In:
Nature Communications, Springer Science and Business Media LLC, Vol. 6, No. 1 ( 2015-04-09)
Abstract:
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 × 10 −12 ), 2q33 CASP8-ALS2CR12 (rs13014235[C], OR=1.15, P =1.5 × 10 −9 ), 8q21 ZFHX4 (rs28727938[G], OR=0.70, P =3.5 × 10 −12 ) and 10p14 GATA3 (rs73635312[A] , OR=0.74, P =2.4 × 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.
Type of Medium:
Online Resource
ISSN:
2041-1723
Language:
English
Publisher:
Springer Science and Business Media LLC
Publication Date:
2015
detail.hit.zdb_id:
2553671-0
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