Tests of variances, means and correlations.

<p>Note: vs = versus, -2LL = -2 log likelihood, df = degrees of freedom, <i>p</i> = <i>p</i>-value</p><p>The best fitting model is printed in bold.</p

Maximum likelihood parameter estimates and goodness of fit indices from the extended twin design for borderline personality (95% confidence intervals in parentheses for the best fitting model).

<p>Model I: cultural transmission model</p><p>Model II: dominance model; no cultural transmission</p><p>Model III: as model II, no dominance</p><p>Model IV: as model III, no additive genetic effects</p><p>Model V: as model II, no assortment</p><p>Best fitting model printed in bold.</p

Number of twins, siblings, parents and spouses and their mean age (standard deviation) and age range.

<p>Number of twins, siblings, parents and spouses and their mean age (standard deviation) and age range.</p

Correlations for BPD features between family members of different degrees of relatedness (number of pairs) and 95% confidence intervals.

<p>The bottom 4 bars collapse across categories above.</p

a-b Association plots of the genomewide significant variant rs13334105, showing its location with the RBFOX1 gene region.

<p>a-b Association plots of the genomewide significant variant rs13334105, showing its location with the RBFOX1 gene region.</p

Differential gene expression of discordant MZs pairs.

<p>The two ITM2B exons differentially expressed to a statistically significant degree are shown in bold.</p

Neuronal depolarisation induces the movement of Fox1 protein from cytoplasm to the nucleus where it is coded by RBFOX1 and increases its capacity to induce splice sites (1).

<p>Gabrg2 is regulated by RBFOX1 through the binding of Fox1 protein 1 and Nova near the 5′ and 3′ splice sites of the downstream intron through the targeting of the RNA hexanucleotide UGCAUG (2). Binding to the conserved UGCAUG elements cause an inclusion of 8 amino acids (LLRMFSFK) on the intracellular loop between the M3 and M4 transmembrane domain site. This creates a putative for protein kinase C (PKC) which is a point for serine phosphorylation (3). Phosphorylation of serine alters the γ2 subunit structure of the GABA (A) receptor which controls the regulation of GABAergic neuronal transmission (4).</p

a-b. Otowa <i>et al</i>. identified SNPs within the RBFOX1 intronic region with unadjusted p-values of significance, (a) rs17664315 (p = 0.00037) for case-control and (b) rs7203983 (p = 0.00250) for factor scores.

<p>a-b. Otowa <i>et al</i>. identified SNPs within the RBFOX1 intronic region with unadjusted p-values of significance, (a) rs17664315 (p = 0.00037) for case-control and (b) rs7203983 (p = 0.00250) for factor scores.</p

a:b: Manhattan and qq plot of ASI GWAS with RBFOX1 gene region highlighted.

<p>(a) The rs13334105 SNP (p values 4.39 x 10–8) highlighted in green is the only variant to show genomewide significant association with ASI. (b) The qq plot of ASI GWAS.</p

Residualised gene expression showing higher expression levels of the ITM2B gene in the affected twin in comparison to the unaffected sibling in the independent sample.

<p>Residualised gene expression showing higher expression levels of the ITM2B gene in the affected twin in comparison to the unaffected sibling in the independent sample.</p