Evidence of genetic overlap of schizophrenia and bipolar disorder

Linkage disequilibrium analysis of chromosome 18 in the Costa Rican population

Consuelo Walss-Bass, Michael A. Escamilla, Henriette Raventos, A. Patricia Montero, Regina Armas, Albana M Dassori, Salvador Contreras, Wei Liu, Rolando Medina, Teresa G. Balderas, Douglas Levinson, Reynaldo Pereira, Mariana Pereira, Ivannia Atmella, Lisa NeSmith, Robin J Leach, Laura Almasy

Research output: Contribution to journalArticle

32 Citations (Scopus)

Abstract

The long-standing concept that schizophrenia (SC) and bipolar disorder (BP) represent two distinct illnesses has been recently challenged by findings of overlap of genetic susceptibility loci for these two diseases. We report here the results of a linkage disequilibrium (LD) analysis of chromosome 18 utilizing subjects with SC from the Central Valley of Costa Rica. Evidence of association (P < 0.05) was obtained in three chromosomal regions: 18p11.31 (D18S63), 18q12.3 (D18S474), and 18q22.3-qter (D18S1161, B18S70), all of which overlap or are in close proximity with loci previously shown to be in LD with BP, type I in this population. Since both the SC and bipolar samples contained cases with a history of mania and almost all cases of SC and BP had a history of psychosis, we performed an alternative phenotyping strategy to determine whether presence or absence of mania, in the context of psychosis, would yield distinct linkage patterns along chromosome 18. To address this issue, a cohort of psychotic patients (including a range of DSMIV diagnoses) was divided into two groups based on the presence or absence of mania. Regions that showed association with SC showed segregation of association when the sample was stratified by history of mania. Our results are compared with previous genetic studies of susceptibility to SC or BP, in Costa Rica as well as in other populations. This study illustrates the importance of detailed phenotype analysis in the search for susceptibility genes influencing complex psychiatric disorders in isolated populations and suggests that subdivision of psychoses by presence or absence of past mania syndromes may be useful to define genetic subtypes of chronic psychotic illness.

Original languageEnglish (US)
Pages (from-to)54-60
Number of pages7
JournalAmerican Journal of Medical Genetics - Neuropsychiatric Genetics
Volume139 B
Issue number1
DOIs
StatePublished - Nov 5 2005

Fingerprint

Chromosomes, Human, Pair 18
Linkage Disequilibrium
Bipolar Disorder
Schizophrenia
Population
Psychotic Disorders
Costa Rica
Genetic Predisposition to Disease
Genetic Loci
Psychiatry
Chronic Disease
Phenotype

Keywords

  • Association
  • Genetics
  • Linkage disequilibrium
  • Mania
  • Psychosis
  • Schizophrenia

ASJC Scopus subject areas

  • Genetics(clinical)
  • Neuropsychology and Physiological Psychology
  • Neuroscience(all)

Cite this

Evidence of genetic overlap of schizophrenia and bipolar disorder : Linkage disequilibrium analysis of chromosome 18 in the Costa Rican population. / Walss-Bass, Consuelo; Escamilla, Michael A.; Raventos, Henriette; Montero, A. Patricia; Armas, Regina; Dassori, Albana M; Contreras, Salvador; Liu, Wei; Medina, Rolando; Balderas, Teresa G.; Levinson, Douglas; Pereira, Reynaldo; Pereira, Mariana; Atmella, Ivannia; NeSmith, Lisa; Leach, Robin J; Almasy, Laura.

In: American Journal of Medical Genetics - Neuropsychiatric Genetics, Vol. 139 B, No. 1, 05.11.2005, p. 54-60.

