PRKCG基因rs3745406和rs2547362单核苷酸多态性与骨肉瘤的易感性  

Study on the relationship between single nucleotide polymorphisms of PRKCG gene （rs2547362 and rs3745406） and sus- ceptibility to osteosarcoma in a Chinese Han population

作　　者：陈英斌[1] 肖增明[1] 贺茂林[1] 王哲[1] 吴洋[1] 

机构地区：[1]广西医科大学第一附属医院脊柱骨病外科,南宁530021

出　　处：《中华骨科杂志》2013年第12期1223-1230,共8页Chinese Journal of Orthopaedics

基　　金：国家自然科学基金（81160323）

摘　　要：目的探讨骨肉瘤患者及正常人群蛋白激酶C-γ（protein kinase C gamma，PRKCG）基因rs3745406和rs2547362单核苷酸多态性与骨肉瘤的易感性。方法2011年1月至2012年12月住院收治的骨肉瘤患者61例及正常人群63例，抽取外周血2ml。用实时荧光定量聚合酶链式反应性方法（real—time quantitative polymerase chain reaction，RT—qPCR）比较骨肉瘤患者及正常人群PRKCG基因rs3745406和rs2547362基因型及等位基因分布频率。对骨肉瘤患者按不同的临床因素（年龄、性别、病理类型、肿瘤位置、Enneking分期、肿瘤转移及治疗情况）进行分组，比较各组基因型频率及等位基因频率，分析基因多态性与各临床因素的关系。结果（1）PRKCG基因rs3745406位点多态性有CC、CT、TT型，骨肉瘤患者及正常人群基因型频率（CC、CT、TT）及等位基因频率（C、T）比较差异均无统计学意义（P=0．490，P=0．554）。（2）PRKCG基因rs2547362位点多态性有CC、CT、TT型，骨肉瘤患者及正常人群基因型频率（CC、CT、TT）及等位基因频率（C、T）比较差异均有统计学意义（P=0．006，P=0．007）。（3）有／无转移患者rs3745406基因型频率（CC、CT、TT）及等位基因频率（C、T）比较差异均有统计学意义（P=0．000，P=0．000），有转移患者CT、TT基因型及T等位基因的分布频率高于无转移患者。rs2547362基因型频率及等位基因频率与临床因素无关。结论PRKCG基因rs2547362位点多态性与骨肉瘤易感性相关，可能增加患骨肉瘤的风险。rs37454061TT基因型和T等位基因与骨肉瘤转移性相关，可能是骨肉瘤发生转移的危险因素。Objective To investigate the relationship between single nucleotide polymorphisms （SNPs） of PRKCG gene （rs2547362, rs3745406） and osteosareoma susceptibility in the osteosareoma patients and the normal population. Methods Sixty-one patients with osteosarcoma who had been admitted in our hospital from January 2011 to December 2012 and 63 healthy adults were enrolled in this study. A 2-ml peripheral blood sample was taken from each participant. The RT-qPCR method was used to detect the genotype and allele frequency distribution of PRKCG gene at rs2547362 and rs3745406 in osteosarcoma patients and normal population. Osteosarcoma patients were divided into several groups according to the clinical parameters such as age, gender, histology, tumor location, Enneking classification, tumor metastasis and therapy, and then we analyzed the relations between the genetic polymorphism and clinical parameters. Results 1） The genotype of PRKCG gene at rs3745406 included CC, CT and TF. The differences of genotypes （CC, CT, TI） and alleles （C, T） frequency distribution at rs3745406 were not statis- tically significant between osteosarcoma patients and the normal population （P=-0.490, P=-0.554）. 2） The genotype of PRKCG gene at rs2547362 included CC, CT and TT. The differences of genotypes （CC, CT, TT） and the alleles（C, T） frequency distribution at rs2547362 were statistically significant between the osteosarcoma patients and the normal population （P=0.006, P=0.007）. 3） The differences of genotypes （CC, CT, TI） and alleles （C, T） frequency distribution at rs3745406 were statistically significant between patients with metastasis and patients without metastasis （P=0.000, P=0.000）. The CT and Tl＂ genotypes and the T allele carrier frequency at rs3745406 were higher in patients with metastasis than in patients without metastasis. SNPs at rs2547362 were not associated with clinical parameters. Conclusion The genetic polymorphism of PRKCG gene at rs2547362 is associated with os- teosar

关 键 词：骨肉瘤 蛋白激酶C 多态性 单核苷酸 疾病易感性 

分 类 号：R738.1[医药卫生—肿瘤]