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2. Enrichment of cis-regulatory gene expression SNPs and methylation quantitative trait loci among bipolar disorder susceptibility variants

Author

Gamazon, E R, Badner, J A, Cheng, L, Zhang, C, Zhang, D, Cox, N J, Gershon, E S, Kelsoe, J R, Greenwood, T A, Nievergelt, C M, Chen, C, McKinney, R, Shilling, P D, Schork, N J, Smith, E N, Bloss, C S, Nurnberger, J I, Edenberg, H J, Foroud, T, Koller, D L, Scheftner, W A, Coryell, W, Rice, J, Lawson, W B, Nwulia, E A, Hipolito, M, Byerley, W, McMahon, F J, Schulze, T G, Berrettini, W H, Potash, J B, Zandi, P P, Mahon, P B, McInnis, M G, Zöllner, S, Zhang, P, Craig, D W, Szelinger, S, Barrett, T B, and Liu, C

Published
2013
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4. Genome-wide linkage analysis of 972 bipolar pedigrees using single-nucleotide polymorphisms

Author

Badner, J A, Koller, D, Foroud, T, Edenberg, H, Nurnberger, Jr, J I, Zandi, P P, Willour, V L, McMahon, F J, Potash, J B, Hamshere, M, Grozeva, D, Green, E, Kirov, G, Jones, I, Jones, L, Craddock, N, Morris, D, Segurado, R, Gill, M, Sadovnick, D, Remick, R, Keck, P, Kelsoe, J, Ayub, M, MacLean, A, Blackwood, D, Liu, C-Y, Gershon, E S, McMahon, W, Lyon, G J, Robinson, R, Ross, J, and Byerley, W

Published
2012
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6. A genome-wide association study of attempted suicide

Author

Willour, V L, Seifuddin, F, Mahon, P B, Jancic, D, Pirooznia, M, Steele, J, Schweizer, B, Goes, F S, Mondimore, F M, MacKinnon, D F, Perlis, R H, Lee, P H, Huang, J, Kelsoe, J R, Shilling, P D, Rietschel, M, Nöthen, M, Cichon, S, Gurling, H, Purcell, S, Smoller, J W, Craddock, N, DePaulo, Jr, J R, Schulze, T G, McMahon, F J, Zandi, P P, and Potash, J B

Published
2012
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8. Genome-wide association study of bipolar disorder in European American and African American individuals

Author

Smith, E N, Bloss, C S, Badner, J A, Barrett, T, Belmonte, P L, Berrettini, W, Byerley, W, Coryell, W, Craig, D, Edenberg, H J, Eskin, E, Foroud, T, Gershon, E, Greenwood, T A, Hipolito, M, Koller, D L, Lawson, W B, Liu, C, Lohoff, F, McInnis, M G, McMahon, F J, Mirel, D B, Murray, S S, Nievergelt, C, Nurnberger, J, Nwulia, E A, Paschall, J, Potash, J B, Rice, J, Schulze, T G, Scheftner, W, Panganiban, C, Zaitlen, N, Zandi, P P, Zöllner, S, Schork, N J, and Kelsoe, J R

Published
2009
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16. Genome-wide scan of bipolar disorder in 65 pedigrees: supportive evidence for linkage at 8q24, 18q22, 4q32, 2p12, and 13q12

Author

McInnis, M G, Lan, T-H, Willour, V L, McMahon, F J, Simpson, S G, Addington, A M, MacKinnon, D F, Potash, J B, Mahoney, A T, Chellis, J, Huo, Y, Swift-Scanlan, T, Chen, H, Koskela, R, Colin Stine, O, Jamison, K R, Holmans, P, Folstein, S E, Ranade, K, Friddle, C, Botstein, D, Marr, T, Beaty, T H, Zandi, P, and Raymond DePaulo, J

Published
2003
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31. Genetic influences on schizophrenia and subcortical brain volumes:large-scale proof of concept

