Genome-Wide Interaction Analysis of Genetic Variants With Menopausal Hormone Therapy for Colorectal Cancer Risk.


Journal

Journal of the National Cancer Institute
ISSN: 1460-2105
Titre abrégé: J Natl Cancer Inst
Pays: United States
ID NLM: 7503089

Informations de publication

Date de publication:
08 08 2022
Historique:
received: 31 08 2021
revised: 17 02 2022
accepted: 26 04 2022
pubmed: 6 5 2022
medline: 11 8 2022
entrez: 5 5 2022
Statut: ppublish

Résumé

The use of menopausal hormone therapy (MHT) may interact with genetic variants to influence colorectal cancer (CRC) risk. We conducted a genome-wide, gene-environment interaction between single nucleotide polymorphisms and the use of any MHT, estrogen only, and combined estrogen-progestogen therapy with CRC risk, among 28 486 postmenopausal women (11 519 CRC patients and 16 967 participants without CRC) from 38 studies, using logistic regression, 2-step method, and 2- or 3-degree-of-freedom joint test. A set-based score test was applied for rare genetic variants. The use of any MHT, estrogen only and estrogen-progestogen were associated with a reduced CRC risk (odds ratio [OR] = 0.71, 95% confidence interval [CI] = 0.64 to 0.78; OR = 0.65, 95% CI = 0.53 to 0.79; and OR = 0.73, 95% CI = 0.59 to 0.90, respectively). The 2-step method identified a statistically significant interaction between a GRIN2B variant rs117868593 and MHT use, whereby MHT-associated CRC risk was statistically significantly reduced in women with the GG genotype (OR = 0.68, 95% CI = 0.64 to 0.72) but not within strata of GC or CC genotypes. A statistically significant interaction between a DCBLD1 intronic variant at 6q22.1 (rs10782186) and MHT use was identified by the 2-degree-of-freedom joint test. The MHT-associated CRC risk was reduced with increasing number of rs10782186-C alleles, showing odds ratios of 0.78 (95% CI = 0.70 to 0.87) for TT, 0.68 (95% CI = 0.63 to 0.73) for TC, and 0.66 (95% CI = 0.60 to 0.74) for CC genotypes. In addition, 5 genes in rare variant analysis showed suggestive interactions with MHT (2-sided P < 1.2 × 10-4). Genetic variants that modify the association between MHT and CRC risk were identified, offering new insights into pathways of CRC carcinogenesis and potential mechanisms involved.

Sections du résumé

BACKGROUND
The use of menopausal hormone therapy (MHT) may interact with genetic variants to influence colorectal cancer (CRC) risk.
METHODS
We conducted a genome-wide, gene-environment interaction between single nucleotide polymorphisms and the use of any MHT, estrogen only, and combined estrogen-progestogen therapy with CRC risk, among 28 486 postmenopausal women (11 519 CRC patients and 16 967 participants without CRC) from 38 studies, using logistic regression, 2-step method, and 2- or 3-degree-of-freedom joint test. A set-based score test was applied for rare genetic variants.
RESULTS
The use of any MHT, estrogen only and estrogen-progestogen were associated with a reduced CRC risk (odds ratio [OR] = 0.71, 95% confidence interval [CI] = 0.64 to 0.78; OR = 0.65, 95% CI = 0.53 to 0.79; and OR = 0.73, 95% CI = 0.59 to 0.90, respectively). The 2-step method identified a statistically significant interaction between a GRIN2B variant rs117868593 and MHT use, whereby MHT-associated CRC risk was statistically significantly reduced in women with the GG genotype (OR = 0.68, 95% CI = 0.64 to 0.72) but not within strata of GC or CC genotypes. A statistically significant interaction between a DCBLD1 intronic variant at 6q22.1 (rs10782186) and MHT use was identified by the 2-degree-of-freedom joint test. The MHT-associated CRC risk was reduced with increasing number of rs10782186-C alleles, showing odds ratios of 0.78 (95% CI = 0.70 to 0.87) for TT, 0.68 (95% CI = 0.63 to 0.73) for TC, and 0.66 (95% CI = 0.60 to 0.74) for CC genotypes. In addition, 5 genes in rare variant analysis showed suggestive interactions with MHT (2-sided P < 1.2 × 10-4).
CONCLUSION
Genetic variants that modify the association between MHT and CRC risk were identified, offering new insights into pathways of CRC carcinogenesis and potential mechanisms involved.

