Linkage analysis between manic‐depressive illness and 35 classical markers

Ewald, Henrik; Mors, Ole; Eiberg, Hans

doi:10.1002/ajmg.1320540210

Cited by 10 publications

(6 citation statements)

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“…This was done as the linkage results pointing to a candidate gene for BPAD at chromosome region 16p13.3 were obtained in a recessive mode of transmission (although the region received some support in a dominant mode of transmission as well). 40 When evaluating haplotypes it was clear that affected family members did not consistently carry two identical haplotypes. This was albeit not expected for a complex heterogenic disorder.…”

Section: Haplotypes In Families Transmitting Bpadmentioning

confidence: 99%

Novel polymorphisms in the somatostatin receptor 5 (SSTR5) gene associated with bipolar affective disorder

et al. 2002

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The somatostatin receptor 5 (SSTR5) gene is a candidate gene for bipolar affective disorder (BPAD) as well as for other neuropsychiatric disorders. The gene is positioned on chromosome 16p13.3, a region that has been implicated by a few linkage studies to potentially harbor a disease susceptibility gene for BPAD. Recent evidence shows that the dopamine D2 receptor (DRD2) and SSTR5 interact physically to form heterodimers with enhanced functional activity. Brain D2 dopamine receptors are one of the major targets of neuroleptic treatments in psychiatric disorders. In this study we systematically screened the promoter and coding region of the SSTR5 gene for genetic variation that could contribute to the development of neuropsychiatric disorders. Eleven novel single nucleotide polymorphisms (SNPs) were identified including four missense SNPs, Leu48Met, Ala52Val, Pro109Ser and Pro335Leu. We carried out an association study of BPAD using 80 Danish cases and 144 control subjects, and replication analysis using 55 British cases and 88 control subjects. For the Danish population, association was suggested between silent SNP G573A and BPAD (P = 0.008). For the British population we found association to BPAD with missense mutation Leu48Met (P = 0.003) and missense mutation Pro335Leu (P = 0.004). The statistical significance of the association was, however, greatly reduced after correcting for multiple testing. When combining genotypes from Leu48Met and Pro335Leu into haplotypes, association to BPAD was found in the British population (P = 0.0007). This haplotype association was not replicated in the Danish population. Our results may indicate that the SSTR5 gene is involved in the etiology of BPAD or may exist in linkage disequilibrium with a susceptibility gene close to SSTR5. However, given the marginal statistical significance and the potential for false-positive results in association studies with candidate genes, further studies are needed to clarify this hypothesis.

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Section: Haplotypes In Families Transmitting Bpadmentioning

confidence: 99%

Novel polymorphisms in the somatostatin receptor 5 (SSTR5) gene associated with bipolar affective disorder

et al. 2002

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“…Statistically, relatively high pene trances for persons homozygous for the nor mal allele were chosen to allow for the possi bility of cases being caused by other genes or the environment. In the broader phenotypic models, cases with a higher hierarchical diag nosis contributed relatively most information in the linkage analyses [13]. False-negative cases will result in a loss of power in the linkage analyses.…”

Section: Discussionmentioning

confidence: 99%

“…without access to the family data or laboratory results, and his diagnoses, made in accordance with ICD-10 Di agnostic Criteria for Research (RDC), were recorded. 288 Ewald Mors/FIint/Kruse Linkage Analysis between ManicDepressive Illness and 15ql I-i|l3 Further details concerning case ascertainment, di agnostic procedure, exclusion criteria, interrater relia bility and diagnoses according to RDC have been re ported earlier [13].…”

Section: Case Ascertainment and Diagnosismentioning

confidence: 99%

“…The penetrances for persons homozygous for the normal allele were set rel atively high and age dependent, adding up to 0.005, 0.02 and 0.06 for models 1,2 and 3, respectively. The ex act age-dependent penetrances for the different mod els have been reported earlier [13]. The frequency of the disease allele was set to 0.004 for model 1. and to 0.01 for models 2 and 3.…”

Section: Linkage Analysismentioning

confidence: 99%

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Linkage Analysis between Manic-Depressive Illness and the Region on Chromosome 15q Involved in Prader-Syndrome, including Two GABA<sub>A</sub> Receptor Subtype Genes

et al. 1994

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Cooccurrence of Prader-Willi syndrome and psychosis has been reported in a few cases. Prader-Willi syndrome is most often associated with interstitial deletion or uniparental disomy of chromosome 15qll-ql3. The cooccurrence of Prader-Willi syndrome and psychosis may thus be due to deletion of, or in the case of uniparental disomy, duplication of a gene involved in the etiology of psychosis, possibly manic-depressive illness localized in this region. The region contains two assumed candidate genes for manic-depressive illness, the α₅ and β₃ sub-units of the γ-aminobutyric acid (GABA)_A receptor. This study investigates linkage between manic-depressive illness and this region. Furthermore, an additional case with Prader-Willi syndrome and psychosis is briefly described. No evidence of linkage was found assuming dominant or recessive modes of inheritance. Linkage to the GABA_A receptor subunits was excluded assuming a dominant mode of transmission for all models, and to the proximal part of the chromosome 15qll-ql3 region for broader phenotypic models. Negative though largely inconclusive lod scores were obtained assuming a recessive mode of transmission; however close linkage to the β₃ subtype of the GABA_A receptor was excluded.

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“…Other syndromes with coand a broad definition (schizophrenia and schizoaffective disorder plus other spectrum disorders). There occurrence of psychotic symptoms are Prader-Willi syndrome, 143,144 which is most often associated with have been, however, several attempts to improve the definition of the phenotype for genetic studies by using interstitial deletion or uniparental disomy of chromosome 15q11-q13, and Wolfram syndrome, 145,146 an electrophysiological 155,156 and neuropsychological 157 measures. Abnormalities of P300 latency and ampliautosomal recessive syndrome, the gene for which maps on the short arm of chromosome 4.…”

Section: Genetic Approachesmentioning

confidence: 99%

Dissecting the genetic complexity of schizophrenia

Karayiorgou

Gogos

1997

Mol Psychiatry

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Twin, adoption and family studies have provided overwhelming but indirect evidence for a significant genetic contribution to the etiology of schizophrenia. More recent studies exploiting a plethora of highly polymorphic genetic markers provide a more direct approach to the identification and localization of genes. Current investigative efforts to identify schizophrenia susceptibility genes include diverse approaches such as linkage analysis, association studies, search for chromosomal abnormalities, analysis of disorders or syndromes with simple inheritance that overlap phenotypically with schizophrenia, studies of genetic anticipation and efforts to facilitate genetic analysis by reducing the phenotypic complexity of the disease. For the first time, after many years, there are now several promising findings, as well as replication efforts that inspire a certain degree of confidence in them.

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Linkage analysis between manic‐depressive illness and 35 classical markers

Cited by 10 publications

References 20 publications

Novel polymorphisms in the somatostatin receptor 5 (SSTR5) gene associated with bipolar affective disorder

Novel polymorphisms in the somatostatin receptor 5 (SSTR5) gene associated with bipolar affective disorder

Linkage Analysis between Manic-Depressive Illness and the Region on Chromosome 15q Involved in Prader-Syndrome, including Two GABA<sub>A</sub> Receptor Subtype Genes

Dissecting the genetic complexity of schizophrenia

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