Current directions in biomarkers and endophenotypes for anorexia nervosa: A scoping review. 2021

Amy Malcolm, and Andrea Phillipou
Centre for Mental Health, Faculty of Health, Arts & Design, Swinburne University of Technology, Hawthorn, VIC, Australia. Electronic address: amalcolm@swin.edu.au.

There are currently no validated biomarkers for anorexia nervosa (AN), though recent literature suggests an increased research interest in this area. Biomarkers are objective, measurable indicators of illness that can be used to assist with diagnosis, risk assessment, and tracking of illness state. Related to biomarkers are endophenotypes, which are quantifiable phenomena that are distinct from symptoms and which link genes to manifest illness. In this scoping review, we sought to provide a summary of recent research conducted in the pursuit of biomarkers and endophenotypes for AN. The findings indicate that a number of possible biomarkers which can assess the presence or severity of AN independently of weight status, including psychophysical (e.g., eye-tracking) and biological (e.g., immune, endocrine, metabolomic, neurobiological) markers, are currently under investigation. However, this research is still in early phases and lacking in replication studies. Endophenotype research has largely been confined to the study of several neurocognitive features, with mixed evidence to support their classification as possible endophenotypes for the disorder. The study of biomarkers and endophenotypes in AN involves significant challenges due to confounding factors of illness-related sequalae, such as starvation. Future research in these areas must prioritise direct evaluation of the sensitivity, specificity and test-retest reliability of proposed biomarkers and enhanced control of confounding physical consequences of AN in the study of biomarkers and endophenotypes.

UI MeSH Term Description Entries
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000856 Anorexia Nervosa An eating disorder that is characterized by the lack or loss of APPETITE, known as ANOREXIA. Other features include excess fear of becoming OVERWEIGHT; BODY IMAGE disturbance; significant WEIGHT LOSS; refusal to maintain minimal normal weight; and AMENORRHEA. This disorder occurs most frequently in adolescent females. (APA, Thesaurus of Psychological Index Terms, 1994) Anorexia Nervosas,Nervosa, Anorexia,Nervosas, Anorexia
D015203 Reproducibility of Results The statistical reproducibility of measurements (often in a clinical context), including the testing of instrumentation or techniques to obtain reproducible results. The concept includes reproducibility of physiological measurements, which may be used to develop rules to assess probability or prognosis, or response to a stimulus; reproducibility of occurrence of a condition; and reproducibility of experimental results. Reliability and Validity,Reliability of Result,Reproducibility Of Result,Reproducibility of Finding,Validity of Result,Validity of Results,Face Validity,Reliability (Epidemiology),Reliability of Results,Reproducibility of Findings,Test-Retest Reliability,Validity (Epidemiology),Finding Reproducibilities,Finding Reproducibility,Of Result, Reproducibility,Of Results, Reproducibility,Reliabilities, Test-Retest,Reliability, Test-Retest,Result Reliabilities,Result Reliability,Result Validities,Result Validity,Result, Reproducibility Of,Results, Reproducibility Of,Test Retest Reliability,Validity and Reliability,Validity, Face
D015415 Biomarkers Measurable and quantifiable biological parameters (e.g., specific enzyme concentration, specific hormone concentration, specific gene phenotype distribution in a population, presence of biological substances) which serve as indices for health- and physiology-related assessments, such as disease risk, psychiatric disorders, ENVIRONMENTAL EXPOSURE and its effects, disease diagnosis; METABOLIC PROCESSES; SUBSTANCE ABUSE; PREGNANCY; cell line development; EPIDEMIOLOGIC STUDIES; etc. Biochemical Markers,Biological Markers,Biomarker,Clinical Markers,Immunologic Markers,Laboratory Markers,Markers, Biochemical,Markers, Biological,Markers, Clinical,Markers, Immunologic,Markers, Laboratory,Markers, Serum,Markers, Surrogate,Markers, Viral,Serum Markers,Surrogate Markers,Viral Markers,Biochemical Marker,Biologic Marker,Biologic Markers,Clinical Marker,Immune Marker,Immune Markers,Immunologic Marker,Laboratory Marker,Marker, Biochemical,Marker, Biological,Marker, Clinical,Marker, Immunologic,Marker, Laboratory,Marker, Serum,Marker, Surrogate,Serum Marker,Surrogate End Point,Surrogate End Points,Surrogate Endpoint,Surrogate Endpoints,Surrogate Marker,Viral Marker,Biological Marker,End Point, Surrogate,End Points, Surrogate,Endpoint, Surrogate,Endpoints, Surrogate,Marker, Biologic,Marker, Immune,Marker, Viral,Markers, Biologic,Markers, Immune
D058068 Endophenotypes Measurable biological (physiological, biochemical, and anatomical features), behavioral (psychometric pattern) or cognitive markers that are found more often in individuals with a disease than in the general population. Because many endophenotypes are present before the disease onset and in individuals with heritable risk for disease such as unaffected family members, they can be used to help diagnose and search for causative genes. Endophenotype

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