
KW  - SUSCEPTIBILITY LOCI
KW  - ENDOPLASMIC-RETICULUM
KW  - DISEASE HD
KW  - CLASS-I
KW  - RISK
KW  - GENES
KW  - POPULATION
KW  - PSORIASIS
N2  - Accumulating evidence suggests that risk factors for classical Hodgkin lymphoma (cHL) differ by tumor Epstein-Barr virus (EBV) status. This potential etiological heterogeneity is not recognized in current disease classification. We conducted a genome-wide association study of 1200 cHL patients and 6417 control subjects, with validation in an independent replication series, to identify common genetic variants associated with total cHL and subtypes defined by tumor EBV status. Multiple logistic regression was used to calculate odds ratios (ORs) and 95% confidence intervals (CIs) assuming a log-additive genetic model for the variants. All statistical tests were two-sided. Two novel loci associated with total cHL irrespective of EBV status were identified in the major histocompatibility complex region; one resides adjacent to MICB (rs2248462: OR = 0.61, 95% CI = 0.53 to 0.69, P = 1.3 x 10(-13)) and the other at HLA-DRA (rs2395185: OR = 0.56, 95% CI = 0.50 to 0.62, P = 8.3 x 10(-25)) with both results confirmed in an independent replication series. Consistent with previous reports, associations were found between EBV-positive cHL and genetic variants within the class I region (rs2734986, HLA-A: OR = 2.45, 95% CI = 2.00 to 3.00, P = 1.2 x 10(-15); rs6904029, HCG9: OR = 0.46, 95% CI = 0.36 to 0.59, P = 5.5 x 10(-10)) and between EBV-negative cHL and rs6903608 within the class II region (rs6903608, HLA-DRA: OR = 2.08, 95% CI = 1.84 to 2.35, P = 6.1 x 10(-31)). The association between rs6903608 and EBV-negative cHL was confined to the nodular sclerosis histological subtype. Evidence for an association between EBV-negative cHL and rs20541 (5q31, IL13: OR = 1.53, 95% CI = 1.32 to 1.76, P = 5.4 x 10(-9)), a variant previously linked to psoriasis and asthma, was observed; however, the evidence for replication was less clear. Notably, one additional psoriasis-associated variant, rs27524 (5q15, ERAP1), showed evidence of an association with cHL in the genome-wide association study (OR = 1.21, 95% CI = 1.10 to 1.33, P = 1.5 x 10(-4)) and replication series (P = .03). Overall, these results provide strong evidence that EBV status is an etiologically important classification of cHL and also suggest that some components of the pathological process are common to both EBV-positive and EBV-negative patients.
ER  -

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