| Title: | Thirty novel sequence variants impacting human intracranial volume |
| Journal: | Brain Communications |
| Published: | 25 Oct 2022 |
| Pubmed: | https://pubmed.ncbi.nlm.nih.gov/36415660/ |
| DOI: | https://doi.org/10.1093/braincomms/fcac271 |
| URL: | https://academic.oup.com/braincomms/article-pdf/4/6/fcac271/47161005/fcac271.pdf |
| Citations: | 2 (1 in last 2 years) as of 8 Aug 2024 |
Publication 10620
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Abstract
Intracranial volume, measured through magnetic resonance imaging and/or estimated from head circumference, is heritable and correlates with cognitive traits and several neurological disorders. We performed a genome-wide association study meta-analysis of intracranial volume (n = 79 174) and found 64 associating sequence variants explaining 5.0% of its variance. We used coding variation, transcript and protein levels, to uncover 12 genes likely mediating the effect of these variants, including GLI3 and CDK6 that affect cranial synostosis and microcephaly, respectively. Intracranial volume correlates genetically with volumes of cortical and sub-cortical regions, cognition, learning, neonatal and neurological traits. Parkinson's disease cases have greater and attention deficit hyperactivity disorder cases smaller intracranial volume than controls. Our Mendelian randomization studies indicate that intracranial volume associated variants either increase the risk of Parkinson's disease and decrease the risk of attention deficit hyperactivity disorder and neuroticism or correlate closely with a confounder.</p>
27 Authors
- Muhammad Sulaman Nawaz
- Gudmundur Einarsson
- Mariana Bustamante
- Rosa S Gisladottir
- G Bragi Walters
- Gudrun A Jonsdottir
- Astros Th Skuladottir
- Gyda Bjornsdottir
- Sigurdur H Magnusson
- Bergrun Asbjornsdottir
- Unnur Unnsteinsdottir
- Engilbert Sigurdsson
- Palmi V Jonsson
- Vala Kolbrun Palmadottir
- Sigurjon A Gudjonsson
- Gisli H Halldorsson
- Egil Ferkingstad
- Ingileif Jonsdottir
- Gudmar Thorleifsson
- Hilma Holm
- Unnur Thorsteinsdottir
- Patrick Sulem
- Daniel F Gudbjartsson
- Hreinn Stefansson
- Thorgeir E Thorgeirsson
- Magnus O Ulfarsson
- Kari Stefansson
1 Application
| Application ID | Title |
|---|---|
| 24898 | Genetics of lumbar disc disease and associated sciatica |
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