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© Research
Publication : PloS one

Genome wide association study of incomplete hippocampal inversion in adolescents.

Scientific Fields
Diseases
Organisms
Applications
Technique

Published in PloS one - 01 Jan 2020

Cury C, Scelsi MA, Toro R, Frouin V, Artiges E, Grigis A, Heinz A, Lemaître H, Martinot JL, Poline JB, Smolka MN, Walter H, Schumann G, Altmann A, Colliot O, ,

Link to Pubmed [PMID] – 31990937

Link to DOI – 10.1371/journal.pone.0227355

PLoS One 2020 ; 15(1): e0227355

Incomplete hippocampal inversion (IHI), also called hippocampal malrotation, is an atypical presentation of the hippocampus present in about 20% of healthy individuals. Here we conducted the first genome-wide association study (GWAS) in IHI to elucidate the genetic underpinnings that may contribute to the incomplete inversion during brain development. A total of 1381 subjects contributed to the discovery cohort obtained from the IMAGEN database. The incidence rate of IHI was 26.1%. Loci with P<1e-5 were followed up in a validation cohort comprising 161 subjects from the PING study. Summary statistics from the discovery cohort were used to compute IHI heritability as well as genetic correlations with other traits. A locus on 18q11.2 (rs9952569; OR = 1.999; Z = 5.502; P = 3.755e-8) showed a significant association with the presence of IHI. A functional annotation of the locus implicated genes AQP4 and KCTD1. However, neither this locus nor the other 16 suggestive loci reached a significant p-value in the validation cohort. The h2 estimate was 0.54 (sd: 0.30) and was significant (Z = 1.8; P = 0.036). The top three genetic correlations of IHI were with traits representing either intelligence or education attainment and reached nominal P< = 0.013.

https://pubmed.ncbi.nlm.nih.gov/31990937