Search for a schizophrenia susceptibility locus on human chromosome 22

Polymeropoulos, Mihael H.; Coon, Hilary; Byerley, William; Gershon, Elliot S.; Goldin, Lynn R.; Crow, Timothy J.; Rubenstein, Jeffrey; Hoff, M.; Holik, John; Smith, Amanda M.; Shields, Gail; Bass, Nicholas; Poulter, Mark; Lofthouse, R.; Vita, Antonio; Morganti, Carla; Merril, Carl R.; DeLisi, Lynn E.

doi:10.1002/ajmg.1320540203

Cited by 81 publications

(39 citation statements)

References 12 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Interestingly, a suggestive linkage result was recently reported for schizophrenia and markers from chromosome 22q12-q13, telomeric to the VCFS region [Pulver et al, 1993]. Although others have failed to replicate this result in other families using several 22q markers [Polymeropoulos et al, 1993], further genetic studies of the region are still needed.…”

Section: Discussionmentioning

confidence: 89%

Velo‐cardio‐facial syndrome and psychotic disorders: Implications for psychiatric genetics

Chow

Bassett²,

Weksberg

1994

Am. J. Med. Genet.

View full text Add to dashboard Cite

Psychiatric disorders have been reported in over 10% of patients with velo-cardio-facial syndrome (VCFS) in long-term follow-up. To further explore the behavioral and psychiatric findings associated with VCFS in adulthood, detailed clinical histories of two patients-one with VCFS who developed a psychotic illness, and one with schizophrenia who was found to have dysmorphological features associated with VCFS-are described in the current report. The observed overlap of physical and psychiatric symptoms in these two patients suggests that VCFS and psychotic disorders may share a pathogenetic mechanism. This could be consistent with a contiguous gene model for VCFS and psychosis, suggesting chromosome 22q11 as a possible candidate region for genetic studies of schizophrenia.

show abstract

Section: Discussionmentioning

confidence: 89%

Velo‐cardio‐facial syndrome and psychotic disorders: Implications for psychiatric genetics

Chow

Bassett²,

Weksberg

1994

Am. J. Med. Genet.

View full text Add to dashboard Cite

show abstract

“…Evidence for linkage has been reported for chromosomes 1q21-22, 8 5q31, 9,10 6p, [11][12][13][14] 6q, 15,16 7p, 17 8p, 18,19 10p14-p11, [20][21][22] 13q, [23][24][25] 18p, 26,27 22q12-13. [28][29][30] . In addition to reports studying particular chromosomal regions, several complete genome-wide scans have been published.…”

Section: Introductionmentioning

confidence: 99%

A genome-wide autosomal screen for schizophrenia susceptibility loci in 71 families with affected siblings: support for loci on chromosome 10p and 6

Schwab

Hallmayer

Albus³

et al. 2000

Mol Psychiatry

158

View full text Add to dashboard Cite

Evidence from epidemiological studies and segregation analysis suggests oligo-or polygenic inheritance in schizophrenia. Since model independent methods are thought to be most appropriate for linkage analysis in complex disorders, we performed a genome-wide autosomal screen in 71 families from Germany and Israel containing 86 independent affected sibpairs with parental genotype information for statistical analysis strictly identity by descent. We genotyped 305 individuals with 463 markers at an average distance of approximately 10 cM genome-wide, and 1-2 cM in candidate regions (5q, 6p, q, 8p, 10p, 18p, 22q). The highest multipoint LOD scores (ASPEX) were obtained on 6p (D6S260, LOD = 2.0; D6S274, LOD = 2.2, MHC region, LOD = 2.15) and on 10p (D10S1714, LOD = 2.1), followed by 5q (D5S2066, LOD = 1.36), 6q (D6S271, LOD = 1.12; D6S1613, LOD = 1.11), 1q (D1S2675, LOD = 1.04), and 18p (broad disease model: D18S1116, LOD = 1.0). One hundred and thirty-three additional family members were available for some of the families (extended families) and were genotyped for these regions. GENEHUNTER produced a maximum NPL of 3.3 (P = 0.001) for the MHC region and NPL of 3.13 (P = 0.0015) for the region on 10p. There is support for these regions by independent groups. In genome-wide TDT analysis (sTDT, implemented in ASPEX), no marker passed the significance level of 0.0001 given by multiple testing, but nominal significance values for D10S211 (P = 0.03) and for GOLF (P = 0.0032) support further the linkage results on 10p and 18p. Our survey of 22 chromosomes identified candidate regions which should be useful to screen for schizophrenia susceptibility genes. Molecular Psychiatry (2000) 5, 638-649.

