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 <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.
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 <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.
UR - http://www.scopus.com/inward/record.url?scp=84925383159&partnerID=8YFLogxK
U2 - 10.1038/jid.2014.491
DO - 10.1038/jid.2014.491
M3 - Journal articles
C2 - 25407435
AN - SCOPUS:84925383159
SN - 0022-202X
VL - 135
SP - 1074
EP - 1079
JO - Journal of Investigative Dermatology
JF - Journal of Investigative Dermatology
IS - 4
ER -