Identifiants

pubmed: 35512400
pii: 6581085
doi: 10.1093/jnci/djac094
pmc: PMC9360460
doi:

Substances chimiques

Estrogens 0
Progestins 0

Types de publication

Journal Article Research Support, Non-U.S. Gov't Research Support, N.I.H., Extramural

Langues

eng

Sous-ensembles de citation

IM

Pagination

1135-1148

Subventions

Organisme : NCI NIH HHS
ID : P30 CA015704
Pays : United States
Organisme : NIH HHS
ID : S10 OD028685
Pays : United States
Organisme : NCI NIH HHS
ID : U01 CA137088
Pays : United States
Organisme : NCI NIH HHS
ID : R01 CA189184
Pays : United States
Organisme : NCI NIH HHS
ID : U01 CA206110
Pays : United States
Organisme : NHLBI NIH HHS
ID : HHSN268201200008C
Pays : United States
Organisme : NCI NIH HHS
ID : U01 CA167551
Pays : United States
Organisme : NCI NIH HHS
ID : R01 CA207371
Pays : United States
Organisme : NCI NIH HHS
ID : P01 CA196569
Pays : United States
Organisme : NHLBI NIH HHS
ID : HHSN268201200008I
Pays : United States

Informations de copyright

© The Author(s) 2022. Published by Oxford University Press. All rights reserved. For permissions, please email: journals.permissions@oup.com.

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Auteurs

Yu Tian (Y)

Division of Cancer Epidemiology, German Cancer Research Center (DKFZ), Heidelberg, Germany.
School of Public Health, Capital Medical University, Beijing, China.

Andre E Kim (AE)

Division of Biostatistics, Department of Population and Public Health Sciences, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA.

Stephanie A Bien (SA)

Public Health Sciences Division, Fred Hutchinson Cancer Research Center, Seattle, WA, USA.

Yi Lin (Y)

Public Health Sciences Division, Fred Hutchinson Cancer Research Center, Seattle, WA, USA.

Conghui Qu (C)

Public Health Sciences Division, Fred Hutchinson Cancer Research Center, Seattle, WA, USA.

Tabitha A Harrison (TA)

Public Health Sciences Division, Fred Hutchinson Cancer Research Center, Seattle, WA, USA.

Robert Carreras-Torres (R)

Colorectal Cancer Group, ONCOBELL Program, Bellvitge Biomedical Research Institute (IDIBELL), L'Hospitalet de Llobregat, Barcelona, Spain.
Oncology Data Analytics Program, Catalan Institute of Oncology, L'Hospitalet de Llobregat, Barcelona, Spain.
Consortium for Biomedical Research in Epidemiology and Public Health (CIBERESP), Madrid, Spain.

Virginia Díez-Obrero (V)

Colorectal Cancer Group, ONCOBELL Program, Bellvitge Biomedical Research Institute (IDIBELL), L'Hospitalet de Llobregat, Barcelona, Spain.
Oncology Data Analytics Program, Catalan Institute of Oncology, L'Hospitalet de Llobregat, Barcelona, Spain.
Consortium for Biomedical Research in Epidemiology and Public Health (CIBERESP), Madrid, Spain.

Niki Dimou (N)

Nutrition and Metabolism Branch, International Agency for Research on Cancer, Lyon, France.

David A Drew (DA)

Clinical and Translational Epidemiology Unit, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.
Division of Gastroenterology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.

Akihisa Hidaka (A)

Public Health Sciences Division, Fred Hutchinson Cancer Research Center, Seattle, WA, USA.

Jeroen R Huyghe (JR)

Public Health Sciences Division, Fred Hutchinson Cancer Research Center, Seattle, WA, USA.

