The genetic architecture of the human hypothalamus and its involvement in neuropsychiatric behaviours and disorders

Research output: Contribution to journal › Research article › Contributed › peer-review

Contributors

  • Shi Dong Chen - , Fudan University (Author)
  • Jia You - , Fudan University (Author)
  • Wei Zhang - , Fudan University (Author)
  • Bang Sheng Wu - , Fudan University (Author)
  • Yi Jun Ge - , Fudan University (Author)
  • Shi Tong Xiang - , Fudan University (Author)
  • Jing Du - , Fudan University (Author)
  • Kevin Kuo - , Fudan University (Author)
  • Tobias Banaschewski - , Heidelberg University  (Author)
  • Gareth J. Barker - , King's College London (KCL) (Author)
  • Arun L.W. Bokde - , Trinity College Dublin (Author)
  • Sylvane Desrivières - , King's College London (KCL) (Author)
  • Herta Flor - , Heidelberg University , University of Mannheim (Author)
  • Antoine Grigis - , Université Paris-Saclay (Author)
  • Hugh Garavan - , University of Vermont (Author)
  • Penny Gowland - , University of Nottingham (Author)
  • Andreas Heinz - , Berlin Institute of Health at Charité (Author)
  • Rüdiger Brühl - , National Metrology Institute of Germany (PTB) (Author)
  • Jean Luc Martinot - , École normale supérieure Paris-Saclay (Author)
  • Marie Laure Paillère Martinot - , École normale supérieure Paris-Saclay, Sorbonne Université (Author)
  • Eric Artiges - , École normale supérieure Paris-Saclay, EPS Barthélémy Durand (Author)
  • Frauke Nees - , Heidelberg University , University Hospital Schleswig-Holstein Campus Kiel (Author)
  • Dimitri Papadopoulos Orfanos - , Université Paris-Saclay (Author)
  • Herve Lemaitre - , Université Paris-Saclay, Université de Bordeaux (Author)
  • Tomáš Paus - , University of Montreal, University of Toronto (Author)
  • Luise Poustka - , University of Göttingen (Author)
  • Sarah Hohmann - , University of Hamburg (Author)
  • Sabina Millenet - , Heidelberg University  (Author)
  • Christian Baeuchl - , Department of Psychiatry and Psychotherapy (Author)
  • Michael N. Smolka - , Department of Psychiatry and Psychotherapy (Author)
  • Nilakshi Vaidya - , Charité – Universitätsmedizin Berlin (Author)
  • Henrik Walter - , Berlin Institute of Health at Charité (Author)
  • Robert Whelan - , Trinity College Dublin (Author)
  • Gunter Schumann - , Charité – Universitätsmedizin Berlin, Fudan University (Author)
  • Jian Feng Feng - , Fudan University, Zhejiang Normal University (Author)
  • Qiang Dong - , Fudan University (Author)
  • Wei Cheng - , Fudan University, Zhejiang Normal University, Zhongshan Hospital at Fudan University (Author)
  • Jin Tai Yu - , Fudan University (Author)

Abstract

Despite its crucial role in the regulation of vital metabolic and neurological functions, the genetic architecture of the hypothalamus remains unknown. Here we conducted multivariate genome-wide association studies (GWAS) using hypothalamic imaging data from 32,956 individuals to uncover the genetic underpinnings of the hypothalamus and its involvement in neuropsychiatric traits. There were 23 significant loci associated with the whole hypothalamus and its subunits, with functional enrichment for genes involved in intracellular trafficking systems and metabolic processes of steroid-related compounds. The hypothalamus exhibited substantial genetic associations with limbic system structures and neuropsychiatric traits including chronotype, risky behaviour, cognition, satiety and sympathetic–parasympathetic activity. The strongest signal in the primary GWAS, the ADAMTS8 locus, was replicated in three independent datasets (N = 1,685–4,321) and was strengthened after meta-analysis. Exome-wide association analyses added evidence to the association for ADAMTS8, and Mendelian randomization showed lower ADAMTS8 expression with larger hypothalamic volumes. The current study advances our understanding of complex structure–function relationships of the hypothalamus and provides insights into the molecular mechanisms that underlie hypothalamic formation.

Details

Original languageEnglish
Pages (from-to)779-793
Number of pages15
JournalNature human behaviour
Volume8
Issue number4
Publication statusPublished - Apr 2024
Peer-reviewedYes

External IDs

Scopus 85181497496
ORCID /0000-0001-5615-3645/work/175742222
ORCID /0000-0001-5398-5569/work/175768363

Keywords

Keywords

  • Humans, Genome-Wide Association Study, Hypothalamus/metabolism, Male, Female, Adult, Mental Disorders/genetics, ADAMTS Proteins/genetics, Middle Aged, Mendelian Randomization Analysis

Library keywords