A study based on whole-genome sequencing yields a rare variant at 8q24 associated with prostate cancer

In Western countries, prostate cancer is the most prevalent cancer of men and one of the leading causes of cancer-related death in men. Several genome-wide association studies have yielded numerous common variants conferring risk of prostate cancer. Here, we analyzed 32.5 million variants discovered...

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Những tác giả chính: Gudmundsson, J, Sulem, P, Gudbjartsson, D, Masson, G, Agnarsson, B, Benediktsdottir, K, Sigurdsson, A, Magnusson, O, Gudjonsson, SA, Magnusdottir, D, Johannsdottir, H, Helgadottir, H, Stacey, SN, Jonasdottir, A, Olafsdottir, S, Thorleifsson, G, Jonasson, J, Tryggvadottir, L, Navarrete, S, Fuertes, F
Định dạng: Journal article
Được phát hành: 2012
Miêu tả
Tóm tắt:In Western countries, prostate cancer is the most prevalent cancer of men and one of the leading causes of cancer-related death in men. Several genome-wide association studies have yielded numerous common variants conferring risk of prostate cancer. Here, we analyzed 32.5 million variants discovered by whole-genome sequencing 1,795 Icelanders. We identified a new low-frequency variant at 8q24 associated with prostate cancer in European populations, rs188140481[A] (odds ratio (OR) = 2.90; P combined = 6.2 × 10-34), with an average risk allele frequency in controls of 0.54%. This variant is only very weakly correlated (r 2 ≤ 0.06) with previously reported risk variants at 8q24, and its association remains significant after adjustment for all known risk-associated variants. Carriers of rs188140481[A] were diagnosed with prostate cancer 1.26 years younger than non-carriers (P = 0.0059). We also report results for a previously described HOXB13 variant (rs138213197[T]), confirming it as a prostate cancer risk variant in populations from across Europe. © 2012 Nature America, Inc. All rights reserved.