Genetic Variations and Health-Related Quality of Life (HRQOL): A Genome-Wide Study Approach

Health-related quality of life (HRQOL) is an important prognostic patient-reported outcome in oncology. Because prior studies suggest that HRQOL is, in part, heritable, we performed a GWAS to elucidate genetic factors associated with HRQOL in breast cancer survivors. Physical and mental HRQOL were m...

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Main Authors: Araba A. Adjei, Camden L. Lopez, Daniel J. Schaid, Jeff A. Sloan, Jennifer G. Le-Rademacher, Charles L. Loprinzi, Aaron D. Norman, Janet E. Olson, Fergus J. Couch, Andreas S. Beutler, Celine M. Vachon, Kathryn J. Ruddy
Format: Article
Language:English
Published: MDPI AG 2021-02-01
Series:Cancers
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Online Access:https://www.mdpi.com/2072-6694/13/4/716
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author Araba A. Adjei
Camden L. Lopez
Daniel J. Schaid
Jeff A. Sloan
Jennifer G. Le-Rademacher
Charles L. Loprinzi
Aaron D. Norman
Janet E. Olson
Fergus J. Couch
Andreas S. Beutler
Celine M. Vachon
Kathryn J. Ruddy
author_facet Araba A. Adjei
Camden L. Lopez
Daniel J. Schaid
Jeff A. Sloan
Jennifer G. Le-Rademacher
Charles L. Loprinzi
Aaron D. Norman
Janet E. Olson
Fergus J. Couch
Andreas S. Beutler
Celine M. Vachon
Kathryn J. Ruddy
author_sort Araba A. Adjei
collection DOAJ
description Health-related quality of life (HRQOL) is an important prognostic patient-reported outcome in oncology. Because prior studies suggest that HRQOL is, in part, heritable, we performed a GWAS to elucidate genetic factors associated with HRQOL in breast cancer survivors. Physical and mental HRQOL were measured via paper surveys that included the PROMIS-10 physical and mental health domain scales in 1442 breast cancer survivors participating in the Mayo Clinic Breast Disease Registry (MCBDR). In multivariable regression analyses, age and financial concerns were significantly associated with global physical health (age: <i>p</i> = 1.6 × 10<sup>−23</sup>; financial concerns: <i>p</i> = 4.8 × 10<sup>−40</sup>) and mental health (age: <i>p</i> = 3.5 × 10<sup>−7</sup>; financial concerns: <i>p</i> = 2.0 × 10<sup>−69)</sup>. Chemotherapy was associated with worse global mental health (<i>p</i> = 0.01). In the GWAS, none of the SNPs reached the genome-wide association significance threshold of 5 × 10<sup>−8</sup> for associations with either global physical or global mental health, however, a cluster of SNPs in <i>SCN10A</i>, particularly rs112718371, appeared to be linked to worse global physical health (<i>p</i> = 5.21 × 10<sup>−8</sup>). Additionally, SNPs in <i>LMX1B, SGCD, PARP12</i> and <i>SEMA5A</i> were also moderately associated with worse physical and mental health (<i>p</i> < 10<sup>−6</sup>). These biologically plausible candidate SNPs warrant further study as possible predictors of HRQOL.
