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Concept in genetic epidemiology
In genetic epidemiology, endophenotype (or intermediate phenotype) is a term used to separate behavioral symptoms into more stable phenotypes with a clear
Endophenotype
Inability to feel pleasure
abnormalities as a composite/multivariate endophenotype for schizophrenia: a dense array EEG study: Multivariate endophenotype: schizophrenia". Early Intervention
Anhedonia
Neurodevelopmental disorder involving motor and vocal tics
"Tourettic OCD: Current understanding and treatment challenges of a unique endophenotype". Front Psychiatry. 13 929526. doi:10.3389/fpsyt.2022.929526. PMC 9363583
Tourette_syndrome
Research tools for understanding depressive symptoms in non-human animals
valid animal models include face, construct, and predictive validity. Endophenotypes, such as anhedonia, behavioral despair, changes in appetite, neuroanatomical
Animal_models_of_depression
Neurodevelopmental disorder
PMID 29220204. Kebir O, Joober R (December 2011). "Neuropsychological endophenotypes in attention-deficit/hyperactivity disorder: a review of genetic association
Attention deficit hyperactivity disorder
Attention_deficit_hyperactivity_disorder
Mental disorder associated with trauma
factors and stress-related pathology: neuroplasticity, epigenetics and endophenotypes". Stress. 14 (5): 481–97. doi:10.3109/10253890.2011.604751. PMC 3641164
Post-traumatic stress disorder
Post-traumatic_stress_disorder
Disorder of depression and mood episodes
with the manic phase of BD" and that "HPA axis dysregulation is not an endophenotype of BD, but seems related to environmental risk factors, such as childhood
Bipolar_disorder
Mid-latency auditory event-related potential
(higher P50 ratios) is one of several proposed electrophysiological endophenotypes. P50 gating has also been examined in a range of other psychiatric and
P50_(neuroscience)
Part of the genetic makeup of a cell which determines one of its characteristics
{\textstyle a} . The following table details the different encoding. Endophenotype Nucleic acid sequence Sequence (biology) "What is genotype? What is
Genotype
Composite of the organism's observable characteristics or traits
molecule would have been the original genotype. Bioinformatics Ecotype Endophenotype Genotype–phenotype distinction Molecular phenotyping Phenomics Phenotypic
Phenotype
Branch of medicine devoted to mental disorders
Hensch T, Herold U, Brocke B (August 2007). "An electrophysiological endophenotype of hypomanic and hyperthymic personality". Journal of Affective Disorders
Psychiatry
Eating disorder
proposed that conditions on the autism spectrum make up the cognitive endophenotype underlying anorexia nervosa and appealed for increased interdisciplinary
Anorexia_nervosa
Intentional end of an animal's own life
modeled independently in animals. They have also been used to model endophenotypes that are associated with suicide. These animal models allow scientists
Animal_suicide
Disorder resulting in compulsive behaviors
as cell adhesion are commonly identified. The important effects of endophenotypes are typically not capable of being captured by these methods. Genes
Addiction
Mental disorder involving eccentricity and social isolation in afflicted individuals
bbr.2014.07.041. PMID 25125238. S2CID 18041054. Siever LJ (2005). "Endophenotypes in the personality disorders". Dialogues in Clinical Neuroscience. 7
Schizotypal personality disorder
Schizotypal_personality_disorder
Psychiatric disorder defined by chronic depression
retrieved 24 March 2025 Niculescu, A.B.; Akiskal, H.S. (2001). "Proposed Endophenotypes of Dysthymia: Evolutionary, Clinical, and Pharmacogenomic Considerations"
Dysthymia
Mental disorder
distinct etiologies and pathogenesis. Laboratory studies of putative endophenotypes, brain imaging studies, and post mortem studies shed little additional
Schizoaffective_disorder
reproducible masking deficits, thus masking deficits have been suggested as an endophenotype for schizophrenia. In the early stages of the disease, and in untreated
Visual processing abnormalities in schizophrenia
Visual_processing_abnormalities_in_schizophrenia
Tendency to act on a whim without considering consequences
environmental factors contributing to ADHD are relatively unknown, but endophenotypes offer a potential middle ground between genes and symptoms. ADHD is
Impulsivity
Blood treatment used in kidney failure
to patients' unmet clinical needs. The opportunity to evaluate the endophenotype of the patient makes it possible to adjust treatments and techniques
Renal_replacement_therapy