Author

Franke, B. (Barbara), Stein, J. L. (Jason L.), Ripke, S. (Stephan), Anttila, V. (Verneri), Hibar, D. P. (Derrek P.), Hulzen, K. J. (Kimm J. E.), Arias-Vasquez, A. (Alejandro), Smoller, J. W. (Jordan W.), Nichols, T. E. (Thomas E.), Neale, M. C. (Michael C.), McIntosh, A. M. (Andrew M.), Lee, P. (Phil), McMahon, F. J. (Francis J.), Meyer-Lindenberg, A. (Andreas), Mattheisen, M. (Manuel), Andreassen, O. A. (Ole A.), Gruber, O. (Oliver), Sachdev, P. S. (Perminder S.), Roiz-Santiañez, R. (Roberto), Saykin, A. J. (Andrew J.), Ehrlich, S. (Stefan), Mather, K. A. (Karen A.), Turner, J. A. (Jessica A.), Schwarz, E. (Emanuel), Thalamuthu, A. (Anbupalam), Yao, Y. (Yin), Ho, Y. Y. (Yvonne Y. W.), Martin, N. G. (Nicholas G.), Wright, M. J. (Margaret J.), O'Donovan, M. C. (Michael C.), Thompson, P. M. (Paul M.), Neale, B. M. (Benjamin M.), Medland, S. E. (Sarah E.), Sullivan, P. F. (Patrick F.), Franke, B. (Barbara), Stein, J. L. (Jason L.), Ripke, S. (Stephan), Anttila, V. (Verneri), Hibar, D. P. (Derrek P.), Hulzen, K. J. (Kimm J. E.), Arias-Vasquez, A. (Alejandro), Smoller, J. W. (Jordan W.), Nichols, T. E. (Thomas E.), Neale, M. C. (Michael C.), McIntosh, A. M. (Andrew M.), Lee, P. (Phil), McMahon, F. J. (Francis J.), Meyer-Lindenberg, A. (Andreas), Mattheisen, M. (Manuel), Andreassen, O. A. (Ole A.), Gruber, O. (Oliver), Sachdev, P. S. (Perminder S.), Roiz-Santiañez, R. (Roberto), Saykin, A. J. (Andrew J.), Ehrlich, S. (Stefan), Mather, K. A. (Karen A.), Turner, J. A. (Jessica A.), Schwarz, E. (Emanuel), Thalamuthu, A. (Anbupalam), Yao, Y. (Yin), Ho, Y. Y. (Yvonne Y. W.), Martin, N. G. (Nicholas G.), Wright, M. J. (Margaret J.), O'Donovan, M. C. (Michael C.), Thompson, P. M. (Paul M.), Neale, B. M. (Benjamin M.), Medland, S. E. (Sarah E.), and Sullivan, P. F. (Patrick F.)

Abstract

Schizophrenia is a devastating psychiatric illness with high heritability. Brain structure and function differ, on average, between people with schizophrenia and healthy individuals. As common genetic associations are emerging for both schizophrenia and brain imaging phenotypes, we can now use genome-wide data to investigate genetic overlap. Here we integrated results from common variant studies of schizophrenia (33,636 cases, 43,008 controls) and volumes of several (mainly subcortical) brain structures (11,840 subjects). We did not find evidence of genetic overlap between schizophrenia risk and subcortical volume measures either at the level of common variant genetic architecture or for single genetic markers. These results provide a proof of concept (albeit based on a limited set of structural brain measures) and define a roadmap for future studies investigating the genetic covariance between structural or functional brain phenotypes and risk for psychiatric disorders.

Published
2017

32. Circadian genes and lithium response in bipolar disorders: associations with PPARGC1A (PGC-1 α ) and RORA

Author

GEOFFROY, P. A., Etain, B., Lajnef, M., Zerdazi, E. H., Brichant-Petitjean, C., Degenhardt, F., McMahon, F. J., Bellivier, F., Heilbronner, U., Hou, L., Rietschel, M., Schulze, T. G., Jamain, S., Marie-Claire, Cynthia, Variabilité de réponse aux Psychotropes (VariaPsy - U1144), Université Paris Diderot - Paris 7 (UPD7)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Université Paris Descartes - Paris 5 (UPD5), Université Paris Diderot - Paris 7 (UPD7), Université Sorbonne Paris Cité (USPC), Groupe Hospitalier Saint Louis - Lariboisière - Fernand Widal [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Fondation FondaMental [Créteil], Institut Mondor de Recherche Biomédicale (IMRB), Institut National de la Santé et de la Recherche Médicale (INSERM)-IFR10-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Pôle de Psychiatrie [Hôpital Henri Mondor], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital H. Mondor - A. Chenevier, University of Bonn, Johns Hopkins University School of Medicine [Baltimore], Institut de Chimie des Milieux et Matériaux de Poitiers (IC2MP), Université de Poitiers-Institut national des sciences de l'Univers (INSU - CNRS)-Institut de Chimie du CNRS (INC)-Centre National de la Recherche Scientifique (CNRS), Institute of Psychiatric Phenomics and Genomics (IPPG), Ludwig-Maximilians-Universität München (LMU), Department of Genetic Epidemiology in Psychiatry [Mannhein], Universität Heidelberg [Heidelberg]-Central Institute of Mental Health Mannheim, Department of Psychiatry and Psychotherapy, Georg-August-University [Göttingen], Université Paris-Est Créteil Val-de-Marne - Faculté de médecine (UPEC Médecine), Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Georg-August-University = Georg-August-Universität Göttingen, Optimisation Thérapeutique en Neuropsychopharmacologie (VariaPsy - U1144), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Diderot - Paris 7 (UPD7), Assistance publique - Hôpitaux de Paris (AP-HP) (APHP), Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Hôpital H. Mondor - A. Chenevier, Université de Poitiers-Centre National de la Recherche Scientifique (CNRS), and Centre for Environmental Research

