Africa, the ancestral home of all modern humans, is the most informative continent for understanding the human genome and its contribution to complex disease. To better understand the genetics of schizophrenia, we studied the illness in the Xhosa population of South Africa, recruiting 909 cases and 917 age-, gender-, and residence-matched controls. Individuals with schizophrenia were significantly more likely than controls to harbor private, severely damaging mutations in genes that are critical to synaptic function, including neural circuitry mediated by the neurotransmitters glutamine, γ-aminobutyric acid, and dopamine. Schizophrenia is genetically highly heterogeneous, involving severe ultrarare mutations in genes that are critical to synaptic plasticity. The depth of genetic variation in Africa revealed this relationship with a moderate sample size and informed our understanding of the genetics of schizophrenia worldwide.

BackgroundCell line immortalisation is a growing component of African genomics research and biobanking. However, little is known about the factors influencing consent to cell line creation and immortalisation in African research settings. We contribute to addressing this gap by exploring three questions in a sample of Xhosa participants recruited for a South African psychiatric genomics study: First, what proportion of participants consented to cell line storage? Second, what were predictors of this consent? Third, what questions were raised by participants during this consent process?Methods760 Xhose people with schizophrenia and 760 controls were matched to sex, age, level of education and recruitment region. We used descriptive statistics to determine the proportion of participants who consented to cell line creation and immortalization. Logistic regression methods were used to examine the predictors of consent. Reflections from study recruiters were elicited and discussed to identify key questions raised by participants about consent.ResultsApproximately 40% of participants consented to cell line storage. The recruiter who sought consent was a strong predictor of participant’s consent. Participants recruited from the South African Eastern Cape (as opposed to the Western Cape), and older participants (aged between 40 and 59 years), were more likely to consent; both these groups were more likely to hold traditional Xhosa values. Neither illness (schizophrenia vs control) nor education (primary vs secondary school) were significant predictors of consent. Key questions raised by participants included two broad themes: clarification of what cell immortalisation means, and issues around individual and community benefit.ConclusionsThese findings provide guidance on the proportion of participants likely to consent to cell line immortalisation in genomics research in Africa, and reinforce the important and influential role that study recruiters play during seeking of this consent. Our results reinforce the cultural and contextual factors underpinning consent choices, particularly around sharing and reciprocity. Finally, these results provide support for the growing literature challenging the stigmatizing perception that people with severe mental illness are overly vulnerable as a target group for heath research and specifically genomics studies.Electronic supplementary materialThe online version of this article (10.1186/s12910-018-0313-2) contains supplementary material, which is available to authorized users.

Objective: Various countries and states have established telephone counselling lines for people with pathological or problem gambling. Data from such services may contribute to describing systematically the nature of gambling problems in a particular area. To date, however, few data have been published on such a telephone counselling line in a low or middle income country. Method: Data on calls to the telephone counselling line of the National Responsible Gambling Foundation of South Africa were captured over a 6-month period. Such data include socio-demographic variables, the primary reason for calling, the source of the referral, preferred method of gambling, impairment as a consequence of gambling, and history of treatment for psychiatric disorders, comorbid alcohol abuse and illicit drug use. Results: Calls were received from a broad range of people; the mean age of callers was 37 years, the majority were male (62%) and many were married (45%). Primary reasons for calling included the feeling of being unable to stop gambling without the help of a professional (41%), financial concerns (32%), legal problems (13%), pressure from family (10%), and suicidal thoughts (2%). The majority of callers contacted the counselling line after having heard about it by word of mouth (70%). The most common forms of gambling were slot machines (51%) and casino games (21%). Fourteen percent of callers reported having received help for other psychiatric disorders, 11% reported alcohol use disorders and 6% illicit drug use. Conclusion: These data from South Africa are consistent with prior research indicating that pathological and problem gambling are seen in a range of socio-demographic groups, and that such behaviour is associated with significant morbidity and comorbidity. More work is needed locally to inform younger gamblers, gamblers using the informal gambling sector, and unemployed gamblers of the existing telephone counselling lines.

Background: Trauma exposure is widespread and linked to chronic physical and mental health conditions including posttraumatic stress disorder. However, there are major gaps in our knowledge of trauma exposure in Africa and on the validity of instruments to assess potentially life-threatening trauma exposure. Objective: The Life Events Checklist for the DSM-5 (LEC-5) is a free, widely used questionnaire to assess traumatic events that can be associated with psychopathology. As part of a case–control study on risk factors for psychosis spectrum disorders, we used the LEC-5 to examine the frequency of traumatic events and to assess the questionnaire’s factor structure in South Africa ( N = 6,765). Method: The prevalence of traumatic events was measured by individual items on the LEC-5 across the study sample, by case–control status, and by sex. Cumulative trauma burden was calculated by grouping items into 0, 1, 2, 3, and ≥4 traumatic event types. Psychometric properties of the LEC-5 were assessed through exploratory and confirmatory factor analyses. Results: More than 92% of the study sample reported experiencing ≥1 traumatic event; 38.7% reported experiencing ≥4 traumatic event types. The most endorsed item was physical assault (65.0%), followed by assault with a weapon (50.2%). Almost 94% of cases reported ≥1 traumatic event compared to 90.5% of controls ( p < .001) and 94% of male participants reported ≥1 traumatic event compared to 89.5% of female participants ( p < .001). Exploratory factor analysis revealed a 6-factor model. Confirmatory factor analyses of three models found that a 7-factor model based on the South African Stress and Health survey was the best fit (standardized root mean square residual of 0.024, root mean square error of approximation of 0.029, comparative fit index of 0.910). Conclusion: Participants reported very high exposure to traumatic events. The LEC-5 has good psychometric priorities and is adequate for capturing trauma exposure in South Africa.

Pathological gambling is a prevalent and disabling mental illness, which is frequently associated with mood, anxiety, and substance use disorders. However, there is relatively little data on comorbidity in individuals with pathological gambling from low and middle income countries such as South-Africa. The Mini-International Neuropsychiatric Interview was used to assess the frequency of DSM-IV-TR disorders among 100 male and 100 female treatment-seeking individuals with pathological gambling in South-Africa. The Sheehan Disability Scale was used to assess functional impairment. In a South-African sample of individuals with pathological gambling, the most frequent current comorbid psychiatric disorders were major depressive disorder (28%), anxiety disorders (25.5%) and substance use disorders (10.5 %). Almost half of the individuals had a lifetime diagnosis of major depressive disorder (46%). Female pathological gamblers were significantly more likely to be diagnosed with a comorbid major depressive disorder or generalised anxiety disorder than their male counterparts. Data from South-Africa are consistent with previously published data from high income countries. Psychiatric comorbidity is common among individuals with pathological gambling.