Barr Peter B, Neale Zoe E, Bigdeli Tim B, Chatzinakos Chris, Harvey Philip D, Peterson Roseann E, Meyers Jacquelyn L
SUNY Downstate Health Sciences University, Department of Psychiatry and Behavioral Sciences.
SUNY Downstate Health Sciences University, Institute for Genomics in Health.
medRxiv. 2024 Dec 14:2024.12.13.24319000. doi: 10.1101/2024.12.13.24319000.
Persons with substance use disorders (SUD) often suffer from additional comorbidities, including psychiatric conditions and physical health problems. Researchers have explored this overlap in electronic health records (EHR) using phenome wide association studies (PheWAS) to characterize how different indicators are related to all conditions in an individual's EHR. However, analyses have been largely cross-sectional in nature.
To characterize whether various social and genetic risk factors are associated with time to comorbid diagnoses in electronic health records (EHR) after the first diagnosis of SUD.
Leveraging those with EHR and whole-genome sequencing data in All of Us (N = 287,012), we explored whether social determinants of health are associated with lifetime risk of SUD. Next, within those with a diagnosed SUD (N = 17,460), we examined whether polygenic scores (PGS) were associated with time to comorbid diagnoses performing a phenome-wide survival analysis.
Participating health care organizations across the United States.
Participants in the All of Us Research Program with available EHR and genomic data.
Social determinants of health and polygenic scores (PGS) for psychiatric and substance use disorders.
Phecodes for diagnoses derived from International Statistical Classification of Diseases, Ninth and Tenth Revisions, Clinical Modification, codes from EHR.
Multiple social and demographic risk factors were associated with lifetime SUD diagnosis. Most strikingly, those reporting an annual income <$10K had 4.5 times the odds of having an SUD diagnosis compared to those reporting $100-$150K annually (OR = 4.48, 95% CI = 4.01, 5.01). PGSs for alcohol use disorders, schizophrenia, and post-traumatic stress disorder were associated with time to their respective diagnoses (HR = 1.10, 95% CI = 1.06, 1.14; HR = 1.13, 95% CI = 1.06, 1.20; HR = 1.15, 95% CI = 1.08, 1.22). A PGS for ever-smoking was associated with time to subsequent smoking related comorbidities and additional SUD diagnoses HR = 1.6 to 1.16).
Social determinants, especially those related to income have profound associations with lifetime SUD risk. Additionally, PGS may include information related to outcomes above and beyond lifetime risk, including timing and severity.
患有物质使用障碍（SUD）的人通常还患有其他合并症，包括精神疾病和身体健康问题。研究人员利用全表型关联研究（PheWAS）在电子健康记录（EHR）中探索了这种重叠情况，以描述不同指标与个体EHR中的所有病症之间的关系。然而，分析在很大程度上本质上是横断面研究。
描述在首次诊断SUD后，各种社会和遗传风险因素是否与电子健康记录（EHR）中共病诊断的时间相关。
利用“我们所有人”项目中拥有EHR和全基因组测序数据的人群（N = 287,012），我们探讨了健康的社会决定因素是否与SUD的终生风险相关。接下来，在已诊断患有SUD的人群（N = 17,460）中，我们通过进行全表型生存分析，研究多基因评分（PGS）是否与共病诊断时间相关。
美国各地参与的医疗保健机构。
“我们所有人”研究项目中拥有可用EHR和基因组数据的参与者。
健康的社会决定因素以及精神疾病和物质使用障碍的多基因评分（PGS）。
源自《国际疾病分类》第九版和第十版临床修订本的诊断phecode，以及EHR中的代码。
多种社会和人口风险因素与终生SUD诊断相关。最引人注目的是，报告年收入低于1万美元的人患SUD诊断的几率是报告年收入10万至15万美元者的4.5倍（OR = 4.48，95% CI = 4.01，5.01）。酒精使用障碍、精神分裂症和创伤后应激障碍的PGS与各自诊断的时间相关（HR = 1.10，95% CI = 1.06，1.14；HR = 1.13，95% CI = 1.06，1.20；HR = 1.15，95% CI = 1.08，1.22）。曾经吸烟的PGS与随后吸烟相关合并症和额外SUD诊断的时间相关（HR = 1.6至1.16）。
社会决定因素，尤其是与收入相关的因素，与终生SUD风险有密切关联。此外，PGS可能包含与终生风险之外的结局相关的信息，包括发病时间和严重程度。
