Genomewide Linkage Scan in Schizoaffective Disorder

Hamshere, Marian L.; Bennett, Philip C.; Williams, Nigel; Segurado, Ricardo; Cardno, Alastair G.; Norton, Nadine; Lambert, David; Williams, Hywel; Kirov, George; Corvin, Aiden; Holmans, Peter Alan; Jones, Lisa; Jones, Ian; Gill, Michael; O'Donovan, Michael Conlon; Craddock, Nicholas John

doi:10.1001/archpsyc.62.10.1081

Cited by 173 publications

(35 citation statements)

References 58 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…A recent study of families with BPD, schizoaffective and schizophrenia provided evidence of linkage to a marker at 231 Mb with a LOD score of 3.54 [Hamshere et al, 2005]. Similar results were obtained by MacGregor et al [2004] in their investigation of 22 Scottish families, with a two-point parametric LOD score of 2.63 at 227.2 Mb (1q42.2) under a recessive inheritance model.…”

supporting

confidence: 68%

Preliminary evidence for linkage to chromosome 1q31‐32, 10q23.3, and 16p13.3 in a South African cohort with bipolar disorder

Savitz

Cupido

Ramesar

2006

American J of Med Genetics Pt B

View full text Add to dashboard Cite

Although the genetic variants predisposing to the development of bipolar disorder (BPD) have yet to be conclusively identified, replicated reports of linkage to particular chromosomal regions have been encouraging. Here we carried out a non-parametric linkage analysis of nine of these candidate loci in a unique South African sample of 47 BPD pedigrees (N = 350). Three polymorphic markers per region of interest (3 x 9) were typed in a Caucasian cohort of Afrikaner and British origin. Statistically significant evidence for linkage was obtained at 1q31-32, 10q23.3, and 16p13.3 with maximum NPL scores of 2.52, 2.01, and 1.84, respectively. Our results add to the growing evidence that these chromosomal regions harbor genetic variants that play a role in the development of bipolar spectrum illness. Negative results were obtained for the remaining six candidate loci, possibly due to limited statistical power.

show abstract

supporting

confidence: 68%

Preliminary evidence for linkage to chromosome 1q31‐32, 10q23.3, and 16p13.3 in a South African cohort with bipolar disorder

Savitz

Cupido

Ramesar

2006

American J of Med Genetics Pt B

View full text Add to dashboard Cite

show abstract

“…Genome scans 53, 54, 55 and candidate gene analyses 56, 57 have consistently linked DISC1 with risk for several psychiatric disorders including a report of multiple haplotypes within DISC1 associated with both affective and psychotic disorders 58 . The considerable overlap in findings relating DISC1 to a broad spectrum of affective and psychotic disorders suggests that variation in DISC1 may confer risks that traverse diagnostic boundaries.…”

Section: Evidence Derived From Candidate Gene Studiesmentioning

confidence: 99%

Molecular Genetics of the Psychosis Phenotype

2012

View full text Add to dashboard Cite

Objective Relative to recent successes in elucidating the genetic mechanisms associated with complex diseases including macular degeneration, Type II diabetes, heart disease and cancer, molecular genetic approaches to psychiatric illness have met with more limited success. While factors such as small allelic effects, allelic heterogeneity and variation in population sub-structure have received considerable attention in attempt to explain the paucity of significant results in psychiatric genetics, significantly less focus has been directed towards phenotypic factors. Method Data derived from molecular genetic studies of the psychosis phenotype in patients with a range of psychiatric illnesses are reviewed. Results Available data suggest that genes do not respect the boundaries of the current diagnostic system but may confer risk for symptom-based phenotypic variation that traverses those boundaries. Conclusions Molecular genetic studies offer convincing evidence for a relation between genetic variation and symptom-based phenotypic variation within psychiatric illness. These data may provide novel insights into the pathophysiology of schizophrenia and other related disorders. The exploration of relationships between genetic variation and symptom variation that traverses traditional diagnostic boundaries may ultimately lead to more refined classification systems that more closely reflect the genetic etiology of psychiatric illness.

show abstract

“…The high frequency of the minor allele previously found in a geriatric sample 2 might be the result of population stratification. However, considering the failure to replicate their findings in a large independent sample (over 5000 subjects from different populations) [4][5][6] and the frequency of the observation of the His441 variant in the initial sample, including a few homozygotes, 2 possible technical artefacts, other than genotype readings cannot be ruled out.…”

mentioning

confidence: 99%

“…[2][3][4][5] This locus was originally implicated from the study of a Scottish family in which the balanced translocation t(1;11)(q42;q14.3) co-segregated with major mental disorders, the translocation disrupting a gene that was named DISC1. 6 Association studies have also implicated DISC1.…”

mentioning

confidence: 99%

“…[4][5][6] To add to this puzzle, DNA from the patients with the G1463A polymorphism were kindly made available by Dr Caron's lab to those groups who confirmed the presence of that SNP. However, these data suggest an association of the G1463A variant with severe depression that is refractory to conventional medication, necessitating electrical convulsive therapy (ECT).…”

mentioning

confidence: 99%

See 1 more Smart Citation