Fig 1.
T1 weighted MRI in a coronal view.
The left hippocampus (right side in the image) presents an incomplete hippocampal inversion (IHI). The right hippocampus (left side in the image) is an example of a normal or properly inverted hippocampus.
Fig 2.
Hippocampal anatomy in coronal view.
The hippocampus comprises the Dentate gyrus (DG), the cornus ammonis (CA) and the subiculum (sub). The temporal lobe is composed of five convolutions: T1, T2, T3, T4 and T5. The collateral sulcus divides T5 from T4 and the sulci of the fusiform gyrus separates T4 from T3. TH indicates the location of the temporal horn of the lateral ventricles.
Table 1.
Cohort summary statistics of participants used for the genetic analyses.
Fig 3.
The y-axis depicts the -log10(p-value) of the association between SNP and presence of IHI assuming an additive model in the discovery cohort. The SNPs tested in the study are ordered along their chromosomal position on the x-axis. The red horizontal line donates genome wide significance at the Bonferroni threshold (P = 5e-8), while the blue horizontal line marks the threshold for suggestive association (P = 1e-5).
Fig 4.
Regional association plot for rs9952569.
Table 2.
Suggestive loci from discovery GWAS and results in validation cohort (below).
Left side: The table displays the leads SNPs in the discovery cohort (IMAGEN) with p<1e-5 along with their chromosome, base pair (BP), alleles (A1, A2), subjects (N), odds ratio (OR), statistics (STAT) and P-value. Right side: The second table depicts the p-values for the SNPs (VALSNP) in the validation cohort (PING), along with their base pair, correlation to the discovery SNP (R2), alleles (A1, A2), OR and P-value.
Table 3.
Genetic correlations between IHI and other GWASs with nominal significance (p<0.05).