期刊
NATURE COMMUNICATIONS
卷 6, 期 -, 页码 -出版社
NATURE PUBLISHING GROUP
DOI: 10.1038/ncomms7825
关键词
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资金
- NCI\SAIC-Frederick, Inc. (SAIC-F) [10XS170]
- Roswell Park Cancer Institute [10XS171]
- Science Care Inc. [X10S172]
- Laboratory, Data Analysis and Coordinating Center (LDACC) [HHSN268201000029C]
- SAIC-F [10ST1035, HHSN261200800001E]
- Brain Bank [DA006227, DA033684, N01MH000028]
- University of Geneva [MH090941, MH101814]
- University of Chicago [MH090951, MH090937, MH101820, MH101825]
- University of North Carolina-Chapel Hill [MH090936, MH101819]
- Harvard University [MH090948]
- Stanford University [MH101782]
- Washington University St Louis [MH101810]
- University of Pennsylvania [MH101822]
In an ongoing screen for DNA sequence variants that confer risk of cutaneous basal cell carcinoma (BCC), we conduct a genome-wide association study (GWAS) of 24,988,228 SNPs and small indels detected through whole-genome sequencing of 2,636 Icelanders and imputed into 4,572 BCC patients and 266,358 controls. Here we show the discovery of four new BCC susceptibility loci: 2p24 MYCN (rs57244888[C], OR = 0.76, P = 4.7 x 10(-12)), 2q33 CASP8-ALS2CR12 (rs13014235[C], OR = 1.15, P = 1.5 x 10(-9)), 8q21 ZFHX4 (rs28727938[G], OR - 0.70, P - 3.5 x 10(-12)) and 10p14 GATA3 (rs73635312[A], OR - 0.74, P = 2.4 x 10(-16)). Fine mapping reveals that two variants correlated with rs73635312[A] occur in conserved binding sites for the GATA3 transcription factor. In addition, expression microarrays and RNA-seq show that rs13014235[C] and a related SNP rs700635[C] are associated with expression of CASP8 splice variants in which sequences from intron 8 are retained.
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