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A Population-Based Study of Australian Twins with Melanoma Suggests a Strong Genetic Contribution to Liability

Identifieur interne : 008510 ( Main/Exploration ); précédent : 008509; suivant : 008511

A Population-Based Study of Australian Twins with Melanoma Suggests a Strong Genetic Contribution to Liability

Auteurs : Sri N. Shekar [Australie] ; David L. Duffy [Australie] ; Philippa Youl [Australie] ; Amanda J. Baxter [Australie] ; Marina Kvaskoff [Australie, France] ; David C. Whiteman [Australie] ; Adèle C. Green [Australie] ; Maria C. Hughes [Australie] ; Nicholas K. Hayward [Australie] ; Marylon Coates [Australie] ; Nicholas G. Martin [Australie]

Source :

RBID : Pascal:09-0384984

Descripteurs français

English descriptors

Abstract

Melanoma runs within families, but this may be due to either shared genetic or shared environmental influences within those families. The concordance between pairs of non-identical twins compared to that between identical twins can be used to determine whether familial aggregation is due to genetic or environmental factors. Mandatory reporting of melanoma cases in 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 the variation in liability to melanoma is due to genetic influences.

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<title xml:lang="en" level="a">A Population-Based Study of Australian Twins with Melanoma Suggests a Strong Genetic Contribution to Liability</title>
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<sZ>1 aut.</sZ>
<sZ>2 aut.</sZ>
<sZ>4 aut.</sZ>
<sZ>5 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>7 aut.</sZ>
<sZ>8 aut.</sZ>
<sZ>9 aut.</sZ>
<sZ>11 aut.</sZ>
</inist:fA14>
<country>Australie</country>
<wicri:noRegion>Queensland Institute of Medical Research</wicri:noRegion>
</affiliation>
</author>
</analytic>
<series>
<title level="j" type="main">Journal of investigative dermatology</title>
<title level="j" type="abbreviated">J. invest. dermatol.</title>
<idno type="ISSN">0022-202X</idno>
<imprint>
<date when="2009">2009</date>
</imprint>
</series>
</biblStruct>
</sourceDesc>
<seriesStmt>
<title level="j" type="main">Journal of investigative dermatology</title>
<title level="j" type="abbreviated">J. invest. dermatol.</title>
<idno type="ISSN">0022-202X</idno>
</seriesStmt>
</fileDesc>
<profileDesc>
<textClass>
<keywords scheme="KwdEn" xml:lang="en">
<term>Australia</term>
<term>Dermatology</term>
<term>Malignant melanoma</term>
<term>Twin</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr">
<term>Mélanome malin</term>
<term>Australie</term>
<term>Jumeau</term>
<term>Dermatologie</term>
</keywords>
<keywords scheme="Wicri" type="geographic" xml:lang="fr">
<term>Australie</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front>
<div type="abstract" xml:lang="en">Melanoma runs within families, but this may be due to either shared genetic or shared environmental influences within those families. The concordance between pairs of non-identical twins compared to that between identical twins can be used to determine whether familial aggregation is due to genetic or environmental factors. Mandatory reporting of melanoma cases in 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 the variation in liability to melanoma is due to genetic influences.</div>
</front>
</TEI>
<affiliations>
<list>
<country>
<li>Australie</li>
<li>France</li>
</country>
</list>
<tree>
<country name="Australie">
<noRegion>
<name sortKey="Shekar, Sri N" sort="Shekar, Sri N" uniqKey="Shekar S" first="Sri N." last="Shekar">Sri N. Shekar</name>
</noRegion>
<name sortKey="Baxter, Amanda J" sort="Baxter, Amanda J" uniqKey="Baxter A" first="Amanda J." last="Baxter">Amanda J. Baxter</name>
<name sortKey="Coates, Marylon" sort="Coates, Marylon" uniqKey="Coates M" first="Marylon" last="Coates">Marylon Coates</name>
<name sortKey="Duffy, David L" sort="Duffy, David L" uniqKey="Duffy D" first="David L." last="Duffy">David L. Duffy</name>
<name sortKey="Green, Adele C" sort="Green, Adele C" uniqKey="Green A" first="Adèle C." last="Green">Adèle C. Green</name>
<name sortKey="Hayward, Nicholas K" sort="Hayward, Nicholas K" uniqKey="Hayward N" first="Nicholas K." last="Hayward">Nicholas K. Hayward</name>
<name sortKey="Hughes, Maria C" sort="Hughes, Maria C" uniqKey="Hughes M" first="Maria C." last="Hughes">Maria C. Hughes</name>
<name sortKey="Kvaskoff, Marina" sort="Kvaskoff, Marina" uniqKey="Kvaskoff M" first="Marina" last="Kvaskoff">Marina Kvaskoff</name>
<name sortKey="Martin, Nicholas G" sort="Martin, Nicholas G" uniqKey="Martin N" first="Nicholas G." last="Martin">Nicholas G. Martin</name>
<name sortKey="Shekar, Sri N" sort="Shekar, Sri N" uniqKey="Shekar S" first="Sri N." last="Shekar">Sri N. Shekar</name>
<name sortKey="Whiteman, David C" sort="Whiteman, David C" uniqKey="Whiteman D" first="David C." last="Whiteman">David C. Whiteman</name>
<name sortKey="Youl, Philippa" sort="Youl, Philippa" uniqKey="Youl P" first="Philippa" last="Youl">Philippa Youl</name>
</country>
<country name="France">
<noRegion>
<name sortKey="Kvaskoff, Marina" sort="Kvaskoff, Marina" uniqKey="Kvaskoff M" first="Marina" last="Kvaskoff">Marina Kvaskoff</name>
</noRegion>
<name sortKey="Kvaskoff, Marina" sort="Kvaskoff, Marina" uniqKey="Kvaskoff M" first="Marina" last="Kvaskoff">Marina Kvaskoff</name>
</country>
</tree>
</affiliations>
</record>

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