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spelling doaj.art-d0526b12e53040ed999a21fc9fcf301b2023-12-03T13:07:08ZengMDPI AGCancers2072-66942021-02-0113471610.3390/cancers13040716Genetic Variations and Health-Related Quality of Life (HRQOL): A Genome-Wide Study ApproachAraba A. Adjei0Camden L. Lopez1Daniel J. Schaid2Jeff A. Sloan3Jennifer G. Le-Rademacher4Charles L. Loprinzi5Aaron D. Norman6Janet E. Olson7Fergus J. Couch8Andreas S. Beutler9Celine M. Vachon10Kathryn J. Ruddy11Department of Oncology, Mayo Clinic, Rochester, MN 55905, USADepartment of Health Sciences Research, Mayo Clinic, Rochester, MN 55905, USADepartment of Health Sciences Research, Mayo Clinic, Rochester, MN 55905, USADepartment of Health Sciences Research, Mayo Clinic, Rochester, MN 55905, USADepartment of Health Sciences Research, Mayo Clinic, Rochester, MN 55905, USADepartment of Oncology, Mayo Clinic, Rochester, MN 55905, USADepartment of Health Sciences Research, Mayo Clinic, Rochester, MN 55905, USADepartment of Health Sciences Research, Mayo Clinic, Rochester, MN 55905, USADepartment of Laboratory Medicine and Pathology, Rochester, MN 55905, USADepartment of Oncology, Mayo Clinic, Rochester, MN 55905, USADepartment of Health Sciences Research, Mayo Clinic, Rochester, MN 55905, USADepartment of Oncology, Mayo Clinic, Rochester, MN 55905, USAHealth-related quality of life (HRQOL) is an important prognostic patient-reported outcome in oncology. Because prior studies suggest that HRQOL is, in part, heritable, we performed a GWAS to elucidate genetic factors associated with HRQOL in breast cancer survivors. Physical and mental HRQOL were measured via paper surveys that included the PROMIS-10 physical and mental health domain scales in 1442 breast cancer survivors participating in the Mayo Clinic Breast Disease Registry (MCBDR). In multivariable regression analyses, age and financial concerns were significantly associated with global physical health (age: <i>p</i> = 1.6 × 10<sup>−23</sup>; financial concerns: <i>p</i> = 4.8 × 10<sup>−40</sup>) and mental health (age: <i>p</i> = 3.5 × 10<sup>−7</sup>; financial concerns: <i>p</i> = 2.0 × 10<sup>−69)</sup>. Chemotherapy was associated with worse global mental health (<i>p</i> = 0.01). In the GWAS, none of the SNPs reached the genome-wide association significance threshold of 5 × 10<sup>−8</sup> for associations with either global physical or global mental health, however, a cluster of SNPs in <i>SCN10A</i>, particularly rs112718371, appeared to be linked to worse global physical health (<i>p</i> = 5.21 × 10<sup>−8</sup>). Additionally, SNPs in <i>LMX1B, SGCD, PARP12</i> and <i>SEMA5A</i> were also moderately associated with worse physical and mental health (<i>p</i> < 10<sup>−6</sup>). These biologically plausible candidate SNPs warrant further study as possible predictors of HRQOL.https://www.mdpi.com/2072-6694/13/4/716health-related quality of lifegenome-wide association studyglobal physical and mental health
spellingShingle Araba A. Adjei
Camden L. Lopez
Daniel J. Schaid
Jeff A. Sloan
Jennifer G. Le-Rademacher
Charles L. Loprinzi
Aaron D. Norman
Janet E. Olson
Fergus J. Couch
Andreas S. Beutler
Celine M. Vachon
Kathryn J. Ruddy
Genetic Variations and Health-Related Quality of Life (HRQOL): A Genome-Wide Study Approach
Cancers
health-related quality of life
genome-wide association study
global physical and mental health
title Genetic Variations and Health-Related Quality of Life (HRQOL): A Genome-Wide Study Approach
title_full Genetic Variations and Health-Related Quality of Life (HRQOL): A Genome-Wide Study Approach
title_fullStr Genetic Variations and Health-Related Quality of Life (HRQOL): A Genome-Wide Study Approach
title_full_unstemmed Genetic Variations and Health-Related Quality of Life (HRQOL): A Genome-Wide Study Approach
title_short Genetic Variations and Health-Related Quality of Life (HRQOL): A Genome-Wide Study Approach
title_sort genetic variations and health related quality of life hrqol a genome wide study approach
topic health-related quality of life
genome-wide association study
global physical and mental health
url https://www.mdpi.com/2072-6694/13/4/716
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