Subjects
Adult, Male, MESH: Nuclear Receptor Subfamily 1, Group F, Member 1, Bipolar disorder, MESH: Heat-Shock Proteins, MESH: Lithium Compounds, Polymorphism, Single Nucleotide, MESH: Bipolar Disorder, [SDV.BBM.GTP]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN], clock genes, Humans, Genetic Predisposition to Disease, MESH: Circadian Rhythm, Genetic Association Studies, Heat-Shock Proteins, MESH: Peroxisome Proliferator-Activated Receptor Gamma Coactivator 1-alpha, MESH: Genetic Association Studies, MESH: Humans, MESH: Middle Aged, lithium carbonate, MESH: Polymorphism, Single Nucleotide, MESH: Genetic Predisposition to Disease, Nuclear Receptor Subfamily 1, Group F, Member 1, MESH: Adult, MESH: Transcription Factors, Middle Aged, Peroxisome Proliferator-Activated Receptor Gamma Coactivator 1-alpha, MESH: Male, Circadian Rhythm, circadian rhythms, Lithium Compounds, Female, lithium salts, circadian genes, MESH: Female, Transcription Factors
Abstract

International audience; Preliminary studies suggest that lithium (Li) response might be associated with some circadian gene polymorphisms, we therefore performed a pharmacogenetic study on the core clock genes in two independent samples suffering from bipolar disorder (BD) and thoroughly characterized for their Li response. Two independent Caucasian samples (165 and 58 bipolar patients) treated with Li were selected from samples recruited in a French multicenter study and assessed for their Li response using the Alda scale. The two samples were genotyped using the Human660 (H660) and OmniExpress (OE) BeadChips and gene-based association analyses of 22 core clock genes were conducted. In the first sample (H660 chip), the RAR-related orphan receptor-a gene (RORA) and the Peroxisome Proliferator-Activated Receptor Gamma, Coactivator 1 Alpha gene (PPARGC1A or PGC-1α) were significantly associated with the Li response (empirical P-value = 0.0015 and 0.04, respectively), and remained significant only for RORA after Bonferroni correction. In the second sample (OE chip), PPARGC1A was significantly associated with the Li response (empirical P-value = 0.04), and did not remain significant after Bonferroni correction. PPARGC1A is a master regulator of mitochondrial function and a key component of the endogenous clock that stimulates the expression of Bmal1 and Rev-erb-alpha through coactivation of RORA. Although the observed associations deserve further replication and investigation, our results suggest genetic associations between Li response and these two close biological partners: PPARGC1A and RORA involved in circadian rhythms and bioenergetics processes in Li response.

Published
2016

35. Circadian genes and lithium response in bipolar disorders: associations with PPARGC1A (PGC-1α) and RORA

Author

Geoffroy, P. A., primary, Etain, B., additional, Lajnef, M., additional, Zerdazi, E-H., additional, Brichant-Petitjean, C., additional, Heilbronner, U., additional, Hou, L., additional, Degenhardt, F., additional, Rietschel, M., additional, McMahon, F. J., additional, Schulze, T. G., additional, Jamain, S., additional, Marie-Claire, C., additional, and Bellivier, F., additional

Published
2016
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36. Genome-wide significant association between a 'negative mood delusions' dimension in bipolar disorder and genetic variation on chromosome 3q26.1