show abstract

“…6,7, 22 Coon et al found a maximum lod score of 2.09 with marker D22S276 (recessive model) and the maximum lod score obtained by Pulver et al was 2.82 with marker IL2RB (dominant model). Subsequent replication attempts showed weak evidence for linkage 23,24 or linkage disequilibrium, 25,26 although some studies failed to show evidence for linkage. [27][28][29] .…”

mentioning

confidence: 99%

Linkage analysis of putative schizophrenia gene candidate regions on chromosomes 3p, 5q, 6p, 8p, 20p and 22q in a population-based sampled Finnish family set

et al. 1998

View full text Add to dashboard Cite

During the past decade numerous studies have been published describing chromosomal regions potentially linked with schizophrenia. Unfortunately, none of these studies has been able to conclusively identify any specific gene that predisposes to schizophrenia. Typically evidence for linkage is seen on large chromosomal regions, as expected, containing tens or even hundreds of genes. Furthermore, attempts to replicate the findings have rarely been successful leaving a confusion about the existence of predisposing genes for schizophrenia in a particular region of the genome. We have carried out linkage analysis in a set of 62 pedigrees rising from a genetically isolated population of Finland with markers on six chromosomal regions earlier suggested to harbor predisposing genes for schizophrenia, namely 3p, 1 5q, 2,3 6p, 4 8p, 1 20p, 5 and 22q. 6,7 We were not able to find significant evidence for linkage on any of these chromosomal regions. However, some support for linkage was found on all studied chromosomal regions, except 3p.We identified all Finnish patients with schizophrenia born between 1940 and 1969 (n = 29 124). 8 Patients who had received disability pension or free medication because of schizophrenia were identified from two registers of the Social Insurance Institution, and patients who had been hospitalized for schizophrenia were identified from the National Hospital Discharge Register. All three registers were computerized in 1968; ICD-8 diagnostic criteria and codes were used before 1987, since when psychiatric diagnoses have been coded according to ICD-9 applying DSM-III-R diagnostic criteria. We accepted all probands with a 295 diagnosis according to the ICD-8 and ICD-9 numbering scheme; this includes patients with schizophrenia, schizophreniform disorder, and schizoaffective disorder. Parents and siblings were identified from the National Population Register, and information on these relatives was linked to the health care registers to obtain data on their hospital treatments, pensions, and free medications.From these pedigrees, families with at least three affected family members were identified (n = 312), and those with at least one unaffected and three affected children were asked to participate in the study. If both parents were affected, the family was excluded. Diagnoses were confirmed as described in methods. Some families refused to participate and some were excluded because of uncertain diagnoses, and finally 62 families were used for molecular genetic studies out of 102 families who were asked to participate. Three different diagnostic classes were constructed as follows: class 1 contained 137 cases of DSM-IV schizophrenia, class 2 added 23 cases with schizoaffective disorder, and class 3 another 29 individuals with schizophrenia spectrum conditions (schizophreniform disorder, schizotypal personality disorder, schizoid personality disorder, delusional disorder, brief psychotic disorder, and psychotic disorder NOS). Patients with bipolar disorder or major depressive disorder were classifie...

show abstract

Search for a schizophrenia susceptibility locus on human chromosome 22

Cited by 81 publications

References 12 publications

Velo‐cardio‐facial syndrome and psychotic disorders: Implications for psychiatric genetics

Velo‐cardio‐facial syndrome and psychotic disorders: Implications for psychiatric genetics

A genome-wide autosomal screen for schizophrenia susceptibility loci in 71 families with affected siblings: support for loci on chromosome 10p and 6

Linkage analysis of putative schizophrenia gene candidate regions on chromosomes 3p, 5q, 6p, 8p, 20p and 22q in a population-based sampled Finnish family set

Contact Info

Product

Resources

About