ITGA3、TP53INP2和AXIN2基因多态性与甲状腺乳头状癌发病的关联性分析  

Association between ITGA3,TP53INP2,and AXIN2 gene polymorphism and papillary thyroid carcinoma

作　　者：刘欣[1] 李双[1] 林雪君[1] 颜康康[1] 赵龙宇[1] 鲍红红 俞琼[1] 刘晓冬[2] 

机构地区：[1]吉林大学公共卫生学院流行病与卫生统计学教研室,吉林长春130021 [2]吉林大学公共卫生学院卫生部放射生物学重点实验室,吉林长春130021

出　　处：《吉林大学学报（医学版）》2014年第2期384-388,共5页Journal of Jilin University：Medicine Edition

基　　金：吉林省科技厅科研基金资助课题(201205008);吉林省人力资源和社会保障厅博士后科研项目资助课题(RB201343)

摘　　要：目的:探讨ITGA3、TP53INP2和AXIN2基因多态性与甲状腺乳头状癌(PTC)的关联性,为防治PTC提供依据。方法:收集56例PTC患者(病例组)的血液,同时取50例甲状腺正常人(对照组)血样。应用激光解析电离飞行时间质谱技术检测ITGA3、TP53INP2和AXIN2基因共14个tag SNPs的基因型,比较病例组和对照组各位点基因型频数和等位基因频数分布差异,采用UNPHASED3.1.4软件分析2个及2个以上位点组成的单倍体型与PTC的关系。结果:Hardy-Weinberg平衡定律检验,14个位点在2组研究对象中的基因型频数分布符合Hardy-Weinberg平衡定律(P>0.05)。AXIN2基因的rs11655966、rs3923086和rs7591位点在病例组和对照组各等位基因频数分布差异有统计学意义(χ2=6.029,df=1,P=0.014;χ2=4.518,df=1,P=0.034;χ2=4.674,df=1,P=0.031),TP53INP2基因上rs910870位点在病例组和对照组的各等位基因频数分布差异有统计学意义(χ2=4.583,df=1,P=0.032),ITGA3基因上5个tag SNPs基因型在病例组和对照组各位点基因型频数和等位基因频数分布差异无统计学意义(P>0.05)。多位点联合分析,rs7210356-rs7591-rs4074947-rs11655966-rs3923086-rs4791169-rs224030单倍体系统在病例组和对照组中的分布差异有统计学意义(P<0.05)。结论:AXIN2基因的rs11655966、rs3923086和rs7591位点可能与PTC发病有关联,AXIN2基因中多个位点组成的单倍体型可能与PTC发病有关联;TP53INP2基因的rs910870位点可能与PTC发病有关联,ITGA3可能与PTC发病无关联。Objective To explore the associations between ITGA3, TP53INP2, and AXIN2 gene polymorphisms and papillary thyroid carcinoma （PTC）, and to provide basis for the prevention and treatment of PTC. Methods 56 cases of blood samples from PTC patients （case group） and 50 cases of normal blood samples from normal thyroid persons（control group） were collected. The genotypes Of 14 SNPs of ITGA3, TP53INP2, and AXIN2 genes were detected by matrix-assisted laser desorption ionization time of flight mass spectrometry. The differences of genotypic and allelic frequencies of different sites between case and control groups were deteeted~ the relationship between haplotype consisted of two or more sites and PTC was analyzed by UNPHASED3.1.4 software. Results The Hardy-Weinberg equilibrium results showed that the genotypic frequency distribution of 14 sites in two groups were in accordance with Hardy-Weinberg equilibrium （P〉0.05）. The distribution of allelie frequencies of rs11655966, rs3923086, and rs7591 sites in AXIN2 gene were statistically different between two groups （X^2=6.029, df=1, P=0.014; X^2=4.518, df=1, P=0.034;X^2=4.674, df=1, P=0.031）. The distribution of allelic frequency of rs910870 site in TP53INP2 gene was statistically different between two groups （X^2 =4. 583, df=1, P=0. 032）. The distribution of allelic and genotypic frequency of five tag SNPs in ITGA3 gene were not statistically different between two groups（P〉0. 05）. The combined analysis of multiple sites results showed that there were statistically differences in the distribution of rs7210356-rs7591-rs4074947-rs11655966- rs3923086-rs4791169-rs2240308 haplo-system between two groups （P〈0.05）. Conclusion The rs11655966, rs3923086, and rs7591 sites in AXIN2 gene and rs910870 site in TP53INP2 gene might be associated with PTC. The haplotype consisted of multiple sites in AXIN2 gene might be associated with PTC. ITGA3 might not be associated with PTC.

关 键 词：甲状腺乳头状癌 单核苷酸多态性 ITGA3 TP53INP2 AXIN2 

分 类 号：R736.1[医药卫生—肿瘤]