A novel Germline mutation in HOXB13 is associated with prostate cancer risk in Chinese men1. Issue 2 (21st June 2012)

• Record Type: Journal Article
• Authors: Lin, Xiaoling; Qu, Lianxi; Chen, Zhuo; Xu, Chuanliang; Ye, Dingwei; Shao, Qiang; Wang, Xiang; Qi, Jun; Chen, Zhiwen; Zhou, Fangjian; Wang, Meilin; Wang, Zhong; He, Dalin; Wu, Denglong; Gao, Xin; Yuan, Jianlin; Wang, Gongxian; Xu, Yong; Wang, Guozeng; Dong, Pei; Jiao, Yang; Yang, Jin; Ou‐Yang, Jun; Jiang, Haowen; Zhu, Yao; Ren, Shancheng; Zhang, Zhengdong; Yin, Changjun; Wu, Qijun; Zheng, Ying; Turner, Aubrey R.; Tao, Sha; Na, Rong; Ding, Qiang; Lu, Daru; Shi, Rong; Sun, Jielin; Liu, Fang; Zheng, S. Lilly; Mo, Zengnan; Sun, Yinghao; Xu, Jianfeng;
• Is Part Of: Prostate. Volume 73:Issue 2(2013)
• Page Start: 169
• Page End: 175
• Publication Date: 2012-06-21
• Subjects: Prostate -- Diseases -- Periodicals; 616
• DOI: 10.1002/pros.22552
• Languages: English
• ISSNs: 0270-4137

Abstract

<abstract abstract-type="main" xml:lang="en"> <title>Abstract</title> <sec id="abs1-1" sec-type="section"> <title>BACKGROUND</title> <p>A rare mutation G84E in <italic>HOXB13</italic> was recently identified to be associated with prostate cancer (PCa) in Caucasians. The goal of this study is to test association between <italic>HOXB13</italic> genetic variants and PCa risk in Chinese men.</p> </sec> <sec id="abs1-2" sec-type="section"> <title>METHODS</title> <p>All study subjects were part of the Chinese Consortium for Prostate Cancer Genetics (ChinaPCa). In the first stage, we screened for mutations by sequencing the <italic>HOXB13</italic> coding region in 96 unrelated PCa patients. In stage 2, G84E and novel mutations found in stage 1 were genotyped in 671 PCa patients and 1, 536 controls. In stage 3, mutation status in 751 additional PCa patients was imputed via haplotype.</p> </sec> <sec id="abs1-3" sec-type="section"> <title>RESULTS</title> <p>The G84E mutation was not detected in this study. However, a novel mutation, G135E, was identified among 96 patients in stage 1. It was also observed twice in 575 additional PCa patients but not in 1, 536 control subjects of stage 2. The frequency of G135E was significantly different between cases and controls, with a <italic>P</italic>‐value of 0.027, based on Fisher's exact test. Haplotype estimation showed that G135E mutation carriers shared a unique haplotype that was not observed in other subjects. In stage 3, two more PCa patients were predicted to carry the G135E mutation.</p> </sec> <sec id="abs1-4" sec-type="section"> <title>CONCLUSIONS</title> <p>We identified a novel rare mutation in the <italic>HOXB13</italic> gene, G135E, which appears to be a founder mutation. This mutation is associated with increased PCa risk in Chinese men. Consistent with a previous report, our findings provide further evidence that rare mutations in <italic>HOXB13</italic> contribute to PCa risk. Prostate 73: 169–175, 2013. © 2012 Wiley Periodicals, Inc.</p> </sec> </abstract>