Polygenic risk for severe psychopathology among Europeans is associated with major depressive disorder in Han Chinese women.

BACKGROUND: Previous studies have demonstrated that several major psychiatric disorders are influenced by shared genetic factors. This shared liability may influence clinical features of a given disorder (e.g. severity, age at onset). However, findings have largely been limited to European samples; little is known about the consistency of shared genetic liability across ethnicities. METHOD: The relationship between polygenic risk for several major psychiatric diagnoses and major depressive disorder (MDD) was examined in a sample of unrelated Han Chinese women. Polygenic risk scores (PRSs) were generated using European discovery samples and tested in the China, Oxford, and VCU Experimental Research on Genetic Epidemiology [CONVERGE (maximum N = 10 502)], a sample ascertained for recurrent MDD. Genetic correlations between discovery phenotypes and MDD were also assessed. In addition, within-case characteristics were examined. RESULTS: European-based polygenic risk for several major psychiatric disorder phenotypes was significantly associated with the MDD case status in CONVERGE. Risk for clinically significant indicators (neuroticism and subjective well-being) was also associated with case-control status. The variance accounted for by PRS for both psychopathology and for well-being was similar to estimates reported for within-ethnicity comparisons in European samples. However, European-based PRS were largely unassociated with CONVERGE family history, clinical characteristics, or comorbidity. CONCLUSIONS: The shared genetic liability across severe forms of psychopathology is largely consistent across European and Han Chinese ethnicities, with little attenuation of genetic signal relative to within-ethnicity analyses. The overall absence of associations between PRS for other disorders and within-MDD variation suggests that clinical characteristics of MDD may arise due to contributions from ethnicity-specific factors and/or pathoplasticity.

SNP-based heritability estimates of the personality dimensions and polygenic prediction of both neuroticism and major depression: findings from CONVERGE.

Biometrical genetic studies suggest that the personality dimensions, including neuroticism, are moderately heritable (~0.4 to 0.6). Quantitative analyses that aggregate the effects of many common variants have recently further informed genetic research on European samples. However, there has been limited research to date on non-European populations. This study examined the personality dimensions in a large sample of Han Chinese descent (N=10 064) from the China, Oxford, and VCU Experimental Research on Genetic Epidemiology study, aimed at identifying genetic risk factors for recurrent major depression among a rigorously ascertained cohort. Heritability of neuroticism as measured by the Eysenck Personality Questionnaire (EPQ) was estimated to be low but statistically significant at 10% (s.e.=0.03, P=0.0001). In addition to EPQ, neuroticism based on a three-factor model, data for the Big Five (BF) personality dimensions (neuroticism, openness, conscientiousness, extraversion and agreeableness) measured by the Big Five Inventory were available for controls (n=5596). Heritability estimates of the BF were not statistically significant despite high power (>0.85) to detect heritabilities of 0.10. Polygenic risk scores constructed by best linear unbiased prediction weights applied to split-half samples failed to significantly predict any of the personality traits, but polygenic risk for neuroticism, calculated with LDpred and based on predictive variants previously identified from European populations (N=171 911), significantly predicted major depressive disorder case-control status (P=0.0004) after false discovery rate correction. The scores also significantly predicted EPQ neuroticism (P=6.3 × 10-6). Factor analytic results of the measures indicated that any differences in heritabilities across samples may be due to genetic variation or variation in haplotype structure between samples, rather than measurement non-invariance. Findings demonstrate that neuroticism can be significantly predicted across ancestry, and highlight the importance of studying polygenic contributions to personality in non-European populations.

Multidimensional aspects of pain in HIV-infected individuals.

To study the prevalence, intensity, and quality of pain in patients with human immunodeficiency virus (HIV) infection and to evaluate factors influencing the different components of pain, a self-administered multidimensional pain questionnaire (Italian Pain Questionnaire [IPQ]) was administered to 153 HIV patients admitted to the Department of Infectious Diseases of a teaching hospital over a 7-month period. Ninety-three (60.8%) patients experienced pain for a total of 131 pain sites. The intensity and the nonsensorial components of pain were greater in ward patients compared to outpatients. In 70% of pain syndromes it was not possible to define the etiology at the time of the visit. Pain was observed more frequently in intravenous drug users (IDUs) (72.9%) compared to patients with other HIV modalities of transmission (50.6%) (p = 0.008). The mean value of sensory class was greater in patients who were not IDUs. Within IDUs group there was a predominance of descriptors of the affective class over the sensory class. The prevalence of pain is high in HIV-infected individuals. The different components of pain are influenced by the modality of transmission and the setting of care. The assessment of scores of different components of pain could help to select and monitor appropriate interventions in pain control.

Multicentre study on the prevalence of symptoms and symptomatic treatment in HIV infection. Central Italy PRESINT Group.

We investigated the prevalence and intensity of symptoms and the use of drugs for symptom control among all HIV-infected patients reporting to the outpatient clinics or wards of 15 clinical centres in central Italy, recording clinical and epidemiological data on three consecutive days. A total of 1128 patients were observed and tabulated. Their most frequent symptoms were asthenia (65%), anorexia (34%), cough (32%), pain (29%), and fever (29%). Opioid analgesics were used in 3% of these patients and non-opioid analgesics in 13%. A large majority of HIV-infected patients presented with symptoms regardless of the stage of their disease. Pain was present in fewer than one third of patients but nonetheless seemed to be undertreated. Pain was more frequent and more intense among intravenous drug users. Based on our study, a greater effort to control symptoms in HIV patients seems to be warranted.