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全基因组关联研究在日本人群中发现了 12 个前列腺癌的新易感性位点。

12 new susceptibility loci for prostate cancer identified by genome-wide association study in Japanese population.

机构信息

Department of Urology, Iwate Medical University, Morioka, 020-8505, Japan.

Laboratory for Cancer Genomics, RIKEN Center for Integrative Medical Sciences, Yokohama, 230-0045, Japan.

出版信息

Nat Commun. 2019 Sep 27;10(1):4422. doi: 10.1038/s41467-019-12267-6.

Abstract

Genome-wide association studies (GWAS) have identified ~170 genetic loci associated with prostate cancer (PCa) risk, but most of them were identified in European populations. We here performed a GWAS and replication study using a large Japanese cohort (9,906 cases and 83,943 male controls) to identify novel susceptibility loci associated with PCa risk. We found 12 novel loci for PCa including rs1125927 (TMEM17, P = 3.95 × 10), rs73862213 (GATA2, P = 5.87 × 10), rs77911174 (ZMIZ1, P = 5.28 × 10), and rs138708 (SUN2, P = 1.13 × 10), seven of which had crucially low minor allele frequency in European population. Furthermore, we stratified the polygenic risk for Japanese PCa patients by using 82 SNPs, which were significantly associated with Japanese PCa risk in our study, and found that early onset cases and cases with family history of PCa were enriched in the genetically high-risk population. Our study provides important insight into genetic mechanisms of PCa and facilitates PCa risk stratification in Japanese population.

摘要

全基因组关联研究(GWAS)已经确定了约 170 个与前列腺癌(PCa)风险相关的遗传位点,但其中大多数是在欧洲人群中发现的。我们在这里使用一个大型的日本队列(9906 例病例和 83943 名男性对照)进行 GWAS 和复制研究,以确定与 PCa 风险相关的新的易感位点。我们发现了 12 个与 PCa 相关的新位点,包括 rs1125927(TMEM17,P=3.95×10)、rs73862213(GATA2,P=5.87×10)、rs77911174(ZMIZ1,P=5.28×10)和 rs138708(SUN2,P=1.13×10),其中 7 个在欧洲人群中的次要等位基因频率极低。此外,我们使用与我们的研究中与日本 PCa 风险显著相关的 82 个 SNP 对日本 PCa 患者的多基因风险进行分层,发现早发性病例和有 PCa 家族史的病例在遗传高风险人群中更为富集。我们的研究为 PCa 的遗传机制提供了重要的见解,并有助于日本人群中 PCa 的风险分层。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1464/6764957/6bb8043b3388/41467_2019_12267_Fig1_HTML.jpg

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本文引用的文献

1
Global cancer statistics 2018: GLOBOCAN estimates of incidence and mortality worldwide for 36 cancers in 185 countries.
CA Cancer J Clin. 2018 Nov;68(6):394-424. doi: 10.3322/caac.21492. Epub 2018 Sep 12.
2
Genome-wide polygenic scores for common diseases identify individuals with risk equivalent to monogenic mutations.
Nat Genet. 2018 Sep;50(9):1219-1224. doi: 10.1038/s41588-018-0183-z. Epub 2018 Aug 13.
3
Association analyses of more than 140,000 men identify 63 new prostate cancer susceptibility loci.
Nat Genet. 2018 Jul;50(7):928-936. doi: 10.1038/s41588-018-0142-8. Epub 2018 Jun 11.
4
TSR2 Induces laryngeal cancer cell apoptosis through inhibiting NF-κB signaling pathway.
Laryngoscope. 2018 Apr;128(4):E130-E134. doi: 10.1002/lary.27035. Epub 2017 Dec 27.
5
Loss of Sun2 promotes the progression of prostate cancer by regulating fatty acid oxidation.
Oncotarget. 2017 Jul 12;8(52):89620-89630. doi: 10.18632/oncotarget.19210. eCollection 2017 Oct 27.
6
Risk of early-onset prostate cancer associated with occupation in the Nordic countries.
Eur J Cancer. 2017 Dec;87:92-100. doi: 10.1016/j.ejca.2017.09.023. Epub 2017 Nov 10.
7
TMEM17 depresses invasion and metastasis in lung cancer cells via ERK signaling pathway.
Oncotarget. 2017 Aug 7;8(41):70685-70694. doi: 10.18632/oncotarget.19977. eCollection 2017 Sep 19.
8
Identification of six new genetic loci associated with atrial fibrillation in the Japanese population.
Nat Genet. 2017 Jun;49(6):953-958. doi: 10.1038/ng.3842. Epub 2017 Apr 17.
9
Overview of BioBank Japan follow-up data in 32 diseases.
J Epidemiol. 2017 Mar;27(3S):S22-S28. doi: 10.1016/j.je.2016.12.006. Epub 2017 Feb 10.
10
Overview of the BioBank Japan Project: Study design and profile.
J Epidemiol. 2017 Mar;27(3S):S2-S8. doi: 10.1016/j.je.2016.12.005. Epub 2017 Feb 8.

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