Mental illness characterized by abnormal eating habits
different criterion of both anorexia nervosa and bulimia nervosa as endophenotypes contributing to the disorders as a whole. An individual who is a first
Eating_disorder
Risk factors related to schizophrenia
activity in Schizophrenia and genetic association with wchizophrenia endophenotypes". Arch Gen Psychiatry. 68 (7): 665–674. doi:10.1001/archgenpsychiatry
Risk_factors_of_schizophrenia
Biological processes that may contribute to autism
internationally with levels of consanguinity and it is thought to present its own endophenotype. Medical evidence has shown that autistic patients often present with
Mechanism_of_autism
Indicator of a biological state or condition
Biomarker discovery Biomarker Insights – a journal Biomarkers (journal) Endophenotype Imaging biomarker Marker gene Molecular marker Saliva testing Sponge
Biomarker
Acetylcholine receptors named for their selective binding of nicotine
seizures. Several studies have reported an association between CHRNA7 and endophenotypes of psychiatric disorders and nicotine dependence, contributing to the
Nicotinic acetylcholine receptor
Nicotinic_acetylcholine_receptor
Cognitive processes necessary for control of behavior
functions, with the goal of using the imaging techniques as potential endophenotypes for discovering the genetic causes of executive function. A 2025 research
Executive_functions
Organisms used to study biology across species
depression in patients. Depression, as other mental disorders, consists of endophenotypes that can be reproduced independently and evaluated in animals. An ideal
Model_organism
Influence of a single gene on multiple phenotypic traits
traits with genetic variants: polygenic risk scores, pleiotropy and endophenotypes". Genetica. 150 (3): 183–197. doi:10.1007/s10709-021-00138-2. ISSN 1573-6857
Pleiotropy
Psychological model
status. These types of analysis can include a range of data, including endophenotypes or other genetic or biological markers which increases their utility
Dimensional models of personality disorders
Dimensional_models_of_personality_disorders
Study of genetic-environment interactions influencing behaviour
substance use, personality, fertility, schizophrenia, depression, and endophenotypes including brain structure and function. There are a small handful of
Behavioural_genetics
Nucleus in the basal ganglia of the brain
"Probing Compulsive and Impulsive Behaviors, from Animal Models to Endophenotypes: A Narrative Review". Neuropsychopharmacology. 35 (3): 591–604. doi:10
Striatum
Enzyme
Activity in Schizophrenia and Genetic Association With Schizophrenia Endophenotypes". Arch Gen Psychiatry. 68 (7): 665–674. doi:10.1001/archgenpsychiatry
Kynurenine_3-monooxygenase
Animal that is used recurrently in research
needed] However, depression, as other mental disorders, consists of endophenotypes that can be reproduced independently and evaluated in animals. An ideal
Animal_disease_model
Protein-coding gene in the species Homo sapiens
polymorphisms in the dopamine D4 receptor gene and the activity-impulsivity endophenotype in dogs". Animal Genetics. 38 (6): 629–33. doi:10.1111/j.1365-2052.2007
Dopamine_receptor_D4
Individual's experience of drinking alcohol
consequences. There is also mounting evidence for consideration of SR as an endophenotype with some studies suggesting that it accounts for a significant proportion
Subjective response to alcohol
Subjective_response_to_alcohol
Protein-coding gene in the species Homo sapiens
Mießner H, Linhoff L, Brzózka MM, et al. (2021). "Hyperactivity is a Core Endophenotype of Elevated Neuregulin-1 Signaling in Embryonic Glutamatergic Networks"
Neuregulin_1
these so-called deficits in cognitive ability are of the cognitive endophenotypes (i.e., relatives) of ASD. Given these findings, it would appear that
Autism_and_memory
Medical procedure
to patients’ unmet clinical needs. The opportunity to evaluate the endophenotype of the patient makes it possible to adjust treatments and techniques
Hemofiltration
Region of the prefrontal cortex of the brain
"Probing compulsive and impulsive behaviors, from animal models to endophenotypes: a narrative review". Neuropsychopharmacology. 35 (3): 591–604. doi:10
Orbitofrontal_cortex
authors to suggest that dynamics of microstates C and D are a candidate endophenotype for schizophrenia. In July 2011, Dr. Koenig collaborated with researchers
EEG_microstates
Research field focused on role of genetics in development of mental disorders
clinical syndrome. Several genetic risk factors have been found with the endophenotypes of psychiatric disorders, rather than with the diagnoses themselves
