伊朗人群中X射线修复交叉互补基因1（XRCC1）的Arg194Trp、Arg280His和Arg399Gln多态性与分化型甲状腺癌风险的相关性
Association of Arg194Trp, Arg280His and Arg399Gln polymorphisms in X-ray repair cross-complementing group 1 gene and risk of differentiated thyroid carcinoma in Iran.
作者信息
Fard-Esfahani Pezhman, Fard-Esfahani Armaghan, Fayaz Shima, Ghanbarzadeh Bahareh, Saidi Parinaz, Mohabati Reyhaneh, Bidoki Seyed Kazem, Majdi Mina
机构信息
Dept. of Biochemistry, Pasteur Institute of Iran, Tehran, Iran.
Research Institute for Nuclear Medicine, Tehran University of Medical Sciences, Tehran, Iran.
出版信息
Iran Biomed J. 2011;15(3):73-8.
BACKGROUND
X-ray repair cross-complementing group 1 (XRCC1) gene is a DNA repair gene and its non-synonymous single nucleotide polymorphisms (SNP) may influence DNA repair capacity which has been considered as a modifying risk factor for cancer development.
METHODS
A case-control study was conducted to investigate impact of three frequently studied polymorphisms (Arg194Trp, Arg280His and Arg399Gln) on developing differentiated thyroid carcinoma (DTC).
RESULTS
Increased risks for DTC were shown in homozygous (odds ratio [OR]: 3.66, 95% confidence interval [CI]: 0.38-35.60) and in dominant trait (OR: 1.22, 95% CI: 1.64-2.32) of Arg194Trp genotype. Also, for Arg280His genotype, an increased risk for DTC was shown in dominant trait (OR: 1.42, 95% confidence interval [CI]: 0.76-2.68), while a mildly reduction of risk for DTC (OR: 0.77, 95% [CI]: 0.50-1.17) was estimated in dominant Gln genotype of Arg399Gln. Considering combinatory effects of Arg194Trp and Arg280His genotypes on DTC, the calculated OR and 95% CI for being heterozygous for one of Arg194Trp or Arg280His genotypes were 1.57 and 0.90-2.74, respectively.
CONCLUSION
Genotyping of codons 194, 280 and 399 in XRCC1 gene may use in risk assessment of DTC.
背景
X射线修复交叉互补基因1（XRCC1）是一种DNA修复基因，其非同义单核苷酸多态性（SNP）可能影响DNA修复能力，而DNA修复能力被认为是癌症发生的一个修饰风险因素。
方法
开展一项病例对照研究，以调查3个经常研究的多态性（Arg194Trp、Arg280His和Arg399Gln）对分化型甲状腺癌（DTC）发生的影响。
结果
Arg194Trp基因型的纯合子（比值比[OR]：3.66，95%置信区间[CI]：0.38 - 35.60）和显性性状（OR：1.22，95% CI：1.64 - 2.32）显示DTC风险增加。此外，对于Arg280His基因型，显性性状显示DTC风险增加（OR：1.42，95%置信区间[CI]：0.76 - 2.68），而Arg399Gln的显性Gln基因型估计DTC风险略有降低（OR：0.77，95%[CI]：0.50 - 1.17）。考虑到Arg194Trp和Arg280His基因型对DTC的联合效应，Arg194Trp或Arg280His基因型之一为杂合子的计算OR和95% CI分别为1.57和0.90 - 2.74。
结论
XRCC1基因第194、280和399密码子的基因分型可用于DTC的风险评估。
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