We conducted the largest genome-wide meta-analysis of borderline personality disorder (BPD) to date, with a discovery sample of 12,339 cases and 1,041,717 controls, and a replication study of 685 cases and 107,750 controls (all participants of European ancestry). We identified 11 independent associated genomic loci, and nine risk genes in the gene-based analysis. We observed a single-nucleotide polymorphism (SNP) heritability of 17.
View Article and Find Full Text PDFBackground: Sarcoidosis is a multisystem granulomatous disease of unclear cause. An environmental trigger in a genetically susceptible individual resulting in immune dysregulation is suspected. More than 90% of cases of sarcoidosis involve the lungs, suggesting that inhaled environmental antigens contribute to the onset of disease.
View Article and Find Full Text PDFIntroduction: One in four cases of asthma in adults is caused or worsened by work (work-related asthma: WRA). Early detection of WRA could prevent poor health and employment outcomes, but clinical diagnosis is often missed or delayed. The standardisation and effectiveness of screening tools have not been well established.
View Article and Find Full Text PDFAbsence of dystrophin protein causes cardiac dysfunction in patients with Duchenne muscular dystrophy (DMD). Unlike boys with DMD, the common mouse model of DMD (B10-mdx) does not manifest cardiac deficits until late adulthood. This has limited our understanding of the mechanism and therapeutic approaches to target the pediatric onset of cardiac pathology in DMD.
View Article and Find Full Text PDFPsychiatric disorders display high levels of comorbidity and genetic overlap. Genomic methods have shown that even for schizophrenia and bipolar disorder, two disorders long-thought to be etiologically distinct, the majority of genetic signal is shared. Furthermore, recent cross-disorder analyses have uncovered over a hundred pleiotropic loci shared across eight disorders.
View Article and Find Full Text PDF