Prevalence, Morbidity, and Mortality of 1,609 Men with Sex Chromosome Aneuploidy: Results from the Diverse Million Veteran Program Cohort.
Prevalence, Morbidity, and Mortality of 1,609 Men with Sex Chromosome Aneuploidy: Results from the Diverse Million Veteran Program Cohort.
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1,609 名性染色体非整倍体男性的患病率、发病率和死亡率：来自多元化百万退伍军人计划队列的结果。
DOI：
10.1101/2023.07.15.23292710
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发表时间：
2023
期刊：
影响因子：
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通讯作者：
Hauger,RichardL
中科院分区：
文献类型：
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作者：
Davis,ShanleeM;Teerlink,Craig;Lynch,JulieA;Gorman,BryanR;Pagadala,Meghana;Liu,Aoxing;Panizzon,MatthewS;Merritt,VictoriaC;Genovese,Giulio;Pyarajan,Saiju;Ross,JudithL;Hauger,RichardL
目的：确定百万退伍军人计划(MVP)登记的男性中临床诊断和未诊断的X或Y染色体非整倍体的患病率；描述男性SCA的兵役指标；比较有临床诊断和无临床诊断的SCA男性与匹配对照的发病率和死亡率结果。设计：横断面病例对照环境：美国退伍军人管理局医疗系统参与者：登记在MVP生物库中的生物男性，额外的X或Y染色体(病例)；性别、年龄和遗传血统1：5匹配的对照主要结果(S)和测量(S)：来自基因组分析的男性SCA的患病率；临床SCA诊断；查尔森共病指数(CCI)；每年的门诊率、住院率和急诊率；自我报告的健康结果；标准化死亡率(SMR)结果：在MVP中，每10万名男性中分别有145人和125人存在额外的X或Y染色体，其中具有欧洲和东亚血统的男性的患病率最高。平均年龄61岁时，74%患有47，XXY的男性退伍军人和99%患有47，XYY的男性退伍军人仍未确诊。与匹配的对照组相比，携带47，XXY(n=862)和47，XYY(n=747)的个体具有相似的兵役史、全原因SMR和死亡年龄。在患有SCA的个体中，CCI和医疗利用较高，而HRQL的几个指标较低。与未确诊的男性相比，临床诊断为47，XXY的男性有更高的医疗利用率，但共病得分更低。结论和相关性：在MVP队列中，每370名男性中就有一人患有SCA，这一患病率与普通人群中的估计值相当。虽然这些男性已经成功地在军队服役，但他们的发病率更高，随着年龄的增长，他们的HRQOL更差。对该样本进行更长时间的纵向跟踪将有助于了解临床和患者报告的结果、祖先的作用和死亡率统计数据。
Objectives:Determine the prevalence of clinically diagnosed and undiagnosed X or Y chromosome aneuploidy among men enrolled in the Million Veteran Program (MVP); describe military service metrics of men with SCAs; compare morbidity and mortality outcomes between men with SCA with and without a clinical diagnosis to matched controls.Design:Cross-sectional, case-control Setting: United States Veterans Administration Healthcare System Participants: Biologic males enrolled in the MVP biobank with genomic identification of an additional X or Y chromosome (cases); controls matched 1: 5 on sex, age, and genetic ancestry Main Outcome (s) and Measure (s): Prevalence of men with SCAs from genomic analysis; clinical SCA diagnosis; Charlson Comorbidity Index (CCI); rates of outpatient, inpatient, and emergency encounters per year; self-reported health outcomes; standardized mortality ratio (SMR) Results: An additional X or Y chromosome was present in 145 and 125 per 100,000 males in the MVP, respectively, with the highest prevalence among men with European and East Asian ancestry. At a mean age of 61 years, 74% of male veterans with 47, XXY and> 99% with 47, XYY remained undiagnosed. Individuals with 47, XXY (n= 862) and 47, XYY (n= 747) had similar military service history, all-cause SMR, and age of death compared to matched controls. CCI and healthcare utilization were higher among individuals with SCA, while several measures of HRQoL were lower. Men with a clinical diagnosis of 47, XXY had higher healthcare utilization but lower comorbidity score compared to those undiagnosed. Conclusion and Relevance: One in 370 males in the MVP cohort have SCA, a prevalence comparable to estimates in the general population. While these men have successfully served in the military, they have higher morbidity and report poorer HRQoL with aging. Longer longitudinal follow-up of this sample will be informative for clinical and patient-reported outcomes, the role of ancestry, and mortality statistics.