Linkage to the FOXC2 region of chromosome 16 for varicose veins in otherwise healthy, unselected sibling pairs.
Identifieur interne : 003870 ( PubMed/Checkpoint ); précédent : 003869; suivant : 003871Linkage to the FOXC2 region of chromosome 16 for varicose veins in otherwise healthy, unselected sibling pairs.
Auteurs : M Y M. Ng ; T. Andrew ; T D Spector ; S. JefferySource :
- Journal of medical genetics [ 1468-6244 ] ; 2005.
Descripteurs français
- KwdFr :
- Adolescent, Adulte, Adulte d'âge moyen, Allèles, Chromosomes humains de la paire 16 (génétique), Dépistage génétique, Facteurs de transcription Forkhead (génétique), Femelle, Génotype, Humains, Hémorroïdes (génétique), Liaison génétique, Phénotype, Sujet âgé, Sujet âgé de 80 ans ou plus, Varices (génétique), Études de jumeaux comme sujet.
- MESH :
- génétique : Chromosomes humains de la paire 16, Facteurs de transcription Forkhead, Hémorroïdes, Varices.
- Adolescent, Adulte, Adulte d'âge moyen, Allèles, Dépistage génétique, Femelle, Génotype, Humains, Liaison génétique, Phénotype, Sujet âgé, Sujet âgé de 80 ans ou plus, Études de jumeaux comme sujet.
English descriptors
- KwdEn :
- MESH :
- chemical , genetics : Forkhead Transcription Factors.
- genetics : Chromosomes, Human, Pair 16, Hemorrhoids, Varicose Veins.
- Adolescent, Adult, Aged, Aged, 80 and over, Alleles, Female, Genetic Linkage, Genetic Testing, Genotype, Humans, Middle Aged, Phenotype, Twin Studies as Topic.
Abstract
The FOXC2 gene on 16q24 is mutated in lymphoedema distichiasis (LD), in which varicose veins (VV) are a common feature. We hypothesised that this gene might be implicated in the development of VV in the normal population, therefore, after performing a classical twin study, we tested for linkage and association in white women. We also tested for linkage with haemorrhoids (H), as a separate venous anomaly at the same locus.
DOI: 10.1136/jmg.2004.024075
PubMed: 15744037
Affiliations:
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pubmed:15744037Le document en format XML
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Jeffery</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2005">2005</date><idno type="RBID">pubmed:15744037</idno><idno type="pmid">15744037</idno><idno type="doi">10.1136/jmg.2004.024075</idno><idno type="wicri:Area/PubMed/Corpus">003D55</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">003D55</idno><idno type="wicri:Area/PubMed/Curation">003D55</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Curation">003D55</idno><idno type="wicri:Area/PubMed/Checkpoint">003D55</idno><idno type="wicri:explorRef" wicri:stream="Checkpoint" wicri:step="PubMed">003D55</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Linkage to the FOXC2 region of chromosome 16 for varicose veins in otherwise healthy, unselected sibling pairs.</title><author><name sortKey="Ng, M Y M" sort="Ng, M Y M" uniqKey="Ng M" first="M Y M" last="Ng">M Y M. Ng</name><affiliation><nlm:affiliation>Twin Research and Genetic Epidemiology Unit, St. Thomas' Hospital, London SE1 7EH.</nlm:affiliation><wicri:noCountry code="subField">London SE1 7EH</wicri:noCountry></affiliation></author><author><name sortKey="Andrew, T" sort="Andrew, T" uniqKey="Andrew T" first="T" last="Andrew">T. Andrew</name></author><author><name sortKey="Spector, T D" sort="Spector, T D" uniqKey="Spector T" first="T D" last="Spector">T D Spector</name></author><author><name sortKey="Jeffery, S" sort="Jeffery, S" uniqKey="Jeffery S" first="S" last="Jeffery">S. Jeffery</name></author></analytic><series><title level="j">Journal of medical genetics</title><idno type="eISSN">1468-6244</idno><imprint><date when="2005" type="published">2005</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Aged</term><term>Aged, 80 and over</term><term>Alleles</term><term>Chromosomes, Human, Pair 16 (genetics)</term><term>Female</term><term>Forkhead Transcription Factors (genetics)</term><term>Genetic Linkage</term><term>Genetic Testing</term><term>Genotype</term><term>Hemorrhoids (genetics)</term><term>Humans</term><term>Middle Aged</term><term>Phenotype</term><term>Twin Studies as Topic</term><term>Varicose Veins (genetics)</term></keywords><keywords scheme="KwdFr" xml:lang="fr"><term>Adolescent</term><term>Adulte</term><term>Adulte d'âge moyen</term><term>Allèles</term><term>Chromosomes