Sex chromosome trisomies SCT are the most common whole chromosome aneuploidy in humans. Yet, our understanding of the prevalence and associated health outcomes is largely driven by observational studies of clinically diagnosed cases, resulting in a disproportionate focus on 47,XXY and associated hypogonadism.
We analyzed microarray intensity data of sex chromosomes for 1. We examined disease conditions associated with SCTs by performing phenome-wide association studies PheWAS using electronic health records EHR data for each cohort, followed by meta-analysis across cohorts. Association results are presented for each SCT and also stratified by presence or absence of a documented clinical diagnosis for 47,XXY.
Many associations are shared among three SCT subtypes, particularly for vascular diseases e. A third sex chromosome confers an increased risk for systemic comorbidities, even if the SCT is not documented.
Ganna reports role as a foundr of Real World Genetics Oy. Lynch, Dr. Teerlink, Dr. Lee, Dr. Chang, and Ms. Pridgen, report grants from Alnylam Pharmaceuticals, Inc. I understand that all clinical trials and any other prospective interventional studies must be registered with an ICMJE-approved registry, such as ClinicalTrials. I confirm that any such study reported in the manuscript has been registered and the trial registration ID is provided note: if posting a prospective study registered retrospectively, please provide a statement in the trial ID field explaining why the study was not registered in advance.
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