Donin Nicholas M, Loeb Stacy, Cooper Phillip R, Roehl Kimberly A, Baumann Nikola A, Catalona William J, Helfand Brian T
Department of Urology, New York University Langone Medical Center and Manhattan Veterans Affairs Medical Center, New York, NY, USA.
Department of Urology, Feinberg School of Medicine, Northwestern University, Chicago, IL, USA.
BJU Int. 2014 Dec;114(6b):E50-E55. doi: 10.1111/bju.12647. Epub 2014 Jul 15.
To evaluate whether genetic correction using the genetic variants prostate-specific antigen (PSA)-single nucleotide polymorphisms (SNPs) could reduce potentially unnecessary and/or delayed biopsies in African-American men.
We compared the genotypes of four PSA-SNPs between 964 Caucasian and 363 African-American men without known prostate cancer (PCa). We adjusted the PSA values based on an individual's PSA-SNP carrier status, and calculated the percentage of men that would meet commonly used PSA thresholds for biopsy (≥ 2.5 or ≥ 4.0 ng/mL) before and after genetic correction. Potentially unnecessary and delayed biopsies were defined as those men who were below and above the biopsy threshold after genetic correction, respectively.
Overall, 349 (96.1%) and 354 (97.5%) African-American men had measured PSA levels <2.5 and <4.0 ng/mL. Genetic correction in African-American men did not avoid any potentially unnecessary biopsies, but resulted in a significant (P < 0.001) reduction in potentially delayed biopsies by 2.5% and 3.9%, based on the biopsy threshold level.
There are significant differences in the influence of the PSA-SNPs between African-American and Caucasian men without known PCa, as genetic correction resulted in an increased proportion of African-American men crossing the threshold for biopsy. These results raise the question of whether genetic differences in PSA might contribute to delayed PCa diagnosis in African-American men.
评估利用前列腺特异性抗原（PSA）单核苷酸多态性（SNP）进行基因校正是否能减少非裔美国男性中潜在的不必要和/或延迟活检。
我们比较了964名白种人和363名无前列腺癌（PCa）的非裔美国男性之间4种PSA-SNP的基因型。我们根据个体的PSA-SNP携带状态调整PSA值，并计算基因校正前后达到常用活检PSA阈值（≥2.5或≥4.0 ng/mL）的男性百分比。潜在的不必要和延迟活检分别定义为基因校正后低于和高于活检阈值的男性。
总体而言，349名（96.1%）和354名（97.5%）非裔美国男性的PSA水平<2.5和<4.0 ng/mL。非裔美国男性的基因校正并未避免任何潜在的不必要活检，但根据活检阈值水平，潜在延迟活检显著减少（P<0.001），分别减少了2.5%和3.9%。
在无PCa的非裔美国男性和白种男性中，PSA-SNP的影响存在显著差异，因为基因校正导致超过活检阈值的非裔美国男性比例增加。这些结果提出了一个问题，即PSA的基因差异是否可能导致非裔美国男性PCa诊断延迟。
