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• W4387496795 abstract "Sex chromosome trisomies (SCT) involve the gain of chromosome X or Y, resulting in Klinefelter syndrome (KS; 47, XXY), Jacob syndrome (JS; 47, XYY), or Triple X syndrome (TX; 47, XXX). SCT are among the most prevalent chromosomal abnormalities observed in liveborn humans affecting estimated ∼1 in every 500-1000 males and ∼1 in 1000 females born each year. SCTs have been associated with a broad range of medical and neuropsychiatric comorbidities, including learning and conduct disorders and atypical sexual development, fertility, and anthropometric features (e.g., height, hypertelorism). However, because the majority of SCT research has focused on clinically ascertained cases, the full spectrum of health risks and comorbidities for individuals with a SCT is unknown due to biased sampling. This study sought to identify health outcomes associated with SCT using health records from three international cohorts. A phenome-wide association study (PheWAS) meta-analysis was conducted using data from the Million Veteran Program (MVP), FinnGen Research Project, and UK Biobank (UKB). Individuals with SCTs were identified using standard genotype microarray quality control assessments that compare the relative dose of chromosomes X and Y. ICD9/10 codes were mapped to phecodes, and the relative prevalence of phecodes was compared between SCT cases and controls matched 1:5 (cases:controls) for age, sex, and race within each dataset. Logistic regression was run with SCT as the predictor, age at enrollment, race, and ten principal components as covariates, and phecodes as the binary outcome. P-values were corrected using FDR Benjamini Hochberg procedures. Random effects meta-analysis was applied given the expected heterogeneity across biobanks. A total of n=2758 individuals with SCT were identified using genotypic data. Approximately half of those individuals were predicted to have KS (n=1320), n=1096 to have JS, and n=342 to have TX. In total, n=98549 ICD9/ICD10 codes were mapped onto 1875 unique phecodes. Significant phecodes were observed for multiple body systems, with the most significantly differentially reported codes relating to chronic ulcer of skin (OR: 1.13, q = 8.85 × 10-15), Type 2 diabetes mellitus (OR: 1.18, q = 1.46 × 10-9), and unspecified mood [affective] disorder (OR: 1.12, q = 8.12 × 10-9). Overall, these results suggest that individuals with SCA may have increased risks for infections, dermatological conditions, arthritis, and substance use and mood disorders. Additional work will be needed to determine the pathoetiology of those conditions, including potential social and environmental determinants of health that may disproportionately increase allostatic stress on people with SCTs. Robust, generalizable knowledge about the comorbidities associated with SCT will be invaluable in equipping clinicians, families, and individuals to provide adequate health monitoring." @default.
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• W4387496795 date "2023-10-01" @default.
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• W4387496795 title "47. UNVEILING THE HIDDEN HEALTH RISKS: PHENOME-WIDE ASSOCIATIONS IN SEX CHROMOSOME TRISOMIES FROM THREE INTERNATIONAL COHORTS" @default.
• W4387496795 doi "https://doi.org/10.1016/j.euroneuro.2023.08.153" @default.
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