Cancer Prevention and Control Program, Fox Chase Cancer Center-Temple Health, Philadelphia, USA.
Department of Epidemiology and Biostatistics, College of Public Health, Temple University, Philadelphia, USA.
Ethn Health. 2021 Jul;26(5):659-675. doi: 10.1080/13557858.2018.1548695. Epub 2018 Nov 19.
Cancer mortality inequity among persons of African Ancestry is remarkable. Yet, Black inclusion in cancer biology research is sorely lacking and warrants urgent attention. Epidemiologic research linking African Ancestry and the African Diaspora to disease susceptibility and outcomes is critical for understanding the significant and troubling health disparities among Blacks. Therefore, in a cohort of diverse Blacks, this study examined differences in genetic ancestry informative markers (AIMs) in the DNA repair pathway and the cancer related biomarker 4-(Methylnitrosamino)-1-(3-pyridyl)-1-butanol (NNAL). Participants completed a questionnaire and provided bio-specimens. AIMs in or around DNA repair pathway genes were analyzed to assess differences in minor allele frequency (MAF) across the 3 ethnic subgroups. NNAL concentration in urine was measured among current smokers. To date the cohort includes 852 participants, 88.3% being Black. Of the 752 Blacks, 51.3% were US-born, 27.8% were Caribbean-born, and 19.6% were Africa-born. Current and former smokers represented 14.9% and 10.0%, respectively. US-born Blacks were more likely to be smokers and poor metabolizers of NNAL. Two-way hierarchical clustering revealed MAF of AIMs differed across the 3 ethnic subgroups. Our findings are consistent with the emerging literature demonstrating Black heterogeneity underscoring African Ancestry genetic subgroup differences - specifically relevant to cancer. Further investigations, with data harmonization and sharing, are urgently needed to begin to map African Ancestry cancer biomarkers as well as race, and race by place\region comparative biomarkers to inform cancer prevention and treatment in the era of precision medicine.
非洲裔人群的癌症死亡率存在显著的不公平现象。然而，在癌症生物学研究中，黑人的参与严重不足，这亟待引起关注。将非洲裔和非洲散居人群与疾病易感性和结果联系起来的流行病学研究对于理解黑人之间存在的显著且令人困扰的健康差异至关重要。因此，在一个多样化的黑人队列中，本研究检查了 DNA 修复途径中的遗传祖先信息标记 (AIM) 和与癌症相关的生物标志物 4-(甲基亚硝氨基)-1-(3-吡啶基)-1-丁醇 (NNAL) 在基因中的差异。参与者完成了一份问卷并提供了生物样本。分析 DNA 修复途径基因内或周围的 AIM，以评估 3 个种族亚组之间的次要等位基因频率 (MAF) 差异。对当前吸烟者尿液中的 NNAL 浓度进行了测量。迄今为止，该队列包括 852 名参与者，其中 88.3%是黑人。在 752 名黑人中，51.3%是美国出生的，27.8%是加勒比出生的，19.6%是非洲出生的。当前吸烟者和前吸烟者分别占 14.9%和 10.0%。美国出生的黑人更有可能是吸烟者和 NNAL 的代谢不良者。双向层次聚类显示，AIM 的 MAF 在 3 个种族亚组之间存在差异。我们的研究结果与新兴文献一致，这些文献表明黑人存在异质性，强调了非洲祖先遗传亚群的差异——这对癌症尤为重要。迫切需要进一步的研究，进行数据协调和共享，开始绘制非洲祖先癌症生物标志物以及种族和种族与地区的比较生物标志物图谱，以便在精准医学时代为癌症预防和治疗提供信息。
