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Effects of pathogenic CNVs on physical traits in participants of the UK Biobank

By David Owen, Mathew Bracher-Smith, Kimberley Kendall, Elliott Rees, Mark Einon, Valentina Escott-Price, Michael J Owen, Michael C O'Donovan, Kirov George

Posted 25 Jun 2018
bioRxiv DOI: 10.1101/355297 (published DOI: 10.1186/s12864-018-5292-7)

Background: Copy number variants (CNVs) have been shown to increase risk for physical anomalies, developmental, psychiatric and medical disorders. Some of them have been associated with changes in weight, height, and other physical traits. As most studies have been performed on children and young people, these effects of CNVs in adulthood are not well established. Methods: The UK Biobank recruited half a million adults who provided a variety of physical measurements. We called all CNVs from the Affymetrix microarrays and selected a set of 54 CNVs implicated as pathogenic (including their reciprocal deletions/duplications) and present in five or more persons. Linear regression analysis was used to establish their association with 16 physical traits. Results: 396,725 participants of white British or Irish descent (excluding first-degree relatives) passed our quality control filters. There were 214 CNV/trait associations significant at a false discovery rate of 0.1, most of them novel. These traits are associated with adverse health outcomes: e.g. increased weight, waist-to-hip ratio, pulse rate or body fat composition. Five CNVs had 10 or more significant associations with physical measures: deletions at 16p11.2, 16p12.1, NRXN1 and duplications at 16p13.11 and 22q11.2. Seven CNVs demonstrated one or more mirror image effects of deletions versus duplications: 1q21.1, 2q13, 16p11.2, 16p11.2 distal, 16p12.1, 17p12 and 17q12. Conclusions. Carriers of many CNVs should be carefully monitored for physical traits that can increase morbidity and mortality. Genes within these CNVs can give insights into biological processes and therapeutic interventions.

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