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- Publisher Website: 10.1038/sj.mp.4000638
- Scopus: eid_2-s2.0-0033966919
- PMID: 10673772
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Article: Family-based linkage disequilibrium mapping using SNP marker haplotypes: Application to a potential locus for schizophrenia at chromosome 22q11
Title | Family-based linkage disequilibrium mapping using SNP marker haplotypes: Application to a potential locus for schizophrenia at chromosome 22q11 |
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Authors | |
Keywords | Allelic association ARVCF COMT Family trios LD maps Psychosis TDT |
Issue Date | 2000 |
Publisher | Nature Publishing Group. The Journal's web site is located at http://www.nature.com/mp |
Citation | Molecular Psychiatry, 2000, v. 5 n. 1, p. 77-84 How to Cite? |
Abstract | Family-based linkage disequilibrium mapping using SNP markers is expected to be a major route to the identification of susceptibility alleles for complex diseases. However there are a number of methodological issues yet to be resolved, including the handling of extended haplotype data and analysis of haplotype transmission in sib-pair or family trio samples. In the present study, we have analysed two dinucleotide repeat and six SNP markers at the COMT locus at chromosome 22q11, a region implicated in psychosis, for transmission distortion in 198 Chinese schizophrenic family trios. When individual markers were analysed using the TDT, two showed modest evidence of transmission distortion (186C/T, P = 0.04; Val158Met, P = 0.01). Using haplotypes of paired markers analysed by the program TRANSMIT, the most significant P value was 0.001, for the Met158Val and 900ins/delC polymorphisms in the COMT gene. The global P value for the haplotypes of all six SNP markers tested was 0.004, largely a result of the excess transmission of two extended haplotypes which differed at the marker 408C/G. The exclusion of this marker from the analysis gave a global P value of 0.002 and produced a five marker haplotype system which was significant at P = 0.0006. This haplotype consisted of the alleles -287G:186C:Val158:900insC:ARVCF930C, which may represent a background haplotype for the transmission of a schizophrenia susceptibility allele at chromosome 22q11. Our results support the hypotheses that either COMT is itself a susceptibility gene, or more likely that this region of chromosome 22 contains a susceptibility gene that is in linkage disequilibrium with COMT alleles. |
Persistent Identifier | http://hdl.handle.net/10722/175819 |
ISSN | 2023 Impact Factor: 9.6 2023 SCImago Journal Rankings: 3.895 |
ISI Accession Number ID | |
References |
DC Field | Value | Language |
---|---|---|
dc.contributor.author | Li, T | en_US |
dc.contributor.author | Ball, D | en_US |
dc.contributor.author | Zhao, J | en_US |
dc.contributor.author | Murray, RM | en_US |
dc.contributor.author | Liu, X | en_US |
dc.contributor.author | Sham, PC | en_US |
dc.contributor.author | Collier, DA | en_US |
dc.date.accessioned | 2012-11-26T09:01:33Z | - |
dc.date.available | 2012-11-26T09:01:33Z | - |
dc.date.issued | 2000 | en_US |
dc.identifier.citation | Molecular Psychiatry, 2000, v. 5 n. 1, p. 77-84 | en_US |
dc.identifier.issn | 1359-4184 | en_US |
dc.identifier.uri | http://hdl.handle.net/10722/175819 | - |
