Department of Oncology, Lanzhou University Second Hospital, Lanzhou, China.
Centre Laboratory, Lanzhou University First Hospital, Lanzhou, China.
Mol Genet Genomic Med. 2020 May;8(5):e1162. doi: 10.1002/mgg3.1162. Epub 2020 Mar 2.
The aim of this study was to investigate potential associations between CYP2B6 c.516G>T polymorphism and the occurrence and prognosis of acute leukemias (AL) in the Han population of Northwest China.
The CYP2B6 gene polymorphism was analyzed by PCR-RFLP and Sanger DNA sequencing in 126 patients with AL and 161 healthy controls.
Compared with controls, there were significantly higher frequencies of GT and TT genotypes and T alleles in AL patients (p < .05), particularly in fusion gene-positive AL patients. There was no significant difference in CYP2B6 polymorphic genotypes and T alleles between AL patients with complete remission after the first course of chemotherapy and controls (p > .05), while the frequencies in AL patients with partial remission and no remission were significantly higher. The CYP2B6 allele frequency in Han Chinese in Northwest China was significantly different to that reported in Han Chinese and other ethnic minorities in southern China, Uygur Chinese, Vietnamese, African, German, British, Spanish, Turkish, and Argentinian populations; however, there was no significant difference compared with allele frequencies reported in Tibetan and Mongolian Chinese, Japanese, Korean, and American populations.
Our findings show a strong correlation of the CYP2B6 c.516G>T polymorphism in the Han population of Northwest China with AL, especially fusion gene-positive AL, and indicate a poor prognosis after the first course of chemotherapy. Our findings also implicate the T allele in AL susceptibility and indicate the existence of racial and geographical differences in allele frequencies of CYP2B6 c.516G>T polymorphism.
本研究旨在探讨 CYP2B6 c.516G>T 多态性与中国西北地区汉族人群急性白血病（AL）的发生和预后之间的潜在关联。
采用 PCR-RFLP 和 Sanger DNA 测序法对 126 例 AL 患者和 161 例健康对照者的 CYP2B6 基因多态性进行分析。
与对照组相比，AL 患者 GT 和 TT 基因型及 T 等位基因频率明显升高（p<.05），尤其是融合基因阳性的 AL 患者。首次化疗完全缓解的 AL 患者与对照组间 CYP2B6 多态基因型及 T 等位基因无显著差异（p>.05），而部分缓解和未缓解的患者频率明显升高。中国西北地区汉族人群 CYP2B6 等位基因频率与中国南方汉族人群及其他少数民族（维吾尔族、越南人、非洲人、德国、英国、西班牙、土耳其、阿根廷人）、藏族和蒙古族、日本人、韩国人、美国人报道的等位基因频率存在显著差异，与维吾尔族、越南人、非洲人、德国、英国、西班牙、土耳其、阿根廷人报道的等位基因频率无显著差异。
本研究结果表明，中国西北地区汉族人群 CYP2B6 c.516G>T 多态性与 AL 尤其是融合基因阳性 AL 密切相关，且首次化疗后预后不良。本研究还提示 T 等位基因与 AL 易感性相关，并提示 CYP2B6 c.516G>T 多态性等位基因频率存在种族和地域差异。
