Dataset Information

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

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.

SUBMITTER: Adjei AA

PROVIDER: S-EPMC7916362 | biostudies-literature | 2021 Feb

REPOSITORIES: biostudies-literature

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Publications

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

Adjei Araba A AA Lopez Camden L CL Schaid Daniel J DJ Sloan Jeff A JA Le-Rademacher Jennifer G JG Loprinzi Charles L CL Norman Aaron D AD Olson Janet E JE Couch Fergus J FJ Beutler Andreas S AS Vachon Celine M CM Ruddy Kathryn J KJ

Cancers 20210210 4

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 mult ...[more]

PMID: 33578652

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Project description:OBJECTIVES:To develop separate item banks for three health domains of health-related quality of life (HRQOL) ranked as important by Singaporeans - physical functioning, social relationships, and positive mindset. METHODS:We adapted the Patient Reported Outcomes Measurement Information System Qualitative Item Review protocol, with input and endorsement from laymen and experts from various relevant fields. Items were generated from 3 sources: 1) thematic analysis of focus groups and in-depth interviews for framework (n = 134 participants) and item(n = 52 participants) development, 2) instruments identified from a literature search (PubMed) of studies that developed or validated a HRQOL instrument among adults in Singapore, 3) a priori identified instruments of particular relevance. Items from these three sources were "binned" and "winnowed" by two independent reviewers, blinded to the source of the items, who harmonized their selections to generate a list of candidate items (each item representing a subdomain). Panels with lay and expert representation, convened separately for each domain, reviewed the face and content validity of these candidate items and provided inputs for item revision. The revised items were further refined in cognitive interviews. RESULTS:Items from our qualitative studies (51 physical functioning, 44 social relationships, and 38 positive mindset), the literature review (36 instruments from 161 citations), and three a priori identified instruments, underwent binning, winnowing, expert panel review, and cognitive interview. This resulted in 160 candidate items (61 physical functioning, 51 social relationships, and 48 positive mindset). CONCLUSIONS:We developed item banks for three important health domains in Singapore using inputs from potential end-users and the published literature. The next steps are to calibrate the item banks, develop computerized adaptive tests (CATs) using the calibrated items, and evaluate the validity of test scores when these item banks are administered adaptively.

Dataset Information

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

Publications

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

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