A population based study of Australian twins with melanoma suggests a strong genetic contribution to liability
Identifieur interne : 008349 ( Main/Merge ); précédent : 008348; suivant : 008350A population based study of Australian twins with melanoma suggests a strong genetic contribution to liability
Auteurs : Sri Niranjan Shekar [Australie] ; David Lorenzo Duffy [Australie] ; Philippa Youl [Australie] ; Amanda Jane Baxter [Australie] ; Marina Kvaskoff [Australie, France] ; David Carlisle Whiteman [Australie] ; Adèle Chandler Green [Australie] ; Maria Celia Hughes [Australie] ; Nicholas Kim Hayward [Australie] ; Marylon Coates [Australie] ; Nicholas Gordon Martin [Australie]Source :
- The Journal of investigative dermatology [ 0022-202X ] ; 2009.
Abstract
Melanoma runs within families, but this may be due to shared genetic or shared environmental influences within those families. The concordance between pairs of non-identical compared to the concordance of identical twins can be used to determine whether familial aggregation is due to genetic or environmental factors. Mandatory reporting of melanoma cases within the state of Queensland yielded approximately 12,000 cases between 1982 and 1990. Twins in this study and from the adjacent state of New South Wales (125 pairs in total) were used to partition variation in liability to melanoma into genetic and environmental factors. Identical twins were more concordant for melanoma (4 of 27 pairs) than non-identical twins (3 of 98 pairs; p-value ≈ 0.04). Identical co-twins of affected individuals were 9.8 times more likely to be affected than by chance. However, non-identical co-twins of affected individuals were only 1.8 times more likely to be affected than by chance. An MZ:DZ recurrence risk ratio of 5.6 suggests that some of the genetic influences on melanoma are due to epistatic (gene-gene) interactions. Using these data and population prevalences, it was estimated that 55% of variation in liability to melanoma is due to genetic influences.
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DOI: 10.1038/jid.2009.48
PubMed: 19357710
PubMed Central: 3672052
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Queensland</wicri:regionArea><wicri:noRegion>Queensland</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:aff id="A2">School of Medicine, University of Queensland, Brisbane, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>School of Medicine, University of Queensland, Brisbane</wicri:regionArea><wicri:noRegion>Brisbane</wicri:noRegion></affiliation></author><author><name sortKey="Duffy, David Lorenzo" sort="Duffy, David Lorenzo" uniqKey="Duffy D" first="David Lorenzo" last="Duffy">David Lorenzo Duffy</name><affiliation wicri:level="1"><nlm:aff id="A1">Queensland Institute of Medical Research, Brisbane, Queensland, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>Queensland Institute of Medical Research, Brisbane, Queensland</wicri:regionArea><wicri:noRegion>Queensland</wicri:noRegion></affiliation></author><author><name sortKey="Youl, Philippa" sort="Youl, Philippa" uniqKey="Youl P" first="Philippa" last="Youl">Philippa Youl</name><affiliation wicri:level="1"><nlm:aff id="A3">The Cancer Council Queensland, Brisbane, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>The Cancer Council Queensland, Brisbane</wicri:regionArea><wicri:noRegion>Brisbane</wicri:noRegion></affiliation></author><author><name sortKey="Baxter, Amanda Jane" sort="Baxter, Amanda Jane" uniqKey="Baxter A" first="Amanda Jane" last="Baxter">Amanda Jane Baxter</name><affiliation wicri:level="1"><nlm:aff id="A1">Queensland Institute of Medical Research, Brisbane, Queensland, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>Queensland Institute of Medical Research, Brisbane, Queensland</wicri:regionArea><wicri:noRegion>Queensland</wicri:noRegion></affiliation></author><author><name sortKey="Kvaskoff, Marina" sort="Kvaskoff, Marina" uniqKey="Kvaskoff M" first="Marina" last="Kvaskoff">Marina Kvaskoff</name><affiliation wicri:level="1"><nlm:aff id="A1">Queensland Institute of Medical Research, Brisbane, Queensland, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>Queensland Institute of Medical Research, Brisbane, Queensland</wicri:regionArea><wicri:noRegion>Queensland</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:aff id="A4">Inserm, (Institut National de la Santé et de la Recherche Médicale), ERI 20, EA 4045, and Institut Gustave Roussy, Villejuif, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>Inserm, (Institut National de la Santé et de la Recherche Médicale), ERI 20, EA 4045, and