Psychiatric_genetics
consequences. There is also mounting evidence for consideration of SR as an endophenotype with some studies suggesting that it accounts for a significant proportion
Short-term effects of alcohol consumption
Short-term_effects_of_alcohol_consumption
Concept of personality states ranging from imaginative to psychotic
(September 2008). "Temperament and character as schizophrenia-related endophenotypes in non-psychotic siblings". Schizophrenia Research. 104 (1–3): 198–205
Schizotypy
American clinical psychologist
Award to "establish a reward-related behavioral and neurobiological endophenotype for Major Depressive Disorder in children or adolescents and clarify
Carla_Sharp
Bolivian American neuroscientist
Neuroscience of attention-deficit/hyperactivity disorder: the search for endophenotypes. Nat Rev Neurosci. 2002 Aug;3(8):617-28. Margulies DS, Kelly AMC, Uddin
Francisco_Xavier_Castellanos
Discipline of psychiatry based on evolutionary biology
1093/schbul/sbm130. PMC 2632450. PMID 18033774. Panksepp J (July 2006). "Emotional endophenotypes in evolutionary psychiatry". Progress in Neuro-Psychopharmacology &
Evolutionary_psychiatry
American psychologist
PMID 17115815. Beauchaine, T. P., & Constantino, J. N. (2017). Redefining the endophenotype concept to accommodate transdiagnostic vulnerabilities and etiological
Theodore_Beauchaine
Diathesis-stress model Vantage sensitivity Environmental sensitivity Endophenotype Gene-environment interaction Gene-environment correlation Genotype Highly
Differential_susceptibility
Worldwide incidence of suicide
social interaction, and aggressive behavior which can be considered endophenotypes for suicidal behavior. There is significant variation in suicide risk
Epidemiology_of_suicide
American neuroscientist (1935–2006)
strong emphasis on novel approaches such as using brain oscillations as endophenotypes, COGA has successfully identified several genes involved in the predisposition
Henri_Begleiter
Electrical activity in the brain
"The error-related negativity (ERN) and psychopathology: toward an endophenotype". Clinical Psychology Review. 28 (8): 1343–54. doi:10.1016/j.cpr.2008
Error-related_negativity
American physician (1954–2015)
; Bradstreet, J. J.; Baker, S. M.; Gaylor, D. W. (2006). "Metabolic endophenotype and related genotypes are associated with oxidative stress in children
Jeff_Bradstreet
British neuroscientist
compulsive cocaine seeking, leading to the characterisation of an addiction endophenotype. His discovery that addictive drug memories, potent precipitants of
Barry_Everitt_(scientist)
American psychiatrist, developmental neuroscientist
along with Myrna Weissman and colleagues, identified a brain-based endophenotype for major depressive disorder (MDD), characterized by cortical thinning
Bradley_Peterson
Type of eye movement used for closely following a moving object
tracking Frontal eye fields Microsaccade Saccade Superior colliculus Endophenotype Grasse, K. L; Lisberger, S. G (1992). "Analysis of a naturally occurring
Smooth_pursuit
Clinical proteomics Drug discovery Genomics Proteomics Secretomics Endophenotype Massive parallel sequencing Hathout, Yetrib (2007). "Approaches to the
Biomarker_discovery
Biological study Of bipolar disorder
of Neuropsychiatric Biomarkers, Endophenotypes and Genes: Volume II: Neuroanatomical and Neuroimaging Endophenotypes and Biomarkers. Springer. Phillips
Biology_of_bipolar_disorder
Psychology research paradigm
neuronal generator patterns in continuous recognition memory, and the endophenotypes, which provide model on genetic relation of psychiatric diseases that
Oddball_paradigm
Neurological phenomenon
cognitive fragmentation. This makes disrupted PPI potentially useful as an endophenotype in the diagnosis of schizophrenia. Antipsychotic medication have been
Prepulse_inhibition
Large secreted extracellular matrix glycoprotein involved in neuronal migration
Davis JM, Costa E (2006). "Reelin down-regulation in mice and psychosis endophenotypes". Neuroscience and Biobehavioral Reviews. 30 (8): 1065–77. doi:10.1016/j
Reelin
Chemical compound
Activity in Schizophrenia and Genetic Association with Schizophrenia Endophenotypes". Archives of General Psychiatry. 68 (7): 665–74. doi:10.1001/archgenpsychiatry
Kynurenine
Neuroscientist
to brain and neurodegenerative diseases. He is best known for using endophenotypes and biomarkers as quantitative traits for genetics studies, which led
Carlos_Cruchaga
endophenotype. The use of endophenotypes facilitates a more realistic dataset on gene-environment interactions influencing particular endophenotypes.
