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Principal Investigator: George Kirov

Kimberley Kendall

Elliott Rees

Karen Crawford

Matthew Bracher-Smith

These data are provided "as is", and without warranty, for scientific and educational use only.

Medical consequences of pathogenic CNVs in adults in the UK Biobank (2018)

The data presented here is from an analysis of CNVs in the UK Biobank. The methods for CNV calling are available in: Kendall K, Rees E, Escott-Price V, Einon M, Thomas R, Hewitt J, C O’Donovan MC, Owen MJ, Walters J, Kirov G. Cognitive performance among carriers of pathogenic copy number variants: Analysis of 152,000 UK Biobank subjects. Biol Psychiatry 2017; 82: 103–10, PMID: 27773354

We have analysed the associations of 58 broad and common medical phenotypes from the UK Biobank and a set of 54 CNVs regarded as pathogenic for clinical disorders. We used Firth's logistic regression analysis, with age and sex as co-variates. We provide the results of all associations.  The pdf graphs show the RR for each association, sorted by the strength of the p-value (most significant on the left, with a red vertical line demarcating the nominally significant results). The work is now published: Crawford K, Bracher-Smith M, Owen D, Kendall KM, Rees E, Pardiñas AF, Einon M, Escott-Price V, Walters JTR, O’Donovan MC, Owen MJ, Kirov G. Medical consequences of pathogenic CNVs in adults: Analysis of the UK Biobank. J Med Genet. 2018 Oct 20. pii: jmedgenet-2018-105477. doi: 10.1136/jmedgenet-2018-105477. [Epub ahead of print]. PMID: 30343275

Effects of pathogenic CNVs on physical traits in participants of the UK Biobank (2018)

We tested the same 54 CNVs for association with 16 physical traits: weight, height, BMI, waist, hip, waist/hip ratio, pulse rate, blood pressure (systolic and diastolic), arm strength, peak expiratory volume, heel bone mineral density, birthweight, and the fat percentage of legs, arms and trunk. All results and the corresponding figures are presente din "Physical measurements: search by CNV". The images show the change in SD from controls and the 95% CI of the changes. CNVs with mirror image phenotypes are also presented.This work is published: Owen D, Bracher-Smith M, Kendall KM, Rees E, Einon M, Escott-Price V, Owen MJ, O'Donovan MC, Kirov G. Effects of pathogenic CNVs on physical traits in participants of the UK Biobank. BMC Genomics. 2018 Dec 4;19(1):867. doi: 10.1186/s12864-018-5292-7. PMID: 30509170. This paper was chosen as the Editor's choice for March 2019!.

Cognitive performance and functional outcomes of carriers of pathogenic CNVs: Analysis of the UK Biobank (2019)

We analysed 33 pathogenic CNVs, including their reciprocal deletions/duplications, for association with seven cognitive tests and four general measures of functioning: academic qualifications, occupation, household income and Townsend Deprivation Index. Most CNVs (24 out of 33) were associated with reduced performance on at least one cognitive test or measure of functioning.  All 12 schizophrenia-associated CNVs were associated with significant impairments on measures of functioning. The paper is in press: Kendall K, Bracher-Smith M, Fitzpatrick H, Lynham A, Rees E, Escott-Price V, Owen MJ, O’Donovan M, Walters JTR, Kirov G.  Cognitive performance and functional outcomes of carriers of pathogenic CNVs: Analysis of the UK Biobank. Brit J Psychiatry (in press)

Medical phenotypes: search by CNV

Physical measurements: search by CNV

Cognitive results and functional outcomes