Kristina M Jordahl (KM)

Public Health Sciences Division, Fred Hutchinson Cancer Research Center, Seattle, WA, USA.
Department of Epidemiology, University of Washington School of Public Health, Seattle, WA, USA.

John Morrison (J)

Division of Biostatistics, Department of Population and Public Health Sciences, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA.

Neil Murphy (N)

Nutrition and Metabolism Branch, International Agency for Research on Cancer, Lyon, France.

Mireia Obón-Santacana (M)

Colorectal Cancer Group, ONCOBELL Program, Bellvitge Biomedical Research Institute (IDIBELL), L'Hospitalet de Llobregat, Barcelona, Spain.
Oncology Data Analytics Program, Catalan Institute of Oncology, L'Hospitalet de Llobregat, Barcelona, Spain.
Consortium for Biomedical Research in Epidemiology and Public Health (CIBERESP), Madrid, Spain.

Cornelia M Ulrich (CM)

Huntsman Cancer Institute, Salt Lake City, UT, USA.
Department of Population Health Sciences, University of Utah, Salt Lake City, UT, USA.

Jennifer Ose (J)

Huntsman Cancer Institute, Salt Lake City, UT, USA.
Department of Population Health Sciences, University of Utah, Salt Lake City, UT, USA.

Anita R Peoples (AR)

Huntsman Cancer Institute, Salt Lake City, UT, USA.
Department of Population Health Sciences, University of Utah, Salt Lake City, UT, USA.

Edward A Ruiz-Narvaez (EA)

Department of Nutritional Sciences, University of Michigan School of Public Health, Ann Arbor, MI, USA.

Anna Shcherbina (A)

Biomedical Informatics Program, Department of Biomedical Data Sciences, Stanford University, Stanford, CA, USA.

Mariana C Stern (MC)

Division of Biostatistics, Department of Population and Public Health Sciences & USC Norris Comprehensive Cancer Center, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA.

Yu-Ru Su (YR)

Public Health Sciences Division, Fred Hutchinson Cancer Research Center, Seattle, WA, USA.
Kaiser Permanente Washington Health Research Institute, Seattle, WA, USA.

Franzel J B van Duijnhoven (FJB)

Division of Human Nutrition and Health, Wageningen University & Research, Wageningen, The Netherlands.

Volker Arndt (V)

Division of Clinical Epidemiology and Aging Research, German Cancer Research Center (DKFZ), Heidelberg, Germany.

James W Baurley (JW)

Bioinformatics and Data Science Research Center, Bina Nusantara University, Jakarta, Indonesia.
BioRealm LLC, Walnut, CA, USA.

Sonja I Berndt (SI)

Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA.

D Timothy Bishop (DT)

Leeds Institute of Cancer and Pathology, University of Leeds, Leeds, UK.

Hermann Brenner (H)

Division of Clinical Epidemiology and Aging Research, German Cancer Research Center (DKFZ), Heidelberg, Germany.
Division of Preventive Oncology, German Cancer Research Center (DKFZ) and National Center for Tumor Diseases (NCT), Heidelberg, Germany.
German Cancer Consortium (DKTK), German Cancer Research Center (DKFZ), Heidelberg, Germany.

Daniel D Buchanan (DD)

Colorectal Oncogenomics Group, Department of Clinical Pathology, The University of Melbourne, Parkville, Victoria, Australia.
University of Melbourne Centre for Cancer Research, Victorian Comprehensive Cancer Centre, Parkville, Victoria, Australia.
Genomic Medicine and Family Cancer Clinic, The Royal Melbourne Hospital, Parkville, Victoria, Australia.

Andrew T Chan (AT)

Clinical and Translational Epidemiology Unit, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.
Division of Gastroenterology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.
Channing Division of Network Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA.
Broad Institute of Harvard and MIT, Cambridge, MA, USA.
Department of Epidemiology, Harvard T.H. Chan School of Public Health, Harvard University, Boston, MA, USA.
Department of Immunology and Infectious Diseases, Harvard T.H. Chan School of Public Health, Harvard University, Boston, MA, USA.