CARTaGENE_biobank
Etiology of psychopathology
pathways. Investigations increasingly focus on links between genes and endophenotypes because they are more specific traits. Some include neurophysiological
Causes_of_mental_disorders
Response to the same environmental variation differently by different genotypes
consistent with psychiatric disorders. As a result of the overlap of endophenotypes amongst disorders this suggests that the outcomes of gene–environment
Gene–environment_interaction
Area of the human brain
Ritsner (1 January 2009). The Handbook of Neuropsychiatric Biomarkers, Endophenotypes and Genes. Springer. pp. 101–. ISBN 978-1-4020-9831-4. Retrieved 4 January
Planum_temporale
Lin (2017-07-14). "Altered Brain Network Connectivity as a Potential Endophenotype of Schizophrenia". Scientific Reports. 7 (1): 5483. Bibcode:2017NatSR
Functional MRI methods and findings in schizophrenia
Functional_MRI_methods_and_findings_in_schizophrenia
American neurologist and clinical investigator
R. (2019). "Cerebral Microvascular Injury: A Potentially Treatable Endophenotype of Traumatic Brain Injury-Induced Neurodegeneration". Neuron (Review)
Ramon_Diaz-Arrastia
Phenomenon of visual perception
unaffected siblings, thus suggesting that the impairments might be an endophenotype for schizophrenia. Forward masking, on the other hand, is correlated
Visual_masking
American psychologist
2020-07-28. Olatunji, Olubunmi. "Disgust Learning as a Distinct OCD Endophenotype". {{cite journal}}: Cite journal requires |journal= (help) Blackford
Bunmi_Olatunji
Metabolic pathway that produces the NAD coenzyme
activity in schizophrenia and genetic association with schizophrenia endophenotypes". Archives of General Psychiatry. 68 (7): 665–674. doi:10.1001/archgenpsychiatry
Kynurenine_pathway
Assessment for brain damage
(2021-09-15). "Impulsive and Omission Errors: Potential Temporal Processing Endophenotypes in ADHD". Brain Sciences. 11 (9): 1218. doi:10.3390/brainsci11091218
Test of Variables of Attention
Test_of_Variables_of_Attention
Metric of clustering solutions quality
"Using machine learning to explore shared genetic pathways and possible endophenotypes in autism spectrum disorder", Genes, 14 (2): 313, doi:10.3390/genes14020313
Density-based clustering validation
Density-based_clustering_validation
Protein found in humans
subunit as a candidate gene for autism and bipolar disorder: a proposed endophenotype with parent-of-origin and gain-of-function features, with or without
GABRA5
Australian psychologist
she has focussed on animal models of schizophrenia using MMN as an endophenotype. She has also published extensively on auditory and visual selection
Pat_Michie
Proportion of variance that two traits share due to genetic causes
rarely be observed but another highly correlated measure, perhaps an endophenotype, is available in all individuals), compensating for different environments
Genetic_correlation
Indian biologist
for Plasmacytoid Dendritic Cell Activation in a Systemic Lupus Endophenotype". Journal of Immunology. 202 (6): 1674–1679. doi:10.4049/jimmunol.1801521
Dipyaman_Ganguly
Professor of Behavioral Medicine and Neuroscience
stress-induced hypoalgesia and exaggerated cardiovascular responses as endophenotypes for hypertension. He has served as the Principal Investigator and lab
Mustafa_al'Absi
Mechanisms of action
is an antagonist of NRG1-ERBB4 signaling and schizophrenia-relevant endophenotypes in mice". EMBO Mol Med. 9 (10): 1448–1462. doi:10.15252/emmm.201707691
Pharmacodynamics of spironolactone
Pharmacodynamics_of_spironolactone
German neuroscientist
Patrícia; Herzog, Michael H. (2020). "EEG microstates are a candidate endophenotype for schizophrenia". Nature Communications. 11 (1): 3089. Bibcode:2020NatCo
Michael Herzog (neuroscientist)
Michael_Herzog_(neuroscientist)
Israeli neuroscientist
models of obsessive–compulsive disorder: From bench to bedside via endophenotypes and biomarkers". In McArthur, Robert A.; Borsini, Franco (eds.). Animal
Daphna_Joel
Protein-coding gene in the species Homo sapiens
2007). "Fabp7 maps to a quantitative trait locus for a schizophrenia endophenotype". PLOS Biology. 5 (11): e297. doi:10.1371/journal.pbio.0050297. PMC 2071943
FABP7
Psychological training
"Neuroscience of attention-deficit/hyperactivity disorder: the search for endophenotypes". Nature Reviews. Neuroscience. 3 (8): 617–628. doi:10.1038/nrn896.
