I'm running between eating disorders and bipolar this afternoon. Starting in eating disorders, where Nadia Micali is introducing the phenotypes. Eating disorders are very underfunded given how frequent and deadly they are #WCPG2022
AN is characterised by food restriction, low body weight [although see atypical AN] and fear of weight gain / weight loss behaviours #WCPG2022
Binge eating is eating a large amount of food with loss of control. In the disorder version, there are no compensatory behaviours (compare bulimia nervosa) #WCPG2022
ARFID is a restricted intake disorder, resulting in persistent failure to meet energy or nutritional needs but without weight concerns (and across BMI distribution). New disorder on the block, research including genetics, building up #WCPG2022
First talk is from Jet Termorshuizen who will discuss the latest @PGCgenetics GWAS of anorexia nervosa #WCPG2022
Last GWAS found 8 loci, SNP h2 11-17% depending on prevalence. Positive RG with psych and physical activity, negative RG with metabolic and anthoprometric. AN is a psychometabolic disorder #WCPG2022
New GWAS - additional data. Imputed to TopMED where possible. MLMs where possible. QC and meta-analysis via the Ricopili pipeline. #WCPG2022
AN 24K cases, 1M controls. PRELIMINARY results show 7 GWS hits and h2 of 8%. Mix of new (2) and replicated (5) loci #WCPG2022
AN-R - no robust GWS hit (one locus, doesn't have LD friends). SNP based h2 of 11%. AN-BP - 1 GWS locus near EPC gene, h2 is 19% #WCPG2022
Genetic correlations - see the same patterns as in last freeze for AN. Some differences between AN-R and AN-BP - AN-R seems to have stronger negative RG for anthropometric traits - need to check further for significance. #WCPG2022
To do - revisit QC etc, understand within sample heterogeneity, sex differences. Sample predominantly of EUR ancestry, efforts to expand to EAS, LAT underway. #WCPG2022
• • •
Missing some Tweet in this thread? You can try to
force a refresh
PGC 1000+ scientists from 50+ countries. Primary funding from NIH, but many others as well. 8 sites, 16 PIs in USA, UK, and Ireland. Coordinating committee including regional representatives. #WCPG2022
I am in the #WCPG2022 IDEA plenary, which discusses the need and approaches to decolonising psychiatric genetics. Panel members are Olivia Matshabane, Paola Giusti-Rodriguez @paolagiustirodriguez, @hailianghuang, and @MeeraPurushott1. Chairs are Lea Davis and John Nurnberger.
[I will tweet as much as I can here, but a discussion is always more challenging to tweet]
First question highlights the impact of colonialism in research. This includes lack of resources and support for ECRs, the need for engaging with and working alongside studied groups throughout the research process, including subsequent data storage, access and usage. #WCPG2022
Next is Omar Shanta who will talk about a GWAS of CNVs in 500k individuals (127k cases, mostly EUR, some AFR). Needed consistent CNV calling across entire cohort. Difficult platforms, which makes things challenging. #WCPG2022
Aims: what is the contribution of rare CNVs, which are those CNVs per disorder, how do rare CNVs compare across disorders? #WCPG2022
Assess multiple metrics of CNV burden, comparing tier 1 (pli > 0.5) and tier 2 (pLI < 0.5). #WCPG2022
I'm back (after a slightly longer lunch) - @juandelahozco is presenting on longitudinal trajectories in the EHR from the Clínica San Juan de Dios, Manizales, Colombia. #WCPG2022
Diagnoses of severe mental illness from ICD10, validated against structured interview and chart review. Some BIP-MDD mismatches (see tweets on @loldeloo talk earlier), but agreement is generally very good, especially for SCZ #WCPG2022
Want to extract presentation information from notes - developed NLP algorithm, required named entity recognition and negation detection. Extracted features align with ICD10 codes #WCPG2022
I am in the PUMAS session at #WCPG2022, listening to @b_gelaye talking about the NeuroGAP study
NeuroGAP seeks to build collaboration across Africa, particularly across early career researchers. Phenotyping working group has members across Kenya, Uganda, Ethiopia and South Africa, as well as from the Broad. Lots of clinicians, valuable for building phenotypes #WCPG2022
8 phenotyping manuscripts accepted, 8 more to come, describing the details of psychiatric phenotyping within and across different African countries #WCPG2022
It's day 3, and @sebatlab is outlining the spectrum of genetic influences that affect autism. Clear that although there are strong rare variant effects, these are not monogenic disorders #WCPG2022
Combining together results from common, rare, and structural variants allows a broader picture of genetic risk. See over-transmission of genetic risk at all levels from parents to affected children #WCPG2022
Can combine common and rare variants together into scores that are more predictive than either score alone. Inverse correlation - individuals with autism with high rare score tend to have lower common score [conditional on having autism - crosses liability threshold] #WCPG2022