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- Watson, H. J., et al.
(författare)
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Genome-wide association study identifies eight risk loci and implicates metabo-psychiatric origins for anorexia nervosa
- 2019
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Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 51:8, s. 1207-
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Tidskriftsartikel (refereegranskat)abstract
- Characterized primarily by a low body-mass index, anorexia nervosa is a complex and serious illness(1), affecting 0.9-4% of women and 0.3% of men(2-4), with twin-based heritability estimates of 50-60%(5). Mortality rates are higher than those in other psychiatric disorders(6), and outcomes are unacceptably poor(7). Here we combine data from the Anorexia Nervosa Genetics Initiative (ANGI)(8,9) and the Eating Disorders Working Group of the Psychiatric Genomics Consortium (PGC-ED) and conduct a genome-wide association study of 16,992 cases of anorexia nervosa and 55,525 controls, identifying eight significant loci. The genetic architecture of anorexia nervosa mirrors its clinical presentation, showing significant genetic correlations with psychiatric disorders, physical activity, and metabolic (including glycemic), lipid and anthropometric traits, independent of the effects of common variants associated with body-mass index. These results further encourage a reconceptualization of anorexia nervosa as a metabo-psychiatric disorder. Elucidating the metabolic component is a critical direction for future research, and paying attention to both psychiatric and metabolic components may be key to improving outcomes.
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- Geyer, Holly, et al.
(författare)
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Symptomatic Profiles of Patients With Polycythemia Vera : Implications of Inadequately Controlled Disease
- 2016
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Ingår i: Journal of Clinical Oncology. - 0732-183X .- 1527-7755. ; 34:2, s. 151-
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Tidskriftsartikel (refereegranskat)abstract
- PURPOSE: Polycythemia vera (PV) is a myeloproliferative neoplasm (MPN) associated with disabling symptoms and a heightened risk of life-threatening complications. Recent studies have demonstrated the effectiveness of JAK inhibitor therapy in patients with PV patients who have a history of prior hydroxyurea (HU) use (including resistance or intolerance), phlebotomy requirements, and palpable splenomegaly. We aimed to determine how these features contribute alone and in aggregate to the PV symptom burden.PATIENTS AND METHODS: Through prospective evaluation of 1,334 patients with PV who had characterized symptom burden, we assessed patient demographics, laboratory data, and the presence of splenomegaly by disease feature (ie, known HU use, known phlebotomy requirements, splenomegaly).RESULTS: The presence of each feature in itself is associated with a moderately high symptom burden (MPN symptom assessment form [SAF] total symptom score [TSS] range, 27.7 to 29.2) that persists independent of PV risk category. In addition, symptoms incrementally increase in severity with the addition of other features. Patients with PV who had all three features (PV-HUPS) faced the highest total score (MPN-SAF TSS, 32.5) but had similar individual symptom scores to patients with known HU use (PV-HU), known phlebotomy (PV-P), and splenomegaly (PV-S).CONCLUSION: The results of this study suggest that patients with PV who have any one of the features in question (known HU use, known phlebotomy, or splenomegaly) have significant PV-associated symptoms. Furthermore, it demonstrates that many PV symptoms remain severe independent of the number of features present.
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- Birgegard, A, et al.
(författare)
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Self-image and risk of suicide in eating disorders
- 2017
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Ingår i: EUROPEAN PSYCHIATRY. - : Cambridge University Press (CUP). - 0924-9338 .- 1778-3585. ; 41, s. S281-S281
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Konferensbidrag (övrigt vetenskapligt/konstnärligt)abstract
- Suicide risk is increased in eating disorders (ED), and detection is key to prevention. Self-image as operationalized in the structural analysis of social behavior (SASB) model has been shown to be associated with symptoms, treatment dropout, and outcome. SASB is a circumplex organizing self-directed behaviors along affiliation (love vs. hate) and autonomy (set free vs. control) dimensions. In a recent study, SASB related to health care-detected suicide attempts in ED. Methodology in that study ensured high specificity but risked lower sensitivity in suicide variables, and with such a high-threat outcome, research is needed on additional variables related to risk.Objectives and aimsWe aimed to study associations between SASB self-image and clinician- and self-rated suicidality at presentation and predicted over 12 months in ED patients.MethodsAdult patients (n = 551) from a Swedish clinical database included 19% anorexia, 32% bulimia, 7% binge ED, and 42% other ED. We ran separate regression models for these diagnostic groups using SASB questionnaire data, also controlling for general psychiatric and ED symptoms, and in longitudinal models including baseline of each outcome.ResultsSASB alone was associated with suicidality at presentation (9–67% variance explained) and predictively over 12 months (7–29%), and in the majority of models explained additional variance beyond baseline and clinical variables. Both affiliation and autonomy related to dependent variables in diagnosis-specific patterns.ConclusionsThe findings have implications for both theory and detection tools for suicide risk, as well as suggesting intervention targets to mitigate risk in treatment based on the well-validated SASB theory.Disclosure of interestThe authors have not supplied their declaration of competing interest.
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