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Intermediate phenotype

MedGen UID:
468402
•Concept ID:
CN118023
•
Disease or Syndrome

Term Hierarchy

Professional guidelines

PubMed

Impaired inhibition as an intermediate phenotype for PTSD risk and treatment response.
van Rooij SJH, Jovanovic T
Prog Neuropsychopharmacol Biol Psychiatry 2019 Mar 8;89:435-445. Epub 2018 Oct 28 doi: 10.1016/j.pnpbp.2018.10.014. PMID: 30381236Free PMC Article
Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly.
Braun DA, Rao J, Mollet G, Schapiro D, Daugeron MC, Tan W, Gribouval O, Boyer O, Revy P, Jobst-Schwan T, Schmidt JM, Lawson JA, Schanze D, Ashraf S, Ullmann JFP, Hoogstraten CA, Boddaert N, Collinet B, Martin G, Liger D, Lovric S, Furlano M, Guerrera IC, Sanchez-Ferras O, Hu JF, Boschat AC, Sanquer S, Menten B, Vergult S, De Rocker N, Airik M, Hermle T, Shril S, Widmeier E, Gee HY, Choi WI, Sadowski CE, Pabst WL, Warejko JK, Daga A, Basta T, Matejas V, Scharmann K, Kienast SD, Behnam B, Beeson B, Begtrup A, Bruce M, Ch'ng GS, Lin SP, Chang JH, Chen CH, Cho MT, Gaffney PM, Gipson PE, Hsu CH, Kari JA, Ke YY, Kiraly-Borri C, Lai WM, Lemyre E, Littlejohn RO, Masri A, Moghtaderi M, Nakamura K, Ozaltin F, Praet M, Prasad C, Prytula A, Roeder ER, Rump P, Schnur RE, Shiihara T, Sinha MD, Soliman NA, Soulami K, Sweetser DA, Tsai WH, Tsai JD, Topaloglu R, Vester U, Viskochil DH, Vatanavicharn N, Waxler JL, Wierenga KJ, Wolf MTF, Wong SN, Leidel SA, Truglio G, Dedon PC, Poduri A, Mane S, Lifton RP, Bouchard M, Kannu P, Chitayat D, Magen D, Callewaert B, van Tilbeurgh H, Zenker M, Antignac C, Hildebrandt F
Nat Genet 2017 Oct;49(10):1529-1538. Epub 2017 Aug 14 doi: 10.1038/ng.3933. PMID: 28805828Free PMC Article
Intermediate phenotypes and biomarkers of treatment outcome in major depressive disorder.
Leuchter AF, Hunter AM, Krantz DE, Cook IA
Dialogues Clin Neurosci 2014 Dec;16(4):525-37. doi: 10.31887/DCNS.2014.16.4/aleuchter. PMID: 25733956Free PMC Article

Recent clinical studies

Etiology

Large scale plasma proteomics identifies novel proteins and protein networks associated with heart failure development.
Shah AM, Myhre PL, Arthur V, Dorbala P, Rasheed H, Buckley LF, Claggett B, Liu G, Ma J, Nguyen NQ, Matsushita K, Ndumele C, Tin A, Hveem K, Jonasson C, Dalen H, Boerwinkle E, Hoogeveen RC, Ballantyne C, Coresh J, Omland T, Yu B
Nat Commun 2024 Jan 15;15(1):528. doi: 10.1038/s41467-023-44680-3. PMID: 38225249Free PMC Article
Advances in integrative African genomics.
Zhang C, Hansen MEB, Tishkoff SA
Trends Genet 2022 Feb;38(2):152-168. Epub 2021 Nov 2 doi: 10.1016/j.tig.2021.09.013. PMID: 34740451Free PMC Article
Cognitive intermediate phenotype and genetic risk for psychosis.
Mark W, Toulopoulou T
Curr Opin Neurobiol 2016 Feb;36:23-30. Epub 2015 Sep 9 doi: 10.1016/j.conb.2015.08.008. PMID: 26363129
Genetics.
Domschke K, Deckert J
Curr Top Behav Neurosci 2010;2:63-75. PMID: 21309106
Mammographic breast density as an intermediate phenotype for breast cancer.
Boyd NF, Rommens JM, Vogt K, Lee V, Hopper JL, Yaffe MJ, Paterson AD
Lancet Oncol 2005 Oct;6(10):798-808. doi: 10.1016/S1470-2045(05)70390-9. PMID: 16198986

