Statistical Genetics Group, Institute of Medical Biometry and Informatics, University of Heidelberg, Germany.
Department of Basic and Clinical Oncology, Medical Faculty, University of Chile, Chile.
Cancer Epidemiol. 2020 Apr;65:101643. doi: 10.1016/j.canep.2019.101643. Epub 2020 Feb 10.
The first large-scale genome-wide association study of gallbladder cancer (GBC) recently identified and validated three susceptibility variants in the ABCB1 and ABCB4 genes for individuals of Indian descent. We investigated whether these variants were also associated with GBC risk in Chileans, who show the highest incidence of GBC worldwide, and in Europeans with a low GBC incidence.
This population-based study analysed genotype data from retrospective Chilean case-control (255 cases, 2042 controls) and prospective European cohort (108 cases, 181 controls) samples consistently with the original publication.
Our results confirmed the reported associations for Chileans with similar risk effects. Particularly strong associations (per-allele odds ratios close to 2) were observed for Chileans with high Native American (=Mapuche) ancestry. No associations were noticed for Europeans, but the statistical power was low.
Taking full advantage of genetic and ethnic differences in GBC risk may improve the efficiency of current prevention programs.
最近，一项针对胆囊癌（GBC）的大规模全基因组关联研究在 ABCB1 和 ABCB4 基因中鉴定并验证了三个印度血统个体的易感性变异。我们研究了这些变异是否也与智利人和欧洲人患 GBC 的风险相关，智利人是全世界 GBC 发病率最高的人群，而欧洲人 GBC 发病率较低。
本基于人群的研究分析了与原始出版物一致的回顾性智利病例对照（255 例，2042 例对照）和前瞻性欧洲队列（108 例，181 例对照）样本的基因型数据。
我们的结果证实了在具有相似风险效应的智利人群中报告的关联。对于具有高美洲原住民（=马普切族）血统的智利人，观察到了特别强的关联（每个等位基因的优势比接近 2）。在欧洲人身上没有发现关联，但统计效力较低。
充分利用 GBC 风险的遗传和种族差异可能会提高当前预防计划的效率。