humains de la paire 16 (génétique)</term><term>Dépistage génétique</term><term>Facteurs de transcription Forkhead (génétique)</term><term>Femelle</term><term>Génotype</term><term>Humains</term><term>Hémorroïdes (génétique)</term><term>Liaison génétique</term><term>Phénotype</term><term>Sujet âgé</term><term>Sujet âgé de 80 ans ou plus</term><term>Varices (génétique)</term><term>Études de jumeaux comme sujet</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Forkhead Transcription Factors</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Chromosomes, Human, Pair 16</term><term>Hemorrhoids</term><term>Varicose Veins</term></keywords><keywords scheme="MESH" qualifier="génétique" xml:lang="fr"><term>Chromosomes humains de la paire 16</term><term>Facteurs de transcription Forkhead</term><term>Hémorroïdes</term><term>Varices</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adolescent</term><term>Adult</term><term>Aged</term><term>Aged, 80 and over</term><term>Alleles</term><term>Female</term><term>Genetic Linkage</term><term>Genetic Testing</term><term>Genotype</term><term>Humans</term><term>Middle Aged</term><term>Phenotype</term><term>Twin Studies as Topic</term></keywords><keywords scheme="MESH" xml:lang="fr"><term>Adolescent</term><term>Adulte</term><term>Adulte d'âge moyen</term><term>Allèles</term><term>Dépistage génétique</term><term>Femelle</term><term>Génotype</term><term>Humains</term><term>Liaison génétique</term><term>Phénotype</term><term>Sujet âgé</term><term>Sujet âgé de 80 ans ou plus</term><term>Études de jumeaux comme sujet</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">The FOXC2 gene on 16q24 is mutated in lymphoedema distichiasis (LD), in which varicose veins (VV) are a common feature. We hypothesised that this gene might be implicated in the development of VV in the normal population, therefore, after performing a classical twin study, we tested for linkage and association in white women. We also tested for linkage with haemorrhoids (H), as a separate venous anomaly at the same locus.</div></front></TEI><pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">15744037</PMID><DateCreated><Year>2005</Year><Month>03</Month><Day>03</Day></DateCreated><DateCompleted><Year>2006</Year><Month>03</Month><Day>31</Day></DateCompleted><DateRevised><Year>2014</Year><Month>06</Month><Day>08</Day></DateRevised><Article PubModel="Print"><Journal><ISSN IssnType="Electronic">1468-6244</ISSN><JournalIssue CitedMedium="Internet"><Volume>42</Volume><Issue>3</Issue><PubDate><Year>2005</Year><Month>Mar</Month></PubDate></JournalIssue><Title>Journal of medical genetics</Title><ISOAbbreviation>J. Med. Genet.</ISOAbbreviation></Journal><ArticleTitle>Linkage to the FOXC2 region of chromosome 16 for varicose veins in otherwise healthy, unselected sibling pairs.</ArticleTitle><Pagination><MedlinePgn>235-9</MedlinePgn></Pagination><Abstract><AbstractText Label="BACKGROUND" NlmCategory="BACKGROUND">The FOXC2 gene on 16q24 is mutated in lymphoedema distichiasis (LD), in which varicose veins (VV) are a common feature. We hypothesised that this gene might be implicated in the development of VV in the normal population, therefore, after performing a classical twin study, we tested for linkage and association in white women. We also tested for linkage with haemorrhoids (H), as a separate venous anomaly at the same locus.</AbstractText><AbstractText Label="METHODS" NlmCategory="METHODS">A total of 2060 complete female twin pairs aged 18-80 years from the St Thomas' Adult UK Twin registry replied to questions on VV and H as part of a broader postal survey of 6600 twins (62% response rate). Dizygotic female twin pairs were tested for linkage and association to the candidate marker D16S520 (1903 individuals genotyped), which is located about 80 kb from FOXC2.</AbstractText><AbstractText Label="RESULTS" NlmCategory="RESULTS">Casewise concordance rates were significantly higher for monozygotic than dizygotic twins for both phenotypes (VV 67% v 45%; p = 2.2x10(-6); H 68% v 59%; p = 0.01; H including during pregnancy 73% v 64%; p = 2.1x10(-4)), corresponding to additive genetic heritabilities in liability of 86% (95% confidence interval (CI) 73% to 99%) for VV and 56-61% for H (95% CI 43% to 73%). The presence of VV and H were significantly correlated. We found significant evidence of linkage to the marker for VV (MLS(ASP) = 1.37, p = 0.01; GLM(ASP/DSP) Z = 3.17 p = 0.002), but no association. Both linkage and association tests were negative for H. The combined phenotype of having VV and H did not show any evidence of linkage or association.