›› 2011, Vol. 23 ›› Issue (1): 16-021.doi: 10.3969/j.issn.1004-616x.2011.01.005

• 论著 • 上一篇    下一篇

转化生长因子βI型受体多态性与食管鳞状细胞癌发病风险的关联

董稚明1,郭 炜1,王 珩2,郭艳丽1,王士杰1,杨植彬1   

  1. 1. 河北医科大学第四医院肿瘤研究所； 2. 河北医科大学第四医院病理科，河北 石家庄
  • 收稿日期:2010-08-20 修回日期:2010-10-22 出版日期:2011-01-30 发布日期:2011-01-30
  • 通讯作者: 王士杰

Correlation of TGF-β receptor type 1 gene *6A and Int7G24A polymorphisms with the risk of esophageal squamous cell carcinoma

DONG Zhi-ming1, GUO Wei1, WANG Heng2 ,GUO Yan-li1, WANG Shi-jie1,*, YANG Zhi-bin1   

  1. 1. Hebei Cancer Institute, Fourth Hospital of Hebei Medical University; 2. Department of Pathology,Fourth Hospital of Hebei Medical University, Shijiazhuang
  • Received:2010-08-20 Revised:2010-10-22 Online:2011-01-30 Published:2011-01-30
  • Contact: WANG Shi-jie

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摘要： 探讨转化生长因子βI型受体(transforming growth factor-beta receptor type 1 gene，TGFBR1)*6A和Int7G24A多态性与中国北方人群食管鳞状细胞癌(esophageal squamous cell carcinoma，ESCC)遗传易感性的关系。 方法: 选择482名食管鳞癌患者和584名正常健康体检者作对照，分别采用PCR和聚合酶链反应-限制性片段长度多态性(PCR-RFLP)的方法，检测两组受试者外周血单个核细胞染色体DNA中，TGFBR1第1外显子*6A和第7内含子Int7G24A的多态性分布情况。同时对ESCC患者术后的切除肿瘤组织采用免疫组织化学方法检测TGFBR1的蛋白表达情况，并与其基因型进行相关分析。 结果: TGFBR1基因*6A多态性位点的基因型及等位基因型频率，在ESCC患者组和对照组之间，其分布差异均无统计学意义(P ＞0.05)。TGFBR1基因Int7G24A多态性位点的基因型和等位基因型频率，在ESCC组和对照组间分布的差异均具有统计学意义(P ＜0.05)，A等位基因携带者患ESCC的风险是G等位基因的1.38倍(经性别、年龄和上消化道肿瘤家族史校正后的OR=1.38，95%CI=1.04~1.75)，与GG基因型相比，携带AA基因型可显著增加ESCC的发病风险(校正后的OR=2.23，95%CI=1.19~3.81)。当按肿瘤分期进行分层分析时发现，与GG基因型相比，Ⅲ期和Ⅳ期ESCC患者中携带GA和AA基因型可显著增加发病风险(校正后的OR=1.61，95%CI=1.10~2.21)。ESCC组织中TGFBR1的蛋白阳性表达率(32.1%)显著低于癌旁正常组织(97.7%)(P ＜0.01)，TGFBR1在ESCC中的蛋白表达与*6A和Int7G24A位点的基因型之间无明显相关性(P ＞0.05)。 结论: 转化生长因子βI型受体Int7G24A位点A等位基因可能是我国北方人群食管癌的遗传易感基因，携带A等位基因的个体可增加食管鳞癌的发病风险。

关键词: 管鳞状细胞癌, 单核苷酸多态性, 转化生长因子βI型受体, 肿瘤易感性

Abstract: To investigate the possible association of the transforming growth factor-beta receptor type 1 gene(TGFBR1)*6A and Int7G24A polymorphisms with susceptibility to esophageal squamous cell carcinoma(ESCC) in a population of north China. METHODS: Polymerase chain reaction(PCR) and polymerase-chain reaction-restriction fragment length polymorphism(PCR-RFLP) analyses were used to detect the genotype of *6A(exon 1) and Int7G24A(intron 7) polymorphisms in ESCC. The expression of TGFBR1 protein in tumors and corresponding normal tissues was detected by immunohistochemistry method. RESULTS: The genotype and allelotype distributions of TGFBR1 *6A polymorphism in ESCC patients were not significantly different from those in healthy controls(P＞0.05). The overall genotype and allelotype distributions of TGFBR1 Int7G24A polymorphism in ESCC patients were significantly different from those in healthy controls(P＜0.05). The A allelotype significantly elevated the risk of developing ESCC [ adjusted odds ratio(OR) =1.38, 95% confidence interval(CI) =1.04 - 1.75]. Compared with GG genotype, the AA genotype significantly increased the risk of developing ESCC(adjusted OR=2.23, 95%CI=1.19-3.81). Compared with GG genotype, GA and AA carriers of stage Ⅲ and Ⅳ had heightened risk(adjusted OR=1.61，95%CI=1.10 - 2.21). The protein expression of TGFBR1 in ESCC tumor tissues(32.1%) was significantly lower than that in corresponding normal tissues(97.7%)( P＜0.01 ). However, the protein expression did not correlate with genotypes of Int7G24A and *6A. CONCLUSION: A allelotype of TGFBR1 Int7G24A may be one of the factors that affects the risk of developing ESCC in northern China.

Key words: esophageal squamous cell carcinoma, polymorphism, transforming growth factor-beta receptor type 1, susceptibility

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