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, P Sulem, DF Gudbjartsson, A Jonasdottir, G Thorleifsson, SA Gudjonsson, G Masson, J Gudmundsson, B Sigurgeirsson, KR Benediktsdottir, K Thorisdottir, R Ragnarsson, V Fuentelsaz, C Corredera, M Grasa, D Planelles, O Sanmartin, P Rudnai, E Gurzau, K Koppova, K Hemminki, BA Nexø, A Tjønneland, K Overvad, H Johannsdottir, HT Helgadottir, U Thorsteinsdottir, A Kong, U Vogel, R Kumar, E Nagore, JI Mayordomo, T Rafnar, JH Olafsson, K Stefansson

TITLE:

Germline sequence variants in TGM3 and RGS22 confer risk of basal cell carcinoma.

JOURNAL:

Human molecular genetics Jun 2014, Vol 23, pp. 3045-53

ABSTRACT:

To search for new sequence variants that confer risk of cutaneous basal cell carcinoma (BCC), we conducted a genome-wide association study of 38.5 million single nucleotide polymorphisms (SNPs) and small indels identified through whole-genome sequencing of 2230 Icelanders. We imputed genotypes for 4208 BCC patients and 109 408 controls using Illumina SNP chip typing data, carried out association tests and replicated the findings in independent population samples. We found new BCC susceptibility loci at TGM3 (rs214782[G], P = 5.5 × 10(-17), OR = 1.29) and RGS22 (rs7006527[C], P = 8.7 × 10(-13), OR = 0.77). TGM3 encodes transglutaminase type 3, which plays a key role in production of the cornified envelope during epidermal differentiation. PUBMED: 24403052
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