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GWAS Study

KCTD8 gene and brain growth in adverse intrauterine environment: a genome-wide association study.

Paus T, Bernard M, Chakravarty MM et al.

22156575 PubMed ID
GWAS Study Type
3158 Participants
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Chapter I

Publication Details

Comprehensive information about this research publication

Authors

PT
Paus T
BM
Bernard M
CM
Chakravarty MM
DS
Davey Smith G
GJ
Gillis J
LA
Lourdusamy A
MM
Melka MG
LG
Leonard G
PP
Pavlidis P
PM
Perron M
PG
Pike GB
RL
Richer L
SG
Schumann G
TN
Timpson N
TR
Toro R
VS
Veillette S
PZ
Pausova Z
Chapter II

Abstract

Summary of the research findings

The most dramatic growth of the human brain occurs in utero and during the first 2 years of postnatal life. Genesis of the cerebral cortex involves cell proliferation, migration, and apoptosis, all of which may be influenced by prenatal environment. Here, we show that variation in KCTD8 (potassium channel tetramerization domain 8) is associated with brain size in female adolescents (rs716890, P = 5.40 × 10(-09)). Furthermore, we found that the KCTD8 locus interacts with prenatal exposure to maternal cigarette smoking vis-à-vis cortical area and cortical folding: In exposed girls only, the KCTD8 locus explains up to 21% of variance. Using head circumference as a proxy of brain size at 7 years of age, we have replicated this gene-environment interaction in an independent sample. We speculate that KCTD8 might modulate adverse effects of smoking during pregnancy on brain development via apoptosis triggered by low intracellular levels of potassium, possibly reducing the number of progenitor cells.

557 French Canadian female adolescent individuals

Chapter III

Study Statistics

Key metrics and study information

3158
Total Participants
GWAS
Study Type
Yes
Replicated
2,601 European ancestry adolescent individuals
Replication Participants
European
Ancestry
Canada, U.K.
Recruitment Country
Chapter IV

Analysis

Comprehensive review of health and genetic findings

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