Diagnosis

Toward actionable neural markers of depression risk?
Pizzagalli DA
Trends Neurosci 2024 Nov;47(11):851-852. Epub 2024 Sep 27 doi: 10.1016/j.tins.2024.09.007. PMID: 39341730Free PMC Article
Difficulties maintaining prolonged fixation and attention-deficit/hyperactivity symptoms share genetic influences in childhood.
Falck-Ytter T, Pettersson E, Bölte S, D'Onofrio B, Lichtenstein P, Kennedy DP
Psychiatry Res 2020 Nov;293:113384. Epub 2020 Aug 18 doi: 10.1016/j.psychres.2020.113384. PMID: 32823201
Genetics of Human Primary Hypertension: Focus on Hormonal Mechanisms.
Manosroi W, Williams GH
Endocr Rev 2019 Jun 1;40(3):825-856. doi: 10.1210/er.2018-00071. PMID: 30590482Free PMC Article
Metabolomics and atherosclerosis.
Goonewardena SN, Prevette LE, Desai AA
Curr Atheroscler Rep 2010 Jul;12(4):267-72. doi: 10.1007/s11883-010-0112-9. PMID: 20464531Free PMC Article
Intermediate phenotypes and genetic mechanisms of psychiatric disorders.
Meyer-Lindenberg A, Weinberger DR
Nat Rev Neurosci 2006 Oct;7(10):818-27. doi: 10.1038/nrn1993. PMID: 16988657

Therapy

Unveiling Promising Neuroimaging Biomarkers for Schizophrenia Through Clinical and Genetic Perspectives.
Guo J, He C, Song H, Gao H, Yao S, Dong SS, Yang TL
Neurosci Bull 2024 Sep;40(9):1333-1352. Epub 2024 May 4 doi: 10.1007/s12264-024-01214-1. PMID: 38703276Free PMC Article
Large scale plasma proteomics identifies novel proteins and protein networks associated with heart failure development.
Shah AM, Myhre PL, Arthur V, Dorbala P, Rasheed H, Buckley LF, Claggett B, Liu G, Ma J, Nguyen NQ, Matsushita K, Ndumele C, Tin A, Hveem K, Jonasson C, Dalen H, Boerwinkle E, Hoogeveen RC, Ballantyne C, Coresh J, Omland T, Yu B
Nat Commun 2024 Jan 15;15(1):528. doi: 10.1038/s41467-023-44680-3. PMID: 38225249Free PMC Article
On the choice of parameterisation and priors for the Bayesian analyses of Mendelian randomisation studies.
Jones EM, Thompson JR, Didelez V, Sheehan NA
Stat Med 2012 Jun 30;31(14):1483-501. Epub 2012 Mar 13 doi: 10.1002/sim.4499. PMID: 22415699
X-inactivation patterns in carriers of X-linked myotubular myopathy.
Kristiansen M, Knudsen GP, Tanner SM, McEntagart M, Jungbluth H, Muntoni F, Sewry C, Gallati S, Ørstavik KH, Wallgren-Pettersson C
Neuromuscul Disord 2003 Aug;13(6):468-71. doi: 10.1016/s0960-8966(03)00067-1. PMID: 12899873
The visual backward masking deficit in schizophrenia.
McClure RK
Prog Neuropsychopharmacol Biol Psychiatry 2001 Feb;25(2):301-11. doi: 10.1016/s0278-5846(00)00166-4. PMID: 11294477

Prognosis

Integrative multiomics analysis identifies molecular subtypes and potential targets of hepatocellular carcinoma.
Yang S, Zheng L, Li L, Zhang J, Wang J, Zhao H, Chen Y, Liu X, Gan H, Chen J, Yan M, He C, Li K, Ding C, Li Y
Clin Transl Med 2024 Jun;14(6):e1727. doi: 10.1002/ctm2.1727. PMID: 38804617Free PMC Article
The overlap between anxiety, depression, and obsessive-compulsive disorder.
Goodwin GM
Dialogues Clin Neurosci 2015 Sep;17(3):249-60. doi: 10.31887/DCNS.2015.17.3/ggoodwin. PMID: 26487806Free PMC Article
NOS1 ex1f-VNTR polymorphism affects prefrontal oxygenation during response inhibition tasks.
Kopf J, Schecklmann M, Hahn T, Dieler AC, Herrmann MJ, Fallgatter AJ, Reif A
Hum Brain Mapp 2012 Nov;33(11):2561-71. Epub 2011 Sep 16 doi: 10.1002/hbm.21382. PMID: 21922604Free PMC Article
The changing impact of genes and environment on brain development during childhood and adolescence: initial findings from a neuroimaging study of pediatric twins.
Lenroot RK, Giedd JN
Dev Psychopathol 2008 Fall;20(4):1161-75. doi: 10.1017/S0954579408000552. PMID: 18838036Free PMC Article
Prefrontal broadband noise, working memory, and genetic risk for schizophrenia.
Winterer G, Coppola R, Goldberg TE, Egan MF, Jones DW, Sanchez CE, Weinberger DR
Am J Psychiatry 2004 Mar;161(3):490-500. doi: 10.1176/appi.ajp.161.3.490. PMID: 14992975

