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Abstract：
BACKGROUND: The antioxidant enzymes are important cellular components involved in detoxification of reactive oxygen species (ROS) and protect cells from