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. 2021 Feb 10;13(4):716.
doi: 10.3390/cancers13040716.

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

Araba A Adjei  1 , Camden L Lopez  2 , Daniel J Schaid  2 , Jeff A Sloan  2 , Jennifer G Le-Rademacher  2 , Charles L Loprinzi  1 , Aaron D Norman  2 , Janet E Olson  2 , Fergus J Couch  3 , Andreas S Beutler  1 , Celine M Vachon  2 , Kathryn J Ruddy  1
Affiliations

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

Araba A Adjei et al. Cancers (Basel). .

Abstract

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: p = 1.6 × 10-23; financial concerns: p = 4.8 × 10-40) and mental health (age: p = 3.5 × 10-7; financial concerns: p = 2.0 × 10-69). Chemotherapy was associated with worse global mental health (p = 0.01). In the GWAS, none of the SNPs reached the genome-wide association significance threshold of 5 × 10-8 for associations with either global physical or global mental health, however, a cluster of SNPs in SCN10A, particularly rs112718371, appeared to be linked to worse global physical health (p = 5.21 × 10-8). Additionally, SNPs in LMX1B, SGCD, PARP12 and SEMA5A were also moderately associated with worse physical and mental health (p < 10-6). These biologically plausible candidate SNPs warrant further study as possible predictors of HRQOL.

Keywords: genome-wide association study; global physical and mental health; health-related quality of life.

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Conflict of interest statement

Kathryn J. Ruddy receives royalties from UpToDate; KJR’s spouse is co-inventor of a technology licensed by Mayo Clinic to Alivecor. Charles L. Loprinzi reports personal fees from PledPharma, personal fees from Disarm Therapeutics, personal fees from Asahi Kasei, personal fees from Metys Pharmaceuticals, personal fees from OnQuality, personal fees from Mitsubishi Tanabe, personal fees from NKMax, personal fees from Novartis, personal fees from HengRui, personal fees from Nuro Bio, personal fees from Osmol Therapeutics, Inc., personal fees from Grunenthal, outside the submitted work. Araba A. Adjei, Camden L. Lopez, Daniel J. Schaid, Jeff A. Sloan, Jennifer G. Le-Rademacher, Aaron D. Norman, Janet E. Olson, Fergus J. Couch, Andreas S. Beutler and Celine M. Vachon declare no conflict of interest.

Figures

Figure 1
Figure 1
Breast Registry Flow Diagram.
Figure 2
Figure 2
(a) Manhattan plot for genome-wide associations with PROMIS-10 global physical health in MCBDR cohort. (b) Manhattan plot for genome-wide associations with PROMIS-10 global mental health in MCBDR cohort.
Figure 3
Figure 3
(A) Q-Q plot for genome-wide associations with PROMIS-10 global physical health in MCBDR cohort. (B) Q-Q plot for genome-wide associations with PROMIS-10 global physical health in MCBDR cohort.
See this image and copyright information in PMC

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