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GWAS Study

The X chromosome's influences on the human brain.

Jiang Z, Sullivan PF, Li T et al.

39854466 PubMed ID
GWAS Study Type
38309 Participants
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Chapter I

Publication Details

Comprehensive information about this research publication

Authors

JZ
Jiang Z
SP
Sullivan PF
LT
Li T
ZB
Zhao B
WX
Wang X
LT
Luo T
HS
Huang S
GP
Guan PY
CJ
Chen J
YY
Yang Y
SJ
Stein JL
LY
Li Y
LD
Liu D
SL
Sun L
ZH
Zhu H
Chapter II

Abstract

Summary of the research findings

Genes on the X chromosome are extensively expressed in the human brain. However, little is known for the X chromosome's impact on the brain anatomy, microstructure, and functional networks. We examined 1045 complex brain imaging traits from 38,529 participants in the UK Biobank. We unveiled potential autosome-X chromosome interactions while proposing an atlas outlining dosage compensation for brain imaging traits. Through extensive association studies, we identified 72 genome-wide significant trait-locus pairs (including 29 new associations) that share genetic architectures with brain-related disorders, notably schizophrenia. Furthermore, we found unique sex-specific associations and assessed variations in genetic effects between sexes. Our research offers critical insights into the X chromosome's role in the human brain, underscoring its contribution to the differences observed in brain structure and functionality between sexes.

33,371 European ancestry individuals

Chapter III

Study Statistics

Key metrics and study information

38309
Total Participants
GWAS
Study Type
Yes
Replicated
4,181 European ancestry individuals, 462 Chinese, South Asian ancestry individuals, 295 African ancestry individuals
Replication Participants
European, South Asian, East Asian, African unspecified
Ancestry
U.K.
Recruitment Country
Chapter IV

Analysis

Comprehensive review of health and genetic findings

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