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:

T Rafnar, P Sulem, SN Stacey, F Geller, J Gudmundsson, A Sigurdsson, M Jakobsdottir, H Helgadottir, S Thorlacius, KK Aben, T Blöndal, TE Thorgeirsson, G Thorleifsson, K Kristjansson, K Thorisdottir, R Ragnarsson, B Sigurgeirsson, H Skuladottir, T Gudbjartsson, HJ Isaksson, GV Einarsson, KR Benediktsdottir, BA Agnarsson, K Olafsson, A Salvarsdottir, H Bjarnason, M Asgeirsdottir, KT Kristinsson, S Matthiasdottir, SG Sveinsdottir, S Polidoro, V Höiom, R Botella-Estrada, K Hemminki, P Rudnai, DT Bishop, M Campagna, E Kellen, MP Zeegers, P de Verdier, A Ferrer, D Isla, MJ Vidal, R Andres, B Saez, P Juberias, J Banzo, S Navarrete, A Tres, D Kan, A Lindblom, E Gurzau, K Koppova, F de Vegt, JA Schalken, HF van der Heijden, HJ Smit, RA Termeer, E Oosterwijk, O van Hooij, E Nagore, S Porru, G Steineck, J Hansson, F Buntinx, WJ Catalona, G Matullo, P Vineis, AE Kiltie, JI Mayordomo, R Kumar, LA Kiemeney, ML Frigge, T Jonsson, H Saemundsson, RB Barkardottir, E Jonsson, S Jonsson, JH Olafsson, JR Gulcher, G Masson, DF Gudbjartsson, A Kong, U Thorsteinsdottir, K Stefansson

TITLE:

Sequence variants at the TERT-CLPTM1L locus associate with many cancer types.

JOURNAL:

Nature genetics Feb 2009, Vol 41, pp. 221-7

ABSTRACT:

The common sequence variants that have recently been associated with cancer risk are particular to a single cancer type or at most two. Following up on our genome-wide scan of basal cell carcinoma, we found that rs401681[C] on chromosome 5p15.33 satisfied our threshold for genome-wide significance (OR = 1.25, P = 3.7 x 10(-12)). We tested rs401681 for association with 16 additional cancer types in over 30,000 cancer cases and 45,000 controls and found association with lung cancer (OR = 1.15, P = 7.2 x 10(-8)) and urinary bladder, prostate and cervix cancer (ORs = 1.07-1.31, all P < 4 x 10(-4)). However, rs401681[C] seems to confer protection against cutaneous melanoma (OR = 0.88, P = 8.0 x 10(-4)). Notably, most of these cancer types have a strong environmental component to their risk. Investigation of the region led us to rs2736098[A], which showed stronger association with some cancer types. However, neither variant could fully account for the association of the other. rs2736098 corresponds to A305A in the telomerase reverse transcriptase (TERT) protein and rs401681 is in an intron of the CLPTM1L gene. PUBMED: 19151717
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