Research output: Contribution to journalArticle

Walss-Bass, C, Escamilla, MA, Raventos, H, Montero, AP, Armas, R, Dassori, AM, Contreras, S, Liu, W, Medina, R, Balderas, TG, Levinson, D, Pereira, R, Pereira, M, Atmella, I, NeSmith, L, Leach, RJ & Almasy, L 2005, 'Evidence of genetic overlap of schizophrenia and bipolar disorder: Linkage disequilibrium analysis of chromosome 18 in the Costa Rican population', American Journal of Medical Genetics - Neuropsychiatric Genetics, vol. 139 B, no. 1, pp. 54-60. https://doi.org/10.1002/ajmg.b.30207
Walss-Bass, Consuelo ; Escamilla, Michael A. ; Raventos, Henriette ; Montero, A. Patricia ; Armas, Regina ; Dassori, Albana M ; Contreras, Salvador ; Liu, Wei ; Medina, Rolando ; Balderas, Teresa G. ; Levinson, Douglas ; Pereira, Reynaldo ; Pereira, Mariana ; Atmella, Ivannia ; NeSmith, Lisa ; Leach, Robin J ; Almasy, Laura. / Evidence of genetic overlap of schizophrenia and bipolar disorder : Linkage disequilibrium analysis of chromosome 18 in the Costa Rican population. In: American Journal of Medical Genetics - Neuropsychiatric Genetics. 2005 ; Vol. 139 B, No. 1. pp. 54-60.
@article{6471047bd94a450db0f415f738eafdc4,
title = "Evidence of genetic overlap of schizophrenia and bipolar disorder: Linkage disequilibrium analysis of chromosome 18 in the Costa Rican population",
abstract = "The long-standing concept that schizophrenia (SC) and bipolar disorder (BP) represent two distinct illnesses has been recently challenged by findings of overlap of genetic susceptibility loci for these two diseases. We report here the results of a linkage disequilibrium (LD) analysis of chromosome 18 utilizing subjects with SC from the Central Valley of Costa Rica. Evidence of association (P < 0.05) was obtained in three chromosomal regions: 18p11.31 (D18S63), 18q12.3 (D18S474), and 18q22.3-qter (D18S1161, B18S70), all of which overlap or are in close proximity with loci previously shown to be in LD with BP, type I in this population. Since both the SC and bipolar samples contained cases with a history of mania and almost all cases of SC and BP had a history of psychosis, we performed an alternative phenotyping strategy to determine whether presence or absence of mania, in the context of psychosis, would yield distinct linkage patterns along chromosome 18. To address this issue, a cohort of psychotic patients (including a range of DSMIV diagnoses) was divided into two groups based on the presence or absence of mania. Regions that showed association with SC showed segregation of association when the sample was stratified by history of mania. Our results are compared with previous genetic studies of susceptibility to SC or BP, in Costa Rica as well as in other populations. This study illustrates the importance of detailed phenotype analysis in the search for susceptibility genes influencing complex psychiatric disorders in isolated populations and suggests that subdivision of psychoses by presence or absence of past mania syndromes may be useful to define genetic subtypes of chronic psychotic illness.",
keywords = "Association, Genetics, Linkage disequilibrium, Mania, Psychosis, Schizophrenia",
author = "Consuelo Walss-Bass and Escamilla, {Michael A.} and Henriette Raventos and Montero, {A. Patricia} and Regina Armas and Dassori, {Albana M} and Salvador Contreras and Wei Liu and Rolando Medina and Balderas, {Teresa G.} and Douglas Levinson and Reynaldo Pereira and Mariana Pereira and Ivannia Atmella and Lisa NeSmith and Leach, {Robin J} and Laura Almasy",
year = "2005",
month = "11",
day = "5",
doi = "10.1002/ajmg.b.30207",
language = "English (US)",
volume = "139 B",
pages = "54--60",
journal = "American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics",
issn = "1552-4841",
publisher = "Wiley-Liss Inc.",
number = "1",

}

TY - JOUR

T1 - Evidence of genetic overlap of schizophrenia and bipolar disorder

T2 - Linkage disequilibrium analysis of chromosome 18 in the Costa Rican population

AU - Walss-Bass, Consuelo

AU - Escamilla, Michael A.