Author

Meier, S., Mattheisen, M., Steffens, M., Schmael, C., McMahon, F. J., Study, Bipolar Disorder Genome, Nöthen, M. M., Cichon, S., Schulze, T. G., Rietschel, M., Kelsoe, John R, Greenwood, Tiffany A, Vassos, E., Nievergelt, Caroline M, Barrett, Thomas B, McKinney, Rebecca, Shilling, Paul D, Schork, Nicholas J, Smith, Erin N, Bloss, Cinnamon S, Nurnberger, John, Edenberg, Howard J, Foroud, Tatiana, Strohmaier, J., Koller, Daniel L, Gershon, Elliot S, Liu, Chun-Yu, Badner, Judith A, Scheftner, William, Lawson, William B, Nwulia, Evaristus A, Hipolito, Maria, Coryell, William, Rice, John, Treutlein, J., Byerley, William, McMahon, Francis, Chen, David T W, Schulze, Thomas G, Berrettini, Wade, Potash, James B, Zandi, Peter P, Mahon, Pamela B, McInnis, Melvin, Craig, David, Josef, F., Szelinger, Szabolcs, Breuer, R., Degenhardt, F., Mühleisen, T. W., and Müller-Myhsok, B.

Subjects
Adult, Male, medicine.medical_specialty, SLC2A2, Genome-wide association study, Delusions, genome-wide, 03 medical and health sciences, Cellular and Molecular Neuroscience, 0302 clinical medicine, medicine, Humans, Bipolar disorder, ddc:610, Allele, diagnosis [Bipolar Disorder], Psychiatry, psychology [Bipolar Disorder], Alleles, Biological Psychiatry, Genetic association, Glucose Transporter Type 2, bipolar disorder, factor dimensions, 1. No poverty, Case-control study, SLC2A2 protein, human, Odds ratio, Middle Aged, medicine.disease, 030227 psychiatry, Psychiatry and Mental health, Schizophrenia, Case-Control Studies, Behavioral medicine, genetics [Delusions], Female, Original Article, genetics [Glucose Transporter Type 2], subphenotype, Factor Analysis, Statistical, Psychology, genetics [Bipolar Disorder], 030217 neurology & neurosurgery, Genome-Wide Association Study, Clinical psychology
Abstract

Research suggests that clinical symptom dimensions may be more useful in delineating the genetics of bipolar disorder (BD) than standard diagnostic models. To date, no study has applied this concept to data from genome-wide association studies (GWAS). We performed a GWAS of factor dimensions in 927 clinically well-characterized BD patients of German ancestry. Rs9875793, which is located in an intergenic region of 3q26.1 and in the vicinity of the solute carrier family 2 (facilitated glucose transporter), member 2 gene (SLC2A2), was significantly associated with the factor analysis-derived dimension 'negative mood delusions' (n=927; P=4.65 × 10(-8), odds ratio (OR)=2.66). This dimension was comprised of the symptoms delusions of poverty, delusions of guilt and nihilistic delusions. In case-control analyses, significant association with the G allele of rs9875793 was only observed in the subgroup of BD patients who displayed symptoms of 'negative mood delusions' (allelic χ(2) model: P(G)=0.0001, OR=1.92; item present, n=89). Further support for the hypothesis that rs9875793 is associated with BD in patients displaying 'negative mood delusions' symptom, such as delusions of guilt, was obtained from an European American sample (GAIN/TGEN), which included 1247 BD patients and 1434 controls (P(EA)=0.028, OR=1.27).

Published
2012

37. Association Study of Phosphodiesterase Genes in the Sequenced Alternatives to Relieve Depression (STAR*D) Sample

Author

Cabanero, M., Laje, G., Detera-Wadleigh, S., and McMahon, F. J.

Subjects
Adult, Male, Psychiatric Status Rating Scales, Depressive Disorder, Adolescent, Phosphoric Diester Hydrolases, Middle Aged, Cyclic Nucleotide Phosphodiesterases, Type 1, Polymorphism, Single Nucleotide, Article, Haplotypes, 3',5'-Cyclic-AMP Phosphodiesterases, 3',5'-Cyclic-GMP Phosphodiesterases, Humans, Female, Genetic Predisposition to Disease, Aged
Abstract

