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题目:: Genome-wide association study identifies three new melanoma susceptibility loci.
作者:: Barrett(Jennifer H),Iles(Mark M),Harland(Mark),Taylor(John C),Aitken(Joanne F),Andresen(Per Arne),Akslen(Lars A),Armstrong(Bruce K),Avril(Marie-Francoise),Azizi(Esther),Bakker(Bert),Bergman(Wilma),Bianchi-Scarrà(Giovanna),Bressac-de Paillerets(Brigitte),Calista(Donato),Cannon-Albright(Lisa A),Corda(Eve),Cust(Anne E),Dębniak(Tadeusz),Duffy(David),Dunning(Alison M),Easton(Douglas F),Friedman(Eitan),Galan(Pilar),Ghiorzo(Paola),Giles(Graham G),Hansson(Johan),Hocevar(Marko),Höiom(Veronica),Hopper(John L),Ingvar(Christian),Janssen(Bart),Jenkins(Mark A),Jönsson(Göran),Kefford(Richard F),Landi(Giorgio),Landi(Maria Teresa),Lang(Julie),Lubiński(Jan),Mackie(Rona),Malvehy(Josep),Martin(Nicholas G),Molven(Anders),Montgomery(Grant W),van Nieuwpoort(Frans A),Novakovic(Srdjan),Olsson(Håkan),Pastorino(Lorenza),Puig(Susana),Puig-Butille(Joan Anton),Randerson-Moor(Juliette),Snowden(Helen),Tuominen(Rainer),Van Belle(Patricia),van der Stoep(Nienke),Whiteman(David C),Zelenika(Diana),Han(Jiali),Fang(Shenying),Lee(Jeffrey E),Wei(Qingyi),Lathrop(G Mark),Gillanders(Elizabeth M),Brown(Kevin M),Goldstein(Alisa M),Kanetsky(Peter A),Mann(Graham J),Macgregor(Stuart),Elder(David E),Amos(Christopher I),Hayward(Nicholas K),Gruis(Nelleke A),Demenais(Florence),Bishop(Julia A Newton),Bishop(D Timothy),
状态:: 发布时间2011-10-27 , 更新时间 2016-11-22
期刊:: Nat Genet
摘要:: We report a genome-wide association study for melanoma that was conducted by the GenoMEL Consortium. Our discovery phase included 2,981 individuals with melanoma and 1,982 study-specific control individuals of European ancestry, as well as an additional 6,426 control subjects from French or British populations, all of whom were genotyped for 317,000 or 610,000 single-nucleotide polymorphisms (SNPs). Our analysis replicated previously known melanoma susceptibility loci. Seven new regions with at least one SNP with P < 10(-5) and further local imputed or genotyped support were selected for replication using two other genome-wide studies (from Australia and Texas, USA). Additional replication came from case-control series from the UK and The Netherlands. Variants at three of the seven loci replicated at P < 10(-3): an SNP in ATM (rs1801516, overall P = 3.4 × 10(-9)), an SNP in MX2 (rs45430, P = 2.9 × 10(-9)) and an SNP adjacent to CASP8 (rs13016963, P = 8.6 × 10(-10)). A fourth locus near CCND1 remains of potential interest, showing suggestive but inconclusive evidence of replication (rs1485993, overall P = 4.6 × 10(-7) under a fixed-effects model and P = 1.2 × 10(-3) under a random-effects model). These newly associated variants showed no association with nevus or pigmentation phenotypes in a large British case-control series.
语言:: eng
DOI:

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