Jiang Limin, Guo Fei, Tang Jijun, Leng Shuguan, Ness Scott, Ye Fei, Kang Huining, Samuels David C, Guo Yan
Department of Internal Medicine, Comprehensive Cancer Center, University of New Mexico, Albuquerque, NM 87109, USA.
School of Computer Science and Technology, College of Intelligence and Computing, Tianjin University, Tianjin 300350, China.
Cancers (Basel). 2020 Dec 4;12(12):3646. doi: 10.3390/cancers12123646.
Global autozygosity quantifies the genome-wide levels of homozygous and heterozygous variants. It is the signature of non-random reproduction, though it can also be driven by other factors, and has been used to assess risk in various diseases. However, the association between global autozygosity and cancer risk has not been studied. From 4057 cancer subjects and 1668 healthy controls, we found strong associations between global autozygosity and risk in ten different cancer types. For example, the heterozygosity ratio was found to be significantly associated with breast invasive carcinoma in Blacks and with male skin cutaneous melanoma in Caucasians. We also discovered eleven associations between global autozygosity and mutational signatures which can explain a portion of the etiology. Furthermore, four significant associations for heterozygosity ratio were revealed in disease-specific survival analyses. This study demonstrates that global autozygosity is effective for cancer risk assessment.
全基因组纯合性量化了全基因组范围内纯合和杂合变异的水平。它是非随机繁殖的特征，尽管也可能由其他因素驱动，并且已被用于评估各种疾病的风险。然而，全基因组纯合性与癌症风险之间的关联尚未得到研究。在4057名癌症患者和1668名健康对照中，我们发现全基因组纯合性与十种不同癌症类型的风险之间存在密切关联。例如，发现杂合性比率与黑人的乳腺浸润性癌以及白种人的男性皮肤黑色素瘤显著相关。我们还发现全基因组纯合性与突变特征之间存在11种关联，这可以解释部分病因。此外，在疾病特异性生存分析中揭示了杂合性比率的四个显著关联。这项研究表明，全基因组纯合性对癌症风险评估有效。
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