Adjei Araba A, Lopez Camden L, Schaid Daniel J, Sloan Jeff A, Le-Rademacher Jennifer G, Loprinzi Charles L, Norman Aaron D, Olson Janet E, Couch Fergus J, Beutler Andreas S, Vachon Celine M, Ruddy Kathryn J
Department of Oncology, Mayo Clinic, Rochester, MN 55905, USA.
Department of Health Sciences Research, Mayo Clinic, Rochester, MN 55905, USA.
Cancers (Basel). 2021 Feb 10;13(4):716. doi: 10.3390/cancers13040716.
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: = 1.6 × 10; financial concerns: = 4.8 × 10) and mental health (age: = 3.5 × 10; financial concerns: = 2.0 × 10. Chemotherapy was associated with worse global mental health ( = 0.01). In the GWAS, none of the SNPs reached the genome-wide association significance threshold of 5 × 10 for associations with either global physical or global mental health, however, a cluster of SNPs in , particularly rs112718371, appeared to be linked to worse global physical health ( = 5.21 × 10). Additionally, SNPs in and were also moderately associated with worse physical and mental health ( < 10). These biologically plausible candidate SNPs warrant further study as possible predictors of HRQOL.
健康相关生活质量（HRQOL）是肿瘤学中一项重要的、由患者报告的预后指标。由于先前的研究表明HRQOL在一定程度上具有遗传性，我们进行了一项全基因组关联研究（GWAS），以阐明与乳腺癌幸存者HRQOL相关的遗传因素。通过纸质调查问卷对1442名参与梅奥诊所乳腺疾病登记处（MCBDR）的乳腺癌幸存者的生理和心理健康相关生活质量进行了测量，该问卷包括PROMIS-10生理和心理健康领域量表。在多变量回归分析中，年龄和经济担忧与总体身体健康（年龄： = 1.6 × 10；经济担忧： = 4.8 × 10）和心理健康（年龄： = 3.5 × 10；经济担忧： = 2.0 × 10）显著相关。化疗与较差的总体心理健康相关（ = 0.01）。在GWAS中，没有一个单核苷酸多态性（SNP）与总体身体或总体心理健康的关联达到全基因组关联显著性阈值5 × 10，然而，位于 区域的一组SNP，特别是rs112718371，似乎与较差的总体身体健康有关（ = 5.21 × 10）。此外，位于 和 区域的SNP也与较差的生理和心理健康中度相关（ < 10）。这些具有生物学合理性的候选SNP作为HRQOL的可能预测指标值得进一步研究。
