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

Shekar, SN, Duffy, DL, Youl, P, Baxter, AJ, Kvaskoff, M, Whiteman, DC, Green, AC, Hughes, MC, Hayward, NK, Coates, M and Martin, NG (2009) A Population-Based Study of Australian Twins with Melanoma Suggests a Strong Genetic Contribution to Liability. Journal of Investigative Dermatology, 129 9: 2211-2219. doi:10.1038/jid.2009.48


Author Shekar, SN
Duffy, DL
Youl, P
Baxter, AJ
Kvaskoff, M
Whiteman, DC
Green, AC
Hughes, MC
Hayward, NK
Coates, M
Martin, NG
Title A Population-Based Study of Australian Twins with Melanoma Suggests a Strong Genetic Contribution to Liability
Journal name Journal of Investigative Dermatology   Check publisher's open access policy
ISSN 0022-202X
Publication date 2009-09-01
Year available 2009
Sub-type Article (original research)
DOI 10.1038/jid.2009.48
Open Access Status Not yet assessed
Volume 129
Issue 9
Start page 2211
End page 2219
Total pages 9
Place of publication United Kingdom
Publisher Nature Publishing Group
Language eng
Subject C1
060411 Population, Ecological and Evolutionary Genetics
920499 Public Health (excl. Specific Population Health) not elsewhere classified
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-value0.04). 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.
Formatted 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.

Keyword CUTANEOUS MALIGNANT-MELANOMA
Q-Index Code C1
Q-Index Status Confirmed Code
Grant ID 870774
CA88363
Institutional Status UQ

Document type: Journal Article
Sub-type: Article (original research)
Collections: 2010 Higher Education Research Data Collection
School of Medicine Publications
 
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Created: Thu, 03 Sep 2009, 17:41:54 EST by Mr Andrew Martlew on behalf of Medicine - Royal Brisbane and Women's Hospital