Jane C Figueiredo (JC)

Department of Medicine, Samuel Oschin Comprehensive Cancer Institute, Cedars-Sinai Medical Center, Los Angeles, CA, USA.
Department of Population and Public Health Sciences, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA.

Steven Gallinger (S)

Lunenfeld Tanenbaum Research Institute, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada.

Stephen B Gruber (SB)

Division of Biostatistics, Department of Population and Public Health Sciences & USC Norris Comprehensive Cancer Center, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA.

Sophia Harlid (S)

Department of Radiation Sciences, Oncology Unit, Umeå University, Umeå, Sweden.

Michael Hoffmeister (M)

Division of Clinical Epidemiology and Aging Research, German Cancer Research Center (DKFZ), Heidelberg, Germany.

Mark A Jenkins (MA)

Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne, Melbourne, Victoria, Australia.

Amit D Joshi (AD)

Department of Epidemiology, Harvard T.H. Chan School of Public Health, Harvard University, Boston, MA, USA.

Temitope O Keku (TO)

Center for Gastrointestinal Biology and Disease, University of North Carolina, Chapel Hill, NC, USA.

Susanna C Larsson (SC)

Institute of Environmental Medicine, Karolinska Institute, Stockholm, Sweden.

Loic Le Marchand (L)

University of Hawaii Cancer Center, Honolulu, HI, USA.

Li Li (L)

Department of Family Medicine, University of Virginia, Charlottesville, VA, USA.

Graham G Giles (GG)

Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne, Melbourne, Victoria, Australia.
Cancer Epidemiology Division, Cancer Council Victoria, Melbourne, Victoria, Australia.
Precision Medicine, School of Clinical Sciences at Monash Health, Monash University, Clayton, Victoria, Australia.

Roger L Milne (RL)

Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne, Melbourne, Victoria, Australia.
Cancer Epidemiology Division, Cancer Council Victoria, Melbourne, Victoria, Australia.
Precision Medicine, School of Clinical Sciences at Monash Health, Monash University, Clayton, Victoria, Australia.

Hongmei Nan (H)

Department of Global Health, Richard M. Fairbanks School of Public Health, Indianapolis, IN, USA.
Department of Epidemiology, Richard M. Fairbanks School of Public Health, Indianapolis, IN, USA.

Rami Nassir (R)

Department of Pathology, School of Medicine, Umm Al-Qura'a University, Mecca, Saudi Arabia.

Shuji Ogino (S)

Broad Institute of Harvard and MIT, Cambridge, MA, USA.
Department of Epidemiology, Harvard T.H. Chan School of Public Health, Harvard University, Boston, MA, USA.
Program in MPE Molecular Pathological Epidemiology, Department of Pathology, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA.
Department of Oncologic Pathology, Dana-Farber Cancer Institute, Boston, MA, USA.

Arif Budiarto (A)

Bioinformatics and Data Science Research Center, Bina Nusantara University, Jakarta, Indonesia.

Elizabeth A Platz (EA)

Department of Epidemiology, Johns Hopkins Bloomberg School of Public Health, Baltimore, MD, USA.

John D Potter (JD)

Public Health Sciences Division, Fred Hutchinson Cancer Research Center, Seattle, WA, USA.
Research Centre for Hauora and Health, Massey University, Wellington, New Zealand.

Ross L Prentice (RL)

Public Health Sciences Division, Fred Hutchinson Cancer Research Center, Seattle, WA, USA.
Department of Biostatistics, University of Washington, Seattle, WA, USA.

Gad Rennert (G)

Department of Community Medicine and Epidemiology, Lady Davis Carmel Medical Center, Haifa, Israel.
Ruth and Bruce Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel.
Clalit National Cancer Control Center, Haifa, Israel.

Lori C Sakoda (LC)

Public Health Sciences Division, Fred Hutchinson Cancer Research Center, Seattle, WA, USA.
Division of Research, Kaiser Permanente Northern California, Oakland, CA, USA.

Robert E Schoen (RE)

Department of Medicine and Epidemiology, University of Pittsburgh Medical Center, Pittsburgh, PA, USA.