</AbstractText><AbstractText Label="CONCLUSION" NlmCategory="CONCLUSIONS">These results demonstrate VV and H to be heritable, related conditions, and the data strongly suggest FOXC2 to be implicated in the development of VV in the general population.</AbstractText></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Ng</LastName><ForeName>M Y M</ForeName><Initials>MY</Initials><AffiliationInfo><Affiliation>Twin Research and Genetic Epidemiology Unit, St. Thomas' Hospital, London SE1 7EH.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Andrew</LastName><ForeName>T</ForeName><Initials>T</Initials></Author><Author ValidYN="Y"><LastName>Spector</LastName><ForeName>T D</ForeName><Initials>TD</Initials></Author><Author ValidYN="Y"><LastName>Jeffery</LastName><ForeName>S</ForeName><Initials>S</Initials></Author><Author ValidYN="Y"><CollectiveName>Lymphoedema Consortium</CollectiveName></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType><PublicationType UI="D013485">Research Support, Non-U.S. Gov't</PublicationType><PublicationType UI="D018486">Twin Study</PublicationType></PublicationTypeList></Article><MedlineJournalInfo><Country>England</Country><MedlineTA>J Med Genet</MedlineTA><NlmUniqueID>2985087R</NlmUniqueID><ISSNLinking>0022-2593</ISSNLinking></MedlineJournalInfo><ChemicalList><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D051858">Forkhead Transcription Factors</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="C082078">mesenchyme fork head 1 protein</NameOfSubstance></Chemical></ChemicalList><CitationSubset>IM</CitationSubset><CommentsCorrectionsList><CommentsCorrections RefType="Cites"><RefSource>Genes Dev. 1997 Apr 1;11(7):926-40</RefSource><PMID 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16</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D005260" MajorTopicYN="N">Female</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D051858" MajorTopicYN="N">Forkhead Transcription Factors</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D008040" MajorTopicYN="Y">Genetic Linkage</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D005820" MajorTopicYN="N">Genetic Testing</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D005838" MajorTopicYN="N">Genotype</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D006484" MajorTopicYN="N">Hemorrhoids</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D006801" MajorTopicYN="N">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D008875" MajorTopicYN="N">Middle Aged</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D010641" MajorTopicYN="N">Phenotype</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D018433" MajorTopicYN="N">Twin Studies as Topic</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D014648" MajorTopicYN="N">Varicose Veins</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading></MeshHeadingList><OtherID Source="NLM">PMC1736007</OtherID></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="pubmed"><Year>2005</Year><Month>3</Month><Day>4</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2006</Year><Month>4</Month><Day>1</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2005</Year><Month>3</Month><Day>4</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="pubmed">15744037</ArticleId><ArticleId IdType="pii">42/3/235</ArticleId><ArticleId IdType="doi">10.1136/jmg.2004.024075</ArticleId><ArticleId IdType="pmc">PMC1736007</ArticleId></ArticleIdList></PubmedData></pubmed><affiliations><list></list><tree><noCountry><name sortKey="Andrew, T" sort="Andrew, T" uniqKey="Andrew T" first="T" last="Andrew">T. Andrew</name><name sortKey="Jeffery, S" sort="Jeffery, S" uniqKey="Jeffery S" first="S" last="Jeffery">S. Jeffery</name><name sortKey="Ng, M Y M" sort="Ng, M Y M" uniqKey="Ng M" first="M Y M" last="Ng">M Y M. Ng</name><name sortKey="Spector, T D" sort="Spector, T D" uniqKey="Spector T" first="T D" last="Spector">T D Spector</name></noCountry></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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