Association Between Germline HOXB13 G84E Mutation and Risk of Prostate Cancer
Association Between Germline HOXB13 G84E Mutation and Risk of Prostate Cancer
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DOI：
10.1093/jnci/djs288
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发表时间：
2012-08-01
期刊：
影响因子：
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通讯作者：
Nam, Robert K.
中科院分区：
文献类型：
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作者：
Akbari, Mohammad R.;Trachtenberg, John;Nam, Robert K.
最近，与前列腺发育有关的基因HOXB13的G84E突变被证明与前列腺癌风险增加密切相关。为了在筛选环境中证实这种关联，我们进行了一项病例对照研究，并对1843名诊断为前列腺癌的男性（病例组）和2225名非前列腺癌男性（对照组）的外周白细胞进行了种系DNA测序，以检测HOXB13突变。受试者（40-94岁）在加拿大的两个三级保健中心进行了预筛选和前列腺活检。病例组和对照组按种族确定HOXB13变异的频率，优势比和95%置信区间基于2 × 2表分析。所有统计检验均为双侧检验。12名白人男性被确定为G84E突变的携带者。G84E突变在白人患者中比在白人对照组中更常见（1525例[0.7%]中的10例对1757例[0.1%]中的2例，P = 0.01），并与前列腺癌的风险增加相关（未调整的优势比= 5.8,95%可信区间= 1.3 ~ 26.5,P = 0.01）。
Recently, a G84E mutation in HOXB13, a gene involved in prostate development, was shown to be strongly associated with an increased risk of prostate cancer. To confirm this association in a screening setting, we conducted a case-control study and sequenced germline DNA from peripheral leukocytes of 1843 men diagnosed with prostate cancer (case subjects) and 2225 men without prostate cancer (control subjects) for mutations in HOXB13. Subjects (aged 40-94 years) were prescreened and underwent a prostate biopsy at two tertiary care centers in Canada. The frequency of HOXB13 variants was determined in case subjects and control subjects by race, and odds ratios and 95% confidence intervals were based on 2 x 2 table analysis. All statistical tests were two-sided. Twelve men of white race were identified to be carriers of the G84E mutation. The G84E mutation was more frequent among white case subjects than among white control subjects (10 of 1525 [0.7%] vs 2 of 1757 [0.1%], P = .01) and was associated with an increased risk of prostate cancer (unadjusted odds ratio = 5.8, 95% confidence interval = 1.3 to 26.5, P = .01).