Martha L Slattery (ML)

Department of Internal Medicine, University of Utah, Salt Lake City, UT, USA.

Stephen N Thibodeau (SN)

Division of Laboratory Genetics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.

Bethany Van Guelpen (B)

Department of Radiation Sciences, Oncology Unit, Umeå University, Umeå, Sweden.
Wallenberg Centre for Molecular Medicine, Umeå University, Umeå, Sweden.

Kala Visvanathan (K)

Department of Epidemiology, Johns Hopkins Bloomberg School of Public Health, Baltimore, MD, USA.

Emily White (E)

Public Health Sciences Division, Fred Hutchinson Cancer Research Center, Seattle, WA, USA.
Department of Epidemiology, University of Washington School of Public Health, Seattle, WA, USA.

Alicja Wolk (A)

Institute of Environmental Medicine, Karolinska Institute, Stockholm, Sweden.

Michael O Woods (MO)

Memorial University of Newfoundland, Discipline of Genetics, St. John's, NL,Canada.

Anna H Wu (AH)

Department of Population and Public Health Sciences, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA.

Peter T Campbell (PT)

Department of Population Science, American Cancer Society, Atlanta, GA, USA.

Graham Casey (G)

Center for Public Health Genomics, University of Virginia, Charlottesville, VA, USA.

David V Conti (DV)

Division of Biostatistics, Department of Population and Public Health Sciences & USC Norris Comprehensive Cancer Center, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA.

Marc J Gunter (MJ)

Nutrition and Metabolism Branch, International Agency for Research on Cancer, Lyon, France.

Anshul Kundaje (A)

Department of Genetics, Stanford University, Stanford, CA, USA.
Department of Computer Science, Stanford University, Stanford, CA, USA.

Juan Pablo Lewinger (JP)

Division of Biostatistics, Department of Population and Public Health Sciences, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA.

Victor Moreno (V)

Colorectal Cancer Group, ONCOBELL Program, Bellvitge Biomedical Research Institute (IDIBELL), L'Hospitalet de Llobregat, Barcelona, Spain.
Oncology Data Analytics Program, Catalan Institute of Oncology, L'Hospitalet de Llobregat, Barcelona, Spain.
Consortium for Biomedical Research in Epidemiology and Public Health (CIBERESP), Madrid, Spain.
Department of Clinical Sciences, Faculty of Medicine, University of Barcelona, Barcelona, Spain.

Polly A Newcomb (PA)

Public Health Sciences Division, Fred Hutchinson Cancer Research Center, Seattle, WA, USA.
Department of Epidemiology, University of Washington School of Public Health, Seattle, WA, USA.

Bens Pardamean (B)

Bioinformatics and Data Science Research Center, Bina Nusantara University, Jakarta, Indonesia.

Duncan C Thomas (DC)

Division of Biostatistics, Department of Population and Public Health Sciences & USC Norris Comprehensive Cancer Center, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA.

Konstantinos K Tsilidis (KK)

Department of Epidemiology and Biostatistics, Imperial College London, School of Public Health, London, UK.
Department of Hygiene and Epidemiology, University of Ioannina School of Medicine, Ioannina, Greece.

Ulrike Peters (U)

Public Health Sciences Division, Fred Hutchinson Cancer Research Center, Seattle, WA, USA.
Department of Epidemiology, University of Washington School of Public Health, Seattle, WA, USA.

W James Gauderman (WJ)

Division of Biostatistics, Department of Population and Public Health Sciences & USC Norris Comprehensive Cancer Center, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA.

Li Hsu (L)

Public Health Sciences Division, Fred Hutchinson Cancer Research Center, Seattle, WA, USA.
Department of Biostatistics, University of Washington, Seattle, WA, USA.

Jenny Chang-Claude (J)

Division of Cancer Epidemiology, German Cancer Research Center (DKFZ), Heidelberg, Germany.
University Cancer Centre Hamburg (UCCH), University Medical Centre Hamburg-Eppendorf, Hamburg, Germany.

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