Clinical prediction guides

Human airway mast cells proliferate and acquire distinct inflammation-driven phenotypes during type 2 inflammation.
Dwyer DF, Ordovas-Montanes J, Allon SJ, Buchheit KM, Vukovic M, Derakhshan T, Feng C, Lai J, Hughes TK, Nyquist SK, Giannetti MP, Berger B, Bhattacharyya N, Roditi RE, Katz HR, Nawijn MC, Berg M, van den Berge M, Laidlaw TM, Shalek AK, Barrett NA, Boyce JA
Sci Immunol 2021 Feb 26;6(56) doi: 10.1126/sciimmunol.abb7221. PMID: 33637594Free PMC Article
Cognitive intermediate phenotype and genetic risk for psychosis.
Mark W, Toulopoulou T
Curr Opin Neurobiol 2016 Feb;36:23-30. Epub 2015 Sep 9 doi: 10.1016/j.conb.2015.08.008. PMID: 26363129
Genetics of emotional reactivity in bipolar disorders.
Mathieu F, Etain B, Dizier MH, Lajnef M, Lathrop M, Cabon C, Leboyer M, Henry C, Bellivier F
J Affect Disord 2015 Dec 1;188:101-6. Epub 2015 Sep 3 doi: 10.1016/j.jad.2015.08.037. PMID: 26349599
Disc degeneration-related clinical phenotypes.
Battié MC, Lazáry A, Fairbank J, Eisenstein S, Heywood C, Brayda-Bruno M, Varga PP, McCall I
Eur Spine J 2014 Jun;23 Suppl 3:S305-14. Epub 2013 Jul 25 doi: 10.1007/s00586-013-2903-5. PMID: 23884550
The visual backward masking deficit in schizophrenia.
McClure RK
Prog Neuropsychopharmacol Biol Psychiatry 2001 Feb;25(2):301-11. doi: 10.1016/s0278-5846(00)00166-4. PMID: 11294477

Recent systematic reviews

Mutational spectrum of GNAL, THAP1 and TOR1A genes in isolated dystonia: study in a population from Spain and systematic literature review.
Gómez-Garre P, Jesús S, Periñán MT, Adarmes A, Alonso-Canovas A, Blanco-Ollero A, Buiza-Rueda D, Carrillo F, Catalán-Alonso MJ, Del Val J, Escamilla-Sevilla F, Espinosa-Rosso R, Fernández-Moreno MC, García-Moreno JM, García-Ruiz PJ, Giacometti-Silveira S, Gutiérrez-García J, López-Valdés E, Macías-García D, Martínez-Castrillo JC, Martínez-Torres I, Medialdea-Natera MP, Mínguez-Castellanos A, Moya MÁ, Ochoa-Sepulveda JJ, Ojea T, Rodríguez N, Sillero-Sánchez M, Tejera-Parrado C, Mir P
Eur J Neurol 2021 Apr;28(4):1188-1197. Epub 2020 Dec 6 doi: 10.1111/ene.14638. PMID: 33175450
Neural signatures of the risk for bipolar disorder: A meta-analysis of structural and functional neuroimaging studies.
Cattarinussi G, Di Giorgio A, Wolf RC, Balestrieri M, Sambataro F
Bipolar Disord 2019 May;21(3):215-227. Epub 2018 Dec 14 doi: 10.1111/bdi.12720. PMID: 30444299
Motor dysfunction as research domain in the period preceding manifest schizophrenia: A systematic review.
Hirjak D, Meyer-Lindenberg A, Kubera KM, Thomann PA, Wolf RC
Neurosci Biobehav Rev 2018 Apr;87:87-105. Epub 2018 Feb 20 doi: 10.1016/j.neubiorev.2018.01.011. PMID: 29410313
Genetic effects on carotid intima-media thickness: systematic assessment and meta-analyses of candidate gene polymorphisms studied in more than 5000 subjects.
Paternoster L, Martinez-Gonzalez NA, Charleton R, Chung M, Lewis S, Sudlow CL
Circ Cardiovasc Genet 2010 Feb;3(1):15-21. Epub 2009 Dec 11 doi: 10.1161/CIRCGENETICS.108.834366. PMID: 20160191
Association between apolipoprotein E genotype and carotid intima-media thickness may suggest a specific effect on large artery atherothrombotic stroke.
Paternoster L, Martínez González NA, Lewis S, Sudlow C
Stroke 2008 Jan;39(1):48-54. Epub 2007 Dec 6 doi: 10.1161/STROKEAHA.107.488866. PMID: 18063831Free PMC Article

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