Medical consequences of pathogenic CNVs in adults: Analysis of the UK Biobank

Pathogenic copy number variants (CNVs) are deletions or duplications of large stretches of chromosomes, that have been shown to cause developmental delay, autism spectrum disorders and schizophrenia. The UK Biobank, with half a million well-phenotyped participants, provides an unprecedented opportunity to examine whether these CNVs increase risk to develop other medical disorders. We analysed the whole Biobank for 54 pathogenic CNVs and report their associations with 58 common medical disorders. We show that middle-aged and old people who carry such CNVs suffer with increased rates of common conditions, such as hypertension, diabetes, cataracts, stroke, and have increased mortality. (By Crawford et al. https://jmg.bmj.com/content/early/2018/10/20/jmedgenet-2018-105477 )

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