DESCRIPTION:

List of positional candidate genes after correcting for multiple testing and controlling the false discovery rate from genome wide association studies (GWAS) retrieved from the NHGRI-EBI Catalog of published genome-wide association studies (http://www.ebi.ac.uk/gwas/). The disease/trait examined in this study, as reported by the authors, was Basal cell carcinoma. The EFO term basal cell carcinoma was annotated to this set after curation by NHGRI-EBI. Intergenic SNPS were mapped to both the upstream and downstream gene. P-value uploaded. This gene set was generated using gwas2gs v. 0.1.8 and the GWAS Catalog v. 1.0.1.

LABEL:

GWAS: basal cell carcinoma

SCORE TYPE:

P-Value

DATE ADDED:

2017-05-02

DATE UPDATED:

2024-04-25

SPECIES:

AUTHORS:

SN Stacey, H Helgason, SA Gudjonsson, G Thorleifsson, F Zink, A Sigurdsson, B Kehr, J Gudmundsson, P Sulem, B Sigurgeirsson, KR Benediktsdottir, K Thorisdottir, R Ragnarsson, V Fuentelsaz, C Corredera, Y Gilaberte, M Grasa, D Planelles, O Sanmartin, P Rudnai, E Gurzau, K Koppova, BA Nexø, A Tjønneland, K Overvad, JG Jonasson, L Tryggvadottir, H Johannsdottir, AM Kristinsdottir, H Stefansson, G Masson, OT Magnusson, BV Halldorsson, A Kong, T Rafnar, U Thorsteinsdottir, U Vogel, R Kumar, E Nagore, JI Mayordomo, DF Gudbjartsson, JH Olafsson, K Stefansson

TITLE:

New basal cell carcinoma susceptibility loci.

JOURNAL:

Nature communications Apr 2015, Vol 6, pp. 6825

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. PUBMED: 25855136
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