A recent study has reported a significant association of variants in phosphodiesterase (PDE) genes with antidepressant treatment outcome in a Mexican American sample. We set out to investigate these findings in a large sample of patients from the Sequenced Treatment Alternatives to Relieve Depression (STAR*D) study. STAR*D is a longitudinal study of antidepressant outcome in depressed outpatients. We genotyped three single nucleotide polymorphisms (SNPs) in PDE11A (rs1880916), PDE1A (rs1549870), and PDE9A (rs729861) for replication and we also report three additional SNPs in PDE11A (rs3770016, rs4893975, rs6433687) that had been genotyped for a previous study. Single marker analysis of remission within the Hispanic subsamples (n=268) revealed no significant evidence of association with markers in PDE11A, PDE9A, or PDE1A. Additional analyses of remission within the total STAR*D sample (n=1914) were also largely negative, as were analyses utilizing a narrower definition of remission. Haplotype analyses were carried out with the four PDE11A SNPs we genotyped; these also failed to show significant evidence of association in the STAR*D sample. In conclusion, we could not reproduce the reported association between PDE genes and antidepressant outcome in a sample of participants comparable to that reported previously. We conclude that PDE11A, PDE9A, and PDE1A are unlikely to play an important role in antidepressant outcome in this sample.

Published
2009

39. Replication and meta-analysis of TMEM132D gene variants in panic disorder

Author

Erhardt, A, primary, Akula, N, additional, Schumacher, J, additional, Czamara, D, additional, Karbalai, N, additional, Müller-Myhsok, B, additional, Mors, O, additional, Borglum, A, additional, Kristensen, A S, additional, Woldbye, D P D, additional, Koefoed, P, additional, Eriksson, E, additional, Maron, E, additional, Metspalu, A, additional, Nurnberger, J, additional, Philibert, R A, additional, Kennedy, J, additional, Domschke, K, additional, Reif, A, additional, Deckert, J, additional, Otowa, T, additional, Kawamura, Y, additional, Kaiya, H, additional, Okazaki, Y, additional, Tanii, H, additional, Tokunaga, K, additional, Sasaki, T, additional, Ioannidis, J P A, additional, McMahon, F J, additional, and Binder, E B, additional

Published
2012
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40. Enrichment of cis-regulatory gene expression SNPs and methylation quantitative trait loci among bipolar disorder susceptibility variants

Author

Gamazon, E R, primary, Badner, J A, additional, Cheng, L, additional, Zhang, C, additional, Zhang, D, additional, Cox, N J, additional, Gershon, E S, additional, Kelsoe, J R, additional, Greenwood, T A, additional, Nievergelt, C M, additional, Chen, C, additional, McKinney, R, additional, Shilling, P D, additional, Schork, N J, additional, Smith, E N, additional, Bloss, C S, additional, Nurnberger, J I, additional, Edenberg, H J, additional, Foroud, T, additional, Koller, D L, additional, Scheftner, W A, additional, Coryell, W, additional, Rice, J, additional, Lawson, W B, additional, Nwulia, E A, additional, Hipolito, M, additional, Byerley, W, additional, McMahon, F J, additional, Schulze, T G, additional, Berrettini, W H, additional, Potash, J B, additional, Zandi, P P, additional, Mahon, P B, additional, McInnis, M G, additional, Zöllner, S, additional, Zhang, P, additional, Craig, D W, additional, Szelinger, S, additional, Barrett, T B, additional, and Liu, C, additional

Published
2012
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41. Genome-wide linkage analysis of 972 bipolar pedigrees using single-nucleotide polymorphisms

Author

Badner, J A, primary, Koller, D, additional, Foroud, T, additional, Edenberg, H, additional, Nurnberger, J I, additional, Zandi, P P, additional, Willour, V L, additional, McMahon, F J, additional, Potash, J B, additional, Hamshere, M, additional, Grozeva, D, additional, Green, E, additional, Kirov, G, additional, Jones, I, additional, Jones, L, additional, Craddock, N, additional, Morris, D, additional, Segurado, R, additional, Gill, M, additional, Sadovnick, D, additional, Remick, R, additional, Keck, P, additional, Kelsoe, J, additional, Ayub, M, additional, MacLean, A, additional, Blackwood, D, additional, Liu, C-Y, additional, Gershon, E S, additional, McMahon, W, additional, Lyon, G J, additional, Robinson, R, additional, Ross, J, additional, and Byerley, W, additional

Published
2011
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42. The genetics of panic disorder

Author

Schumacher, J., primary, Kristensen, A. S., additional, Wendland, J. R., additional, Nothen, M. M., additional, Mors, O., additional, and McMahon, F. J., additional