Working_memory_training
Protein-coding gene in humans
TJ, Bossé Y, Cole DE (2006). "G-protein-coupled receptors and asthma endophenotypes: the cysteinyl leukotriene system in perspective". Molecular Diagnosis
Cysteinyl leukotriene receptor 1
Cysteinyl_leukotriene_receptor_1
Psychiatric geneticist
of many small traits working together. These endophenotypes could be used for diagnosis. Endophenotypes have been interpreted as a link between genes
Irving_Gottesman
Form of dementia
"Association between WWOX/MAF variants and dementia-related neuropathologic endophenotypes". Neurobiology of Aging. 111: 95–106. doi:10.1016/j.neurobiolaging.2021
Limbic-predominant age-related TDP-43 encephalopathy
Limbic-predominant_age-related_TDP-43_encephalopathy
German neurologist
flow cytometry and serum proteomics to identify distinct immunological endophenotypes in early multiple sclerosis, advancing detailed patient stratification
Heinz_Wiendl
Taiwanese psychiatric geneticist (born 1931)
Tsuang's 1985 study. Also during the 1980s, Tsuang began researching endophenotypes. His and his colleagues' research on the neuropsychological dysfunction
Ming_T._Tsuang
Swiss neuroscientist, Professor of Psychiatry at Harvard Medical School
prevention strategies. Pizzagalli's research is focused on three critical endophenotypes associated with depression: anhedonia, increased stress sensitivity
Diego_A._Pizzagalli
American geneticist
"the autisms." Geschwind pioneered the study of language and social endophenotypes in genetic studies and demonstrated how transcriptomic and epigenetic
Daniel_Geschwind
German scientist
schizophrenia: meta-analysis of heart rate variability as a potential endophenotype". The British Journal of Psychiatry: The Journal of Mental Science.
Julian Koenig (neuroscientist)
Julian_Koenig_(neuroscientist)
American child psychiatrist
"Deconstructing autism: from unitary syndrome to contributory developmental endophenotypes". International Review of Psychiatry. 30 (1): 18–24. doi:10.1080/09540261
John_Constantino
Protein-coding gene in the species Homo sapiens
(2008). "Association of RGS4 variants with schizotypy and cognitive endophenotypes at the population level". Behavioral and Brain Functions. 4: 46. doi:10
RGS4
Single nucleotide polymorphism in human HTR2A gene
polymorphism on phenotypes such as personality traits or disorders and their endophenotypes. The C-allele has been associated with higher extraversion personality
Rs6313
Protein-coding gene in the species Homo sapiens
TJ, Bossé Y, Cole DE (2006). "G-protein-coupled receptors and asthma endophenotypes: the cysteinyl leukotriene system in perspective". Molecular Diagnosis
Cysteinyl leukotriene receptor 2
Cysteinyl_leukotriene_receptor_2
American clinical psychologist and historian of medicine
program seeks to identify valid biomarkers that might serve as molecular endophenotypes of schizophrenia and become the basis of a valid biological diagnostic
Richard_Noll
Taiwanese pediatric psychiatrist (born 1962)
Shur-Fen; Chou, Tai-Li (2018-05-10). "Visual processing as a potential endophenotype in youths with attention-deficit/hyperactivity disorder: A sibling study
Susan_Shur-Fen_Gau
French neuroscientist
world. Their attempts to replicate several major candidate neuroimaging endophenotypes of ASD using this large dataset together with systematic meta-analysis
Roberto_Toro
Indian scientist
"objective parameters of modern medicine for identifying molecular endophenotypes." She states that she wants her research to be able to "contemporize
Mitali_Mukerji
American psychologist (born 1940)
gov/tcrb/monographs/20/m20_entire.pdf National Cancer Institute. Phenotypes and Endophenotypes: Foundations for Genetic Studies of Nicotine Use and Dependence. Tobacco
Ovide_F._Pomerleau
ENDOPHENOTYPE
ENDOPHENOTYPE
ENDOPHENOTYPE
ENDOPHENOTYPE
Surname or Lastname
English
English : probably a variant of Munden.
Biblical
dust; lead
Girl/Female
Greek Hebrew Swedish Scandinavian
Devoted to God.
Boy/Male
Arabic, Gujarati, Hindu, Indian, Kannada, Muslim
The Moon
Female
Finnish
Finnish form of Swedish Annika, ANNUKKA means "favor; grace."
Boy/Male
Indian
Judge
Boy/Male
Greek
Father of Scylla.
Boy/Male
Hindu
Boy/Male
Hindu
Girl/Female
Hindu, Indian
Good
ENDOPHENOTYPE
ENDOPHENOTYPE
ENDOPHENOTYPE
ENDOPHENOTYPE
ENDOPHENOTYPE