AU - Raventos, Henriette

AU - Montero, A. Patricia

AU - Armas, Regina

AU - Dassori, Albana M

AU - Contreras, Salvador

AU - Liu, Wei

AU - Medina, Rolando

AU - Balderas, Teresa G.

AU - Levinson, Douglas

AU - Pereira, Reynaldo

AU - Pereira, Mariana

AU - Atmella, Ivannia

AU - NeSmith, Lisa

AU - Leach, Robin J

AU - Almasy, Laura

PY - 2005/11/5

Y1 - 2005/11/5

N2 - The long-standing concept that schizophrenia (SC) and bipolar disorder (BP) represent two distinct illnesses has been recently challenged by findings of overlap of genetic susceptibility loci for these two diseases. We report here the results of a linkage disequilibrium (LD) analysis of chromosome 18 utilizing subjects with SC from the Central Valley of Costa Rica. Evidence of association (P < 0.05) was obtained in three chromosomal regions: 18p11.31 (D18S63), 18q12.3 (D18S474), and 18q22.3-qter (D18S1161, B18S70), all of which overlap or are in close proximity with loci previously shown to be in LD with BP, type I in this population. Since both the SC and bipolar samples contained cases with a history of mania and almost all cases of SC and BP had a history of psychosis, we performed an alternative phenotyping strategy to determine whether presence or absence of mania, in the context of psychosis, would yield distinct linkage patterns along chromosome 18. To address this issue, a cohort of psychotic patients (including a range of DSMIV diagnoses) was divided into two groups based on the presence or absence of mania. Regions that showed association with SC showed segregation of association when the sample was stratified by history of mania. Our results are compared with previous genetic studies of susceptibility to SC or BP, in Costa Rica as well as in other populations. This study illustrates the importance of detailed phenotype analysis in the search for susceptibility genes influencing complex psychiatric disorders in isolated populations and suggests that subdivision of psychoses by presence or absence of past mania syndromes may be useful to define genetic subtypes of chronic psychotic illness.

AB - The long-standing concept that schizophrenia (SC) and bipolar disorder (BP) represent two distinct illnesses has been recently challenged by findings of overlap of genetic susceptibility loci for these two diseases. We report here the results of a linkage disequilibrium (LD) analysis of chromosome 18 utilizing subjects with SC from the Central Valley of Costa Rica. Evidence of association (P < 0.05) was obtained in three chromosomal regions: 18p11.31 (D18S63), 18q12.3 (D18S474), and 18q22.3-qter (D18S1161, B18S70), all of which overlap or are in close proximity with loci previously shown to be in LD with BP, type I in this population. Since both the SC and bipolar samples contained cases with a history of mania and almost all cases of SC and BP had a history of psychosis, we performed an alternative phenotyping strategy to determine whether presence or absence of mania, in the context of psychosis, would yield distinct linkage patterns along chromosome 18. To address this issue, a cohort of psychotic patients (including a range of DSMIV diagnoses) was divided into two groups based on the presence or absence of mania. Regions that showed association with SC showed segregation of association when the sample was stratified by history of mania. Our results are compared with previous genetic studies of susceptibility to SC or BP, in Costa Rica as well as in other populations. This study illustrates the importance of detailed phenotype analysis in the search for susceptibility genes influencing complex psychiatric disorders in isolated populations and suggests that subdivision of psychoses by presence or absence of past mania syndromes may be useful to define genetic subtypes of chronic psychotic illness.

KW - Association

KW - Genetics

KW - Linkage disequilibrium

KW - Mania

KW - Psychosis

KW - Schizophrenia

UR - http://www.scopus.com/inward/record.url?scp=27644533246&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=27644533246&partnerID=8YFLogxK

U2 - 10.1002/ajmg.b.30207

DO - 10.1002/ajmg.b.30207

M3 - Article

VL - 139 B

SP - 54

EP - 60

JO - American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics

JF - American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics

SN - 1552-4841

IS - 1

ER -