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Highlights d Three groups of highly genetically-related disorders among 8 psychiatric disorders d Identified 109 pleiotropic loci affecting more than one disorder d Pleiotropic genes show heightened expression beginning in 2 nd prenatal trimester d Pleiotropic genes play prominent roles in neurodevelopmental processes Authors Cross-Disorder Group of the Psychiatric Genomics Consortium

Objective To conduct a genome-wide association study (GWAS) of anorexia nervosa and to calculate genetic correlations with a series of psychiatric, educational, and metabolic phenotypes. Method Following uniform quality control and imputation using the 1000 Genomes Project (phase 3) in 12 case-control cohorts comprising 3,495 anorexia nervosa cases and 10,982 controls, we performed standard association analysis followed by a meta-analysis across cohorts. Linkage disequilibrium score regression (LDSC) was used to calculate genome-wide common variant heritability [ hSNP2, partitioned heritability, and genetic correlations (rg)] between anorexia nervosa and other phenotypes. Results Results were obtained for 10,641,224 single nucleotide polymorphisms (SNPs) and insertion-deletion variants with minor allele frequency > 1% and imputation quality scores > 0.6. The hSNP2 of anorexia nervosa was 0.20 (SE=0.02), suggesting that a substantial fraction of the twin-based heritability arises from common genetic variation. We identified one genome-wide significant locus on chromosome 12 (rs4622308, p=4.3×10−9) in a region harboring a previously reported type 1 diabetes and autoimmune disorder locus. Significant positive genetic correlations were observed between anorexia nervosa and schizophrenia, neuroticism, educational attainment, and high density lipoprotein (HDL) cholesterol, and significant negative genetic correlations between anorexia nervosa and body mass index, insulin, glucose, and lipid phenotypes. Conclusions Anorexia nervosa is a complex heritable phenotype for which we have found the first genome-wide significant locus. Anorexia nervosa also has large and significant genetic correlations with both psychiatric phenotypes and metabolic traits. Our results encourage a reconceptualization of this frequently lethal disorder as one with both psychiatric and metabolic etiology.

Objective: the aim of this longitudinal study was to evaluate the impact of COVID-19 epidemic on Eating Disorders (EDs) patients, considering the role of pre-existing vulnerabilities. Method: 74 patients with Anorexia Nervosa (AN) or Bulimia Nervosa (BN) and 97 healthy controls (HCs) were evaluated before lockdown (T1) and during lockdown (T2). Patients were also evaluated at the beginning of treatment (T0). Questionnaires were collected to assess psychopathology, childhood trauma, attachment style, and COVID-19-related post-traumatic symptoms. Results: A different trend between patients and HCs was observed only for pathological eating behaviors. Patients experienced increased compensatory exercise during lockdown; BN patients also exacerbated binge eating. Lockdown interfered with treatment outcomes: the descending trend of ED-specific psychopathology was interrupted during the epidemic in BN patients. Previously remitted patients showed re-exacerbation of binge eating after lockdown. Household arguments and fear for the safety of loved ones predicted increased symptoms during the lockdown. BN patients reported more severe COVID-19-related post-traumatic symptomatology than AN and HCs, and these symptoms were predicted by childhood trauma and insecure attachment. Discussion: COVID-19 epidemic significantly impacted on EDs, both in terms of post-traumatic symptomatology and interference with the recovery process. Individuals with early trauma or insecure attachment were particularly vulnerable.

Among EDs, there are different subgroups of patients displaying various courses and outcomes. The diagnostic instability involves the large majority of patients. An integration of categorical and dimensional approaches could improve the psychopathological investigation and the treatment choices.

Background In March 2020, COVID-19 was declared to be a pandemic. While data suggests that COVID-19 is not associated with significant adverse health outcomes for pregnant women and newborns, the psychological impact on pregnant women is likely to be high. Aim The aim was to explore the psychological impact of the COVID-19 pandemic on Italian pregnant women, especially regarding concerns and birth expectations. Methods A cross-sectional online survey of pregnant women in Italy was conducted. Responses were analysed for all women and segregated into two groups depending on previous experience of pregnancy loss. Analysis of open text responses examined expectations and concerns before and after the onset of the pandemic. Findings Two hundred pregnant women responded to the first wave of the survey. Most (n = 157, 78.5%) had other children and 100 (50.0%) had a previous history of perinatal loss. ‘Joy’ was the most prevalent emotion expressed before COVID-19 (126, 63.0% before vs 34, 17.0% after; p < 0.05); fear was the most prevalent after (15, 7.5% before vs 98, 49.0% after; p < 0.05). Positive constructs were prevalent before COVID-19, while negative ones were dominant after (p < 0.05). Across the country, women were concerned about COVID-19 and a history of psychological disorders was significantly associated with higher concerns (p < 0.05). A previous pregnancy loss did not influence women’s concerns. Conclusions Women’s expectations and concerns regarding childbirth changed significantly as a result of the COVID-19 pandemic in Italy. Women with a history of psychological disorders need particular attention as they seem to experience higher levels of concern.

The increased vulnerability of UHR subjects can be related to environmental risk factors like childhood trauma, adverse life events and affective dysfunction. The role of genetic and epigenetic risk factors awaits clarification.

Patients with diabetes mellitus (DM) were more often hypogonadal than normal fasting glucose subjects. The aim of this investigation is the assessment of characteristics and psychobiological correlates of DM associated with hypogonadism (DMAH). The Structured Interview SIEDY r was used along with several biochemical, psychological and instrumental investigations in a series of more than 1200 patients with erectile dysfunction (ED); 16% of whom with type II DM. Hypogonadism was defined as circulating total testosterone (T) below 10.4 nmol/l. The prevalence of hypogonadism was 24.5% in DM versus 12.6% in the rest of the sample (Po0.0001); differences in the prevalence of hypogonadism retained significance after adjustment for age and BMI. DMAH was associated with typical hypogonadism-related symptoms, such as reduction in sexual desire, leading to a decreased number of sexual attempts, and with higher depressive symptomatology. In DMAH, testis size and LH concentrations were significantly reduced, suggesting a central origin of the disease. At penile Duplex ultrasound examination, diabetic patients and in particular hypogonadal type II diabetic patients showed lower levels of basal and dynamic (after PGE 1 injection) peak systolic velocity and acceleration, when compared to the rest of the sample, even after adjustment for age and BMI. Our results show that hypogonadism is frequently associated with type II DM, at least in the 6th decade. DMAH might exacerbate sexual dysfunction by reducing libido and mood and further compromising penile vascular reactivity.