These data are provided
"as is", and without warranty, for scientific and educational use
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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: 27773354We
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. 2019;
56:131-138. doi: 10.1136/jmedgenet-2018-105477, 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 presented in "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; 19:867. doi: 10.1186/s12864-018-5292-7, PMID: 30509170. This paper was chosen as the Editor's choice for March 2019. The distributions can be visualised interactivelyCognitive performance and
functional outcomes of carriers of pathogenic CNVs: Analysis of
the UK Biobank (2019)
Effects of pathogenic CNVs on biochemical markers (2019)
Bracher-Smith
M, Kendall KM, Rees E, Einon M, O’Donovan MC, Owen MJ, Kirov G.
Effects of pathogenic CNVs on biochemical markers: a study on the UK
Biobank. BioRxiv 6 Aug
2019. We analysed
28
biochemical and 23 haematology tests for association with 54
pathogenic CNVs. There were 268 associations between CNVs and
biomarkers that were significant at a false discovery rate of 0.05.
Deletions at 16p11.2 (110 carriers) produced the largest number of
significant associations, followed by carriers of 15q11.2 deletions,
16p11.2 distal deletions, 15q13.3 deletions and duplications and 17q12
deletions, with 15 or 16 significant associations each. Levels of
cholesterol and other lipids were lower in carriers of CNVs
associated with weight gain, presumably due to increased use of
statins among such people. The distributions can be visualised interactively
