About

Copy number variants (CNVs) in the human genome contribute to both phenotypic variation and disease susceptibility. The role of CNVs in neurodevelopmental disorders is highlighted by the association of recurrent CNVs, such as 1q21.1, 22q11 and 15q11.2, with e.g. autism, ADHD and schizophrenia. The frequency of most CNVs is low; thus valid studies require sample sizes achievable only through large-scale collaborations.

The goal of the ENIGMA-CNV working group is to identify brain structural differences in copy number variant (CNV) carriers through mega-analysis or meta-analysis on existing structural MRI and DTI data coupled with CNVs.

The 1st ENIGMA-CNV wave (2015-2020) identified effects of the 16p11.2 distal, 15q11.2 BP1-BP2 and 1q21.1 distal CNVs on brain structure based on data from ~17,000 individuals from 37 ENIGMA research samples as well as from the UK biobank.

The 2nd wave of ENIGMA-CNV (2022-) aims to
i) target a wider range of CNVs,
ii) analyse a broader range of brain imaging measures, and
iii) use these to identify novel effects of CNVs on brain structure and function.

Interested in joining?

-either in the planning and/or by providing data?

Please contact the chairs:
Ole A. Andreassen (o.a.andreassen@medisin.uio.no)
Ida Sønderby (i.e.sonderby@medisin.uio.no) or
The helpdesk (enigmacnvhelpdesk@gmail.com).

The requirements for newly joining cohorts are to share item-level CNVs (genetic data) and FreeSurfer-derived imaging data after running standardized protocols (see below).

We welcome new cohorts at any time!

Protocols

Protocols for ENIGMA-CNV can be found on github.

The ENIGMA-CNV WG is happy to guide the analysts or run the analyses (if provided with the raw data).

Anyone is welcome to use the ENIGMA-CNV CNV calling and sMRI protocols for their projects! If you use the protocols outside of ENIGMA, please include a reference to the ENIGMA-CNV github-page (https://github.com/ENIGMA-git/ENIGMA-CNV) so that your readers and reviewers know about it as well.

Current members

See list of current ENIGMA-CNV members here.

See list of data-contributing ENIGMA-CNV members here.

Publications

Effects of copy number variations on brain structure and risk for psychiatric illness: Large-scale studies from the ENIGMA Working Groups on CNVs. (Sønderby et al, 2022, Human Brain Mapping, link). Collaborative review with the ENIGMA-22q working group.

1q21.1 distal copy number variants are associated with cerebral and cognitive alterations in humans. (Sønderby et al 2021, Translational Psychiatry, link)

Copy number variation of the 15q11.2 region is associated with cortical and subcortical morphology. (van der Meer et al 2019, JAMA Psychiatry, link)

The 16p11.2 distal copy number variant conveys dose-response effects on intracranial volume and basal ganglia structures (Sønderby et al 2018, Molecular Psychiatry, link)