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Bipolar disorder is a highly heritable polygenic disorder. Recent
enrichment analyses suggest that there may be true risk variants for
bipolar disorder in the expression quantitative trait loci (eQTL) in the
We sought to assess the impact of eQTL variants on bipolar disorder risk
by combining data from both bipolar disorder genome-wide association
studies (GWAS) and brain eQTL.
To detect single nucleotide polymorphisms (SNPs) that influence
expression levels of genes associated with bipolar disorder, we jointly
analysed data from a bipolar disorder GWAS (7481 cases and 9250 controls)
and a genome-wide brain (cortical) eQTL (193 healthy controls) using a
Bayesian statistical method, with independent follow-up replications. The
identified risk SNP was then further tested for association with
hippocampal volume (n = 5775) and cognitive performance
(n = 342) among healthy individuals.
Integrative analysis revealed a significant association between a brain
eQTL rs6088662 on chromosome 20q11.22 and bipolar disorder (log Bayes
factor = 5.48; bipolar disorder P =
5.85×10–5). Follow-up studies across multiple independent
samples confirmed the association of the risk SNP (rs6088662) with gene
expression and bipolar disorder susceptibility (P =
3.54×10–8). Further exploratory analysis revealed that
rs6088662 is also associated with hippocampal volume and cognitive
performance in healthy individuals.
Our findings suggest that 20q11.22 is likely a risk region for bipolar
disorder; they also highlight the informative value of integrating
functional annotation of genetic variants for gene expression in
advancing our understanding of the biological basis underlying complex
disorders, such as bipolar disorder.
Plain radiography demonstrates osseous anatomy and provides some detail of the soft tissue anatomy.
Multi-slice CT allows high-resolution 3D reconstructions of the lower limb that enable exceptional visualization of the bony anatomy. Soft tissues including muscles, tendons and joints can also be identified but these are optimally assessed with sonography and MR imaging.
Sonography allows high spatial resolution and dynamic imaging of the soft tissues not obscured by osseous structures. It is particularly optimal for visualization of small and superficial structures (ligaments, tendons) as well as muscle compartments and the neonatal/infant hip.
MR imaging offers high contrast resolution imaging of the musculoskeletal anatomy. Intra-articular structures are optimally assessed on MR arthrography.
The pelvic bone is composed of three parts; the ilium, ischium and pubis. These meet at the triradiate cartilage, seen as a lucency within the acetabulum in the immature skeleton (Figs. 16.1– 16.3).
This profusely illustrated text will provide trainee radiologists with a unique overview of normal anatomy as illustrated by the full range of modern radiological procedures. The theme throughout is not only to illustrate the appearance of normal anatomical features as visualised by radiology, but to provide a comprehensive text which describes, explains and evaluates the most current imaging practice for all the body systems and organs. Where necessary, the images are supplemented with line drawings, to illustrate essential anatomical features. This combination of a wealth of high-quality images fully supported by an authoritative text will give all radiologists an insight into normal anatomy, which is such a vital prerequisite for interpreting abnormal radiological images. The volume is specifically designed for trainee radiologists. It will be an essential illustrated text for those studying Part 1 of the examination of the Fellowship of the Royal College of Radiologists, and also for trainees elsewhere in the world studying for their specialist examinations in radiology.