dc.description.abstract | Family-based linkage disequilibrium mapping using SNP markers is expected to be a major route to the identification of susceptibility alleles for complex diseases. However there are a number of methodological issues yet to be resolved, including the handling of extended haplotype data and analysis of haplotype transmission in sib-pair or family trio samples. In the present study, we have analysed two dinucleotide repeat and six SNP markers at the COMT locus at chromosome 22q11, a region implicated in psychosis, for transmission distortion in 198 Chinese schizophrenic family trios. When individual markers were analysed using the TDT, two showed modest evidence of transmission distortion (186C/T, P = 0.04; Val158Met, P = 0.01). Using haplotypes of paired markers analysed by the program TRANSMIT, the most significant P value was 0.001, for the Met158Val and 900ins/delC polymorphisms in the COMT gene. The global P value for the haplotypes of all six SNP markers tested was 0.004, largely a result of the excess transmission of two extended haplotypes which differed at the marker 408C/G. The exclusion of this marker from the analysis gave a global P value of 0.002 and produced a five marker haplotype system which was significant at P = 0.0006. This haplotype consisted of the alleles -287G:186C:Val158:900insC:ARVCF930C, which may represent a background haplotype for the transmission of a schizophrenia susceptibility allele at chromosome 22q11. Our results support the hypotheses that either COMT is itself a susceptibility gene, or more likely that this region of chromosome 22 contains a susceptibility gene that is in linkage disequilibrium with COMT alleles. | en_US |
dc.language | eng | en_US |
dc.publisher | Nature Publishing Group. The Journal's web site is located at http://www.nature.com/mp | en_US |
dc.relation.ispartof | Molecular Psychiatry | en_US |
dc.subject | Allelic association | - |
dc.subject | ARVCF | - |
dc.subject | COMT | - |
dc.subject | Family trios | - |
dc.subject | LD maps | - |
dc.subject | Psychosis | - |
dc.subject | TDT | - |
dc.subject.mesh | Adolescent | en_US |
dc.subject.mesh | Adult | en_US |
dc.subject.mesh | Alleles | en_US |
dc.subject.mesh | Asian Continental Ancestry Group - Genetics | en_US |
dc.subject.mesh | Chromosome Mapping | en_US |
dc.subject.mesh | Chromosomes, Human, Pair 22 | en_US |
dc.subject.mesh | Dna Primers | en_US |
dc.subject.mesh | Dna, Satellite - Analysis | en_US |
dc.subject.mesh | Family Health | en_US |
dc.subject.mesh | Female | en_US |
dc.subject.mesh | Genetic Markers | en_US |
dc.subject.mesh | Genetic Predisposition To Disease | en_US |
dc.subject.mesh | Haplotypes | en_US |
dc.subject.mesh | Humans | en_US |
dc.subject.mesh | Linkage Disequilibrium | en_US |
dc.subject.mesh | Male | en_US |
dc.subject.mesh | Middle Aged | en_US |
dc.subject.mesh | Polymorphism, Single-Stranded Conformational | en_US |
dc.subject.mesh | Schizophrenia - Genetics | en_US |
dc.title | Family-based linkage disequilibrium mapping using SNP marker haplotypes: Application to a potential locus for schizophrenia at chromosome 22q11 | en_US |
dc.type | Article | en_US |
dc.identifier.email | Sham, PC: pcsham@hku.hk | en_US |
dc.identifier.authority | Sham, PC=rp00459 | en_US |
dc.description.nature | link_to_subscribed_fulltext | en_US |
dc.identifier.doi | 10.1038/sj.mp.4000638 | - |
dc.identifier.pmid | 10673772 | - |
dc.identifier.scopus | eid_2-s2.0-0033966919 | en_US |
dc.relation.references | http://www.scopus.com/mlt/select.url?eid=2-s2.0-0033966919&selection=ref&src=s&origin=recordpage | en_US |
dc.identifier.volume | 5 | en_US |
dc.identifier.issue | 1 | en_US |
dc.identifier.spage | 77 | en_US |
dc.identifier.epage | 84 | en_US |
dc.identifier.isi | WOS:000085165600015 | - |
dc.publisher.place | United Kingdom | en_US |
dc.identifier.scopusauthorid | Li, T=36072008200 | en_US |
dc.identifier.scopusauthorid | Ball, D=7202703810 | en_US |
dc.identifier.scopusauthorid | Zhao, J=7410311266 | en_US |
dc.identifier.scopusauthorid | Murray, RM=35406239400 | en_US |
dc.identifier.scopusauthorid | Liu, X=7409286408 | en_US |
dc.identifier.scopusauthorid | Sham, PC=34573429300 | en_US |
dc.identifier.scopusauthorid | Collier, DA=26642980600 | en_US |
dc.identifier.issnl | 1359-4184 | - |