Institut Gustave Roussy, Villejuif</wicri:regionArea><wicri:noRegion>Villejuif</wicri:noRegion><wicri:noRegion>Villejuif</wicri:noRegion></affiliation></author><author><name sortKey="Whiteman, David Carlisle" sort="Whiteman, David Carlisle" uniqKey="Whiteman D" first="David Carlisle" last="Whiteman">David Carlisle Whiteman</name><affiliation wicri:level="1"><nlm:aff id="A1">Queensland Institute of Medical Research, Brisbane, Queensland, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>Queensland Institute of Medical Research, Brisbane, Queensland</wicri:regionArea><wicri:noRegion>Queensland</wicri:noRegion></affiliation></author><author><name sortKey="Green, Adele Chandler" sort="Green, Adele Chandler" uniqKey="Green A" first="Adèle Chandler" last="Green">Adèle Chandler Green</name><affiliation wicri:level="1"><nlm:aff id="A1">Queensland Institute of Medical Research, Brisbane, Queensland, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>Queensland Institute of Medical Research, Brisbane, Queensland</wicri:regionArea><wicri:noRegion>Queensland</wicri:noRegion></affiliation></author><author><name sortKey="Hughes, Maria Celia" sort="Hughes, Maria Celia" uniqKey="Hughes M" first="Maria Celia" last="Hughes">Maria Celia Hughes</name><affiliation wicri:level="1"><nlm:aff id="A1">Queensland Institute of Medical Research, Brisbane, Queensland, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>Queensland Institute of Medical Research, Brisbane, Queensland</wicri:regionArea><wicri:noRegion>Queensland</wicri:noRegion></affiliation></author><author><name sortKey="Hayward, Nicholas Kim" sort="Hayward, Nicholas Kim" uniqKey="Hayward N" first="Nicholas Kim" last="Hayward">Nicholas Kim Hayward</name><affiliation wicri:level="1"><nlm:aff id="A1">Queensland Institute of Medical Research, Brisbane, Queensland, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>Queensland Institute of Medical Research, Brisbane, Queensland</wicri:regionArea><wicri:noRegion>Queensland</wicri:noRegion></affiliation></author><author><name sortKey="Coates, Marylon" sort="Coates, Marylon" uniqKey="Coates M" first="Marylon" last="Coates">Marylon Coates</name><affiliation wicri:level="3"><nlm:aff id="A5">The NSW Central Cancer Registry, Sydney, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>The NSW Central Cancer Registry, Sydney</wicri:regionArea><placeName><settlement type="city">Sydney</settlement><region type="état">Nouvelle-Galles du Sud</region></placeName></affiliation></author><author><name sortKey="Martin, Nicholas Gordon" sort="Martin, Nicholas Gordon" uniqKey="Martin N" first="Nicholas Gordon" last="Martin">Nicholas Gordon Martin</name><affiliation wicri:level="1"><nlm:aff id="A1">Queensland Institute of Medical Research, Brisbane, Queensland, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>Queensland Institute of Medical Research, Brisbane, Queensland</wicri:regionArea><wicri:noRegion>Queensland</wicri:noRegion></affiliation></author></analytic><series><title level="j">The Journal of investigative dermatology</title><idno type="ISSN">0022-202X</idno><idno type="eISSN">1523-1747</idno><imprint><date when="2009">2009</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p id="P1">Melanoma runs within families, but this may be due to shared genetic or shared environmental influences within those families. The concordance between pairs of non-identical compared to the concordance of identical twins can be used to determine whether familial aggregation is due to genetic or environmental factors. Mandatory reporting of melanoma cases within the state of Queensland yielded approximately 12,000 cases between 1982 and 1990. Twins in this study and from the adjacent state of New South Wales (125 pairs in total) were used to partition variation in liability to melanoma into genetic and environmental factors. Identical twins were more concordant for melanoma (4 of 27 pairs) than non-identical twins (3 of 98 pairs; p-value ≈ 0.04). Identical co-twins of affected individuals were 9.8 times more likely to be affected than by chance. However, non-identical co-twins of affected individuals were only 1.8 times more likely to be affected than by chance. An MZ:DZ recurrence risk ratio of 5.6 suggests that some of the genetic influences on melanoma are due to epistatic (gene-gene) interactions. Using these data and population prevalences, it was estimated that 55% of variation in liability to melanoma is due to genetic influences.</p></div></front></TEI></record>Pour manipuler ce document sous Unix (Dilib)
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