Published
2011
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44. Genome-wide significant association between a ‘negative mood delusions' dimension in bipolar disorder and genetic variation on chromosome 3q26.1

Author

Meier, S, Mattheisen, M, Vassos, E, Strohmaier, J, Treutlein, J, Josef, F, Breuer, R, Degenhardt, F, Mühleisen, T W, Müller-Myhsok, B, Steffens, M, Schmael, C, McMahon, F J, Kelsoe, John R, Greenwood, Tiffany A, Nievergelt, Caroline M, Barrett, Thomas B, McKinney, Rebecca, Shilling, Paul D, Schork, Nicholas J, Smith, Erin N, Bloss, Cinnamon S, Nurnberger, John, Edenberg, Howard J, Foroud, Tatiana, Koller, Daniel L, Gershon, Elliot S, Liu, Chun-Yu, Badner, Judith A, Scheftner, William, Lawson, William B, Nwulia, Evaristus A, Hipolito, Maria, Coryell, William, Rice, John, Byerley, William, McMahon, Francis, Chen, David TW, Schulze, Thomas G, Berrettini, Wade, Potash, James B, Zandi, Peter P, Mahon, Pamela B, McInnis, Melvin, Craig, David, Szelinger, Szabolcs, Nöthen, M M, Cichon, S, Schulze, T G, and Rietschel, M

Published
2012
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45. A functional alternative splicing mutation in human tryptophan hydroxylase-2

Author

Zhang, X, primary, Nicholls, P J, additional, Laje, G, additional, Sotnikova, T D, additional, Gainetdinov, R R, additional, Albert, P R, additional, Rajkowska, G, additional, Stockmeier, C A, additional, Speer, M C, additional, Steffens, D C, additional, Austin, M C, additional, McMahon, F J, additional, Krishnan, K R R, additional, Garcia-Blanco, M A, additional, and Caron, M G, additional

Published
2010
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46. Genetic variation in cholinergic muscarinic-2 receptor gene modulates M2 receptor binding in vivo and accounts for reduced binding in bipolar disorder

Author

Cannon, D M, primary, Klaver, J K, additional, Gandhi, S K, additional, Solorio, G, additional, Peck, S A, additional, Erickson, K, additional, N Akula, J Savitz, additional, Eckelman, W C, additional, Furey, M L, additional, Sahakian, B J, additional, McMahon, F J, additional, and Drevets, W C, additional

Published
2010
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47. Anticipation in bipolar affective disorder

Author

Mcinnis, M. G., Mcmahon, F. J., Chase, G. A., Simpson, S. G., Ross, C. A., and J Raymond DePaulo

Subjects
Research Article
Abstract

Anticipation refers to the increase in disease severity or decrease in age at onset in succeeding generations. This phenomenon, formerly ascribed to observation biases, correlates with the expansion of trinucleotide repeat sequences (TNRs) in some disorders. If present in bipolar affective disorder (BPAD), anticipation could provide clues to its genetic etiology. We compared age at onset and disease severity between two generations of 34 unilineal families ascertained for a genetic linkage study of BPAD. Life-table analyses showed a significant decrease in survival to first mania or depression from the first to the second generation (P < .001). Intergenerational pairwise comparisons showed both a significantly earlier age at onset (P < .001) and a significantly increased disease severity (P < .001) in the second generation. This difference was significant under each of four data-sampling schemes which excluded probands in the second generation. The second generation experienced onset 8.9-13.5 years earlier and illness 1.8-3.4 times more severe than did the first generation. In additional analyses, drug abuse, deaths of affected individuals prior to interview, decreased fertility, censoring of age at onset, and the cohort effect did not affect our results. We conclude that genetic anticipation occurs in this sample of unilineal BPAD families. These findings may implicate genes with expanding TNRs in the genetic etiology of BPAD.

Published
1993

50. A Novel, Heritable, Expanding CTG Repeat in an Intron of the SEF2-1 Gene on Chromosome 18q21.1

Author

Breschel, T. S., primary, McInnis, M. G., additional, Margolis, R. L., additional, Sirugo, G., additional, Corneliussen, B., additional, Simpson, S. G., additional, McMahon, F. J., additional, MacKinnon, D. F., additional, Xu, J. F., additional, Pleasant, N., additional, Huo, Y., additional, Ashworth, R. G., additional, Grundstrom, C., additional, Grundstrom, T., additional, Kidd, K. K., additional, DePaulo, J. R., additional, and Ross, C. A., additional

Published
1997
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