Biostatistics and Bioinformatics Facility, Fox Chase Cancer Center, Philadelphia, PA, USA.
The Irma H Russo, MD-Breast Cancer Research Laboratory, Fox Chase Cancer Center, Philadelphia, PA, USA.
Sci Rep. 2023 Jan 26;13(1):1452. doi: 10.1038/s41598-023-28461-y.
Genetic compositions of distinct human populations are different. How genomic variants influence many common and rare genetic diseases is always of great medical and anthropological interest, and understanding of genetic architectures of population groups in relation to diseases can advance our knowledge of medicine. Here, we have studied the genomic architecture of a group of Xavante Indians, an indigenous population in Brazil, and compared them with normal populations from the 1000 Genomes Projects. Principal component analysis (PCA) indicates that the Xavante Indians are genetically distinctive when compared to other ethnic groups. No incidence of breast cancer cases has ever been reported in the population, and polygenic risk analysis indicates extremely low breast cancer risk in this population when compared with germline TCGA (The Cancer Genome Atlas) breast cancer normal control samples. Low germinal mutation burden among this population is also observed. Our findings will help to deepen the understanding of breast cancer and might also provide new approaches to study the disease.
不同人群的遗传组成存在差异。基因组变异如何影响许多常见和罕见的遗传疾病，一直是医学和人类学非常关注的问题，了解与疾病相关的人群的遗传结构可以增进我们对医学的认识。在这里，我们研究了巴西一个印第安人部落——沙万特印第安人的基因组结构，并将其与 1000 基因组计划的正常人群进行了比较。主成分分析（PCA）表明，与其他族群相比，沙万特印第安人在遗传上具有独特性。该人群从未报告过乳腺癌病例，多基因风险分析表明，与肿瘤基因组图谱（TCGA）乳腺癌正常对照样本相比，该人群的乳腺癌风险极低。在该人群中也观察到低的种系突变负担。我们的发现将有助于加深对乳腺癌的认识，也可能为研究该疾病提供新的方法。
