Peng Mengle, Zhao Guanfei, Yang Funing, Cheng Guixue, Huang Jing, Qin Xiaosong, Liu Yong, Wang Qingtao, Li Yongzhe, Qin Dongchun
Department of Clinical Laboratory, The First Affiliated Hospital of Zhengzhou University, Key Laboratory of Laboratory Medicine of Henan Province, Zhengzhou, Henan, China.
Department of Clinical Laboratory, Beijing Chaoyang Hospital Affiliated to Capital Medical University, Beijing, China.
PLoS One. 2017 Mar 6;12(3):e0173298. doi: 10.1371/journal.pone.0173298. eCollection 2017.
Multiple myeloma (MM) is an incurable malignancy of mature B-lymphoid cells, and its pathogenesis is only partially understood. Previous studies have demonstrated that a number of Non-Hodgkin Lymphoma (NHL) associated genes also show susceptibility to MM, suggesting malignancies originating from B cells may share similar genetic susceptibility. Several recent large-scale genome-wide association studies (GWAS) have identified HLA-I, HLA-II, CXCR5, ETS1, LPP and NCOA1 genes as genetic risk factors associated with NHL, and this study aimed to investigate whether these genes polymorphisms confer susceptibility with MM in the Chinese Han population. In 827 MM cases and 709 healthy controls of Chinese Han, seven single nucleotide polymorphisms (SNPs) in the HLA-I region (rs6457327), the HLA-II region (rs2647012 and rs7755224), the CXCR5 gene (rs4938573), the ETS1 gene (rs4937362), the LPP gene (rs6444305), and the NCOA1 region (rs79480871) were genotyped using the Sequenom platform. Our study indicated that genotype and allele frequencies of rs79480871 showed strong associations with MM patients (pa = 3.5×10-4 and pa = 1.5×10-4), and the rs6457327 genotype was more readily associated with MM patients than with controls (pa = 4.9×10-3). This study was the first to reveal the correlation between NCOA1 gene polymorphisms and MM patients, indicating that NCOA1 might be a novel susceptibility gene for MM patients in the Chinese Han population.
多发性骨髓瘤（MM）是一种无法治愈的成熟B淋巴细胞恶性肿瘤，其发病机制仅得到部分了解。先前的研究表明，许多非霍奇金淋巴瘤（NHL）相关基因也显示出对MM的易感性，这表明源自B细胞的恶性肿瘤可能具有相似的遗传易感性。最近的几项大规模全基因组关联研究（GWAS）已将HLA-I、HLA-II、CXCR5、ETS1、LPP和NCOA1基因确定为与NHL相关的遗传风险因素，本研究旨在调查这些基因多态性是否在中国汉族人群中赋予MM易感性。在中国汉族的827例MM病例和709例健康对照中，使用Sequenom平台对HLA-I区域（rs6457327）、HLA-II区域（rs2647012和rs7755224）、CXCR5基因（rs4938573）、ETS1基因（rs4937362）、LPP基因（rs6444305）和NCOA1区域（rs79480871）的7个单核苷酸多态性（SNP）进行了基因分型。我们的研究表明，rs79480871的基因型和等位基因频率与MM患者有很强的相关性（P = 3.5×10-4和P = 1.5×10-4），并且rs6457327基因型与MM患者的相关性比与对照更强（P =4.9×10-3）。本研究首次揭示了NCOA1基因多态性与MM患者之间的相关性，表明NCOA1可能是中国汉族人群中MM患者的一个新的易感基因。
