上海交通大学学报（医学版）

›› 2011, Vol. 31 ›› Issue (10): 1403-.doi: 10.3969/j.issn.1674-8115.2011.10.010

• 论著（临床研究） • 上一篇    下一篇

着色性干皮病基因组D和胞苷脱氨酶基因单核苷酸多态性与肺癌易感性的关系

周 敏, 戎霞君, 高蓓莉, 丁永杰, 万欢英   

  1. 上海交通大学 |医学院附属瑞金医院呼吸科, 上海 200025
  • 出版日期:2011-10-28 发布日期:2011-10-27
  • 通讯作者: 戎霞君, 电子信箱: rongxiajun@yahoo.com.cn。
  • 作者简介:周 敏（1972—）, 女, 副主任医师, 博士；电子信箱: doctor_zhou_99@yahoo.com.cn。
  • 基金资助:

    上海市癌症慈善基金资助

Relationship between single nucleotide polymorphisms of xeroderma pigmentosum complementary group D and cytidine deaminase gene and susceptibility to lung cancer

ZHOU Min, RONG Xia-jun, GAO Bei-li, DING Yong-jie, WAN Huan-ying   

  1. Department of Respiratory Medicine, Ruijin Hospital, Shanghai Jiaotong University School of Medicine, Shanghai 200025, China
  • Online:2011-10-28 Published:2011-10-27
  • Supported by:

    Shanghai Cancer Charity Foundation

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摘要：

目的 探讨着色性干皮病基因组D（XPD）和胞苷脱氨酶（CDA）基因单核苷酸多态性与肺癌易感性及其病理类型的关系，并探讨吸烟与基因多态性的交互作用对肺癌发病风险的影响。方法 采用病例-对照研究方法纳入肺癌患者和健康对照者各103人，采用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）法分析两组人群XPD基因外显子10G→A （Asp312Asn）、23A→C（Lys751Gln）以及CDA基因外显子1上79A→C（Lys27Gln）、208G→A（Ala70 Thr）的基因型。 结果 两组XPD312和XPD751位点的基因分布频率比较差异均无统计学意义（P＞0.05）；但吸烟合并XPD第751位点突变个体发生肺癌的风险显著增加（P=0.044）；同时发生XPD第312和751两个位点突变的肺癌风险增加6.13倍（P=0.047）。两组CDA Lys27Gln和CDA Ala70 Thr基因分布频率差异无统计学意义(P>0.05)。XPD和CDA在不同病理类型中的基因分布频率差异无统计学意义（P>0.05）。结论 吸烟可使XPD第751位点发生突变的个体发生肺癌的风险增加，XPD基因第312和751两个位点同时突变使肺癌发生的风险增加。

关键词: 着色性干皮病基因组D, 胞苷脱氨酶, 单核苷酸多态性, 肺癌

Abstract:

Objective To investigate the relationship between single nucleotide polymorphisms of xeroderma pigmentosum complementary group D (XPD) and cytidine deaminase (CDA) gene and susceptibility to lung cancer, and explore the influence of the interaction between smoking and gene polymorphisms on the risk of development of lung cancer. Methods Case-control study was performed on 103 patients with lung cancer and 103 healthy controls. Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) was employed to determine  the  genotype distribution of XPD exon 10 G→A (Asp312Asn) and 23A→C (Lys751Gln) and that of CDA exon 79A→ C (Lys27Gln) and 208G→ A (Ala70 Thr). Results There was no significant difference in genotype distribution of XPD312 and XPD751 between two groups (P＞0.05). However, smoking in combination with mutation at locus 751 of XPD increased the risk of development of lung cancer (P=0.044), and the risk of development of lung cancer increased 6.13 times with mutations at both loci 312 and 751 of XPD (P=0.047). There was no significant difference in genotype distribution of CDA Lys27Gln and CDA Ala70 Thr between two groups (P>0.05). There was no significant difference in genotype distribution of XPD and CDA among different pathological types. Conclusion Smoking in combination with mutation at locus 751 of XPD may increase the risk of development of lung cancer, and mutation at both loci 312 and locus 751 of XPD may increase the risk of development of lung cancer.

Key words: xeroderma pigmentosum complementary group D, cytidine deaminase, single nucleotide polymorphisms, lung cancer