Updated field synopsis and systematic meta-analyses of genetic association studies in cutaneous melanoma: The MelGene Database

Kyriaki Antonopoulou; Irene Stefanaki; Christina M. Lill; Foteini Chatzinasiou; Katerina P. Kypreou; Fani Karagianni; Emmanouil Athanasiadis; George M. Spyrou; John P.A. Ioannidis; Lars Bertram; Evangelos Evangelou; Alexander J. Stratigos

doi:10.1038/jid.2014.491

Updated field synopsis and systematic meta-analyses of genetic association studies in cutaneous melanoma: The MelGene Database

Kyriaki Antonopoulou, Irene Stefanaki, Christina M. Lill, Foteini Chatzinasiou, Katerina P. Kypreou, Fani Karagianni, Emmanouil Athanasiadis, George M. Spyrou, John P.A. Ioannidis, Lars Bertram, Evangelos Evangelou, Alexander J. Stratigos^*

^*Corresponding author for this work

34 Citations (Scopus)

Abstract

We updated a field synopsis of genetic associations of cutaneous melanoma (CM) by systematically retrieving and combining data from all studies in the field published as of August 31, 2013. Data were available from 197 studies, which included 83,343 CM cases and 187,809 controls and reported on 1,126 polymorphisms in 289 different genes. Random-effects meta-analyses of 81 eligible polymorphisms evaluated in >4 data sets confirmed 20 single-nucleotide polymorphisms across 10 loci (TYR, AFG3L1P, CDK10, MYH7B, SLC45A2, MTAP, ATM, CLPTM1L, FTO, and CASP8) that have previously been published with genome-wide significant evidence for association (P<5 × 10^-8) with CM risk, with certain variants possibly functioning as proxies of already tagged genes. Four other loci (MITF, CCND1, MX2, and PLA2G6) were also significantly associated with 5 × 10^-8 <P<1 × 10^-3. In supplementary meta-analyses derived from genome-wide association studies, one additional locus located 11 kb upstream of ARNT (chromosome 1q21) showed genome-wide statistical significance with CM. Our approach serves as a useful model in analyzing and integrating the reported germline alterations involved in CM.

Original language	English
Journal	Journal of Investigative Dermatology
Volume	135
Issue number	4
Pages (from-to)	1074-1079
Number of pages	6
ISSN	0022-202X
DOIs	https://doi.org/10.1038/jid.2014.491
Publication status	Published - 20.04.2015

Funding

The present work was funded by the Aristeia Program. This program is co-funded by the European Social Fund and National Resources (project code: 1094). The funders had no role in the study design, data collection and analysis, decision to publish, or preparation of the manuscript.

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

SDG 3 Good Health and Well-being
SDG 10 Reduced Inequalities

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10.1038/jid.2014.491

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Antonopoulou, K., Stefanaki, I., Lill, C. M., Chatzinasiou, F., Kypreou, K. P., Karagianni, F., Athanasiadis, E., Spyrou, G. M., Ioannidis, J. P. A., Bertram, L., Evangelou, E., & Stratigos, A. J. (2015). Updated field synopsis and systematic meta-analyses of genetic association studies in cutaneous melanoma: The MelGene Database. Journal of Investigative Dermatology, 135(4), 1074-1079. https://doi.org/10.1038/jid.2014.491

@article{a58810da919c4e1690729b9421a51480,

title = "Updated field synopsis and systematic meta-analyses of genetic association studies in cutaneous melanoma: The MelGene Database",

abstract = "We updated a field synopsis of genetic associations of cutaneous melanoma (CM) by systematically retrieving and combining data from all studies in the field published as of August 31, 2013. Data were available from 197 studies, which included 83,343 CM cases and 187,809 controls and reported on 1,126 polymorphisms in 289 different genes. Random-effects meta-analyses of 81 eligible polymorphisms evaluated in >4 data sets confirmed 20 single-nucleotide polymorphisms across 10 loci (TYR, AFG3L1P, CDK10, MYH7B, SLC45A2, MTAP, ATM, CLPTM1L, FTO, and CASP8) that have previously been published with genome-wide significant evidence for association (P<5 × 10-8) with CM risk, with certain variants possibly functioning as proxies of already tagged genes. Four other loci (MITF, CCND1, MX2, and PLA2G6) were also significantly associated with 5 × 10-8 -3. In supplementary meta-analyses derived from genome-wide association studies, one additional locus located 11 kb upstream of ARNT (chromosome 1q21) showed genome-wide statistical significance with CM. Our approach serves as a useful model in analyzing and integrating the reported germline alterations involved in CM.",

author = "Kyriaki Antonopoulou and Irene Stefanaki and Lill, \{Christina M.\} and Foteini Chatzinasiou and Kypreou, \{Katerina P.\} and Fani Karagianni and Emmanouil Athanasiadis and Spyrou, \{George M.\} and Ioannidis, \{John P.A.\} and Lars Bertram and Evangelos Evangelou and Stratigos, \{Alexander J.\}",

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doi = "10.1038/jid.2014.491",

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Antonopoulou, K, Stefanaki, I, Lill, CM, Chatzinasiou, F, Kypreou, KP, Karagianni, F, Athanasiadis, E, Spyrou, GM, Ioannidis, JPA, Bertram, L, Evangelou, E & Stratigos, AJ 2015, 'Updated field synopsis and systematic meta-analyses of genetic association studies in cutaneous melanoma: The MelGene Database', Journal of Investigative Dermatology, vol. 135, no. 4, pp. 1074-1079. https://doi.org/10.1038/jid.2014.491

TY - JOUR

T1 - Updated field synopsis and systematic meta-analyses of genetic association studies in cutaneous melanoma: The MelGene Database

AU - Antonopoulou, Kyriaki

AU - Stefanaki, Irene

AU - Lill, Christina M.

AU - Chatzinasiou, Foteini

AU - Kypreou, Katerina P.

AU - Karagianni, Fani

AU - Athanasiadis, Emmanouil

AU - Spyrou, George M.

AU - Ioannidis, John P.A.

AU - Bertram, Lars

AU - Evangelou, Evangelos

AU - Stratigos, Alexander J.

PY - 2015/4/20

Y1 - 2015/4/20

N2 - We updated a field synopsis of genetic associations of cutaneous melanoma (CM) by systematically retrieving and combining data from all studies in the field published as of August 31, 2013. Data were available from 197 studies, which included 83,343 CM cases and 187,809 controls and reported on 1,126 polymorphisms in 289 different genes. Random-effects meta-analyses of 81 eligible polymorphisms evaluated in >4 data sets confirmed 20 single-nucleotide polymorphisms across 10 loci (TYR, AFG3L1P, CDK10, MYH7B, SLC45A2, MTAP, ATM, CLPTM1L, FTO, and CASP8) that have previously been published with genome-wide significant evidence for association (P<5 × 10-8) with CM risk, with certain variants possibly functioning as proxies of already tagged genes. Four other loci (MITF, CCND1, MX2, and PLA2G6) were also significantly associated with 5 × 10-8 -3. In supplementary meta-analyses derived from genome-wide association studies, one additional locus located 11 kb upstream of ARNT (chromosome 1q21) showed genome-wide statistical significance with CM. Our approach serves as a useful model in analyzing and integrating the reported germline alterations involved in CM.

AB - We updated a field synopsis of genetic associations of cutaneous melanoma (CM) by systematically retrieving and combining data from all studies in the field published as of August 31, 2013. Data were available from 197 studies, which included 83,343 CM cases and 187,809 controls and reported on 1,126 polymorphisms in 289 different genes. Random-effects meta-analyses of 81 eligible polymorphisms evaluated in >4 data sets confirmed 20 single-nucleotide polymorphisms across 10 loci (TYR, AFG3L1P, CDK10, MYH7B, SLC45A2, MTAP, ATM, CLPTM1L, FTO, and CASP8) that have previously been published with genome-wide significant evidence for association (P<5 × 10-8) with CM risk, with certain variants possibly functioning as proxies of already tagged genes. Four other loci (MITF, CCND1, MX2, and PLA2G6) were also significantly associated with 5 × 10-8 -3. In supplementary meta-analyses derived from genome-wide association studies, one additional locus located 11 kb upstream of ARNT (chromosome 1q21) showed genome-wide statistical significance with CM. Our approach serves as a useful model in analyzing and integrating the reported germline alterations involved in CM.

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JO - Journal of Investigative Dermatology

JF - Journal of Investigative Dermatology

IS - 4

ER -

Updated field synopsis and systematic meta-analyses of genetic association studies in cutaneous melanoma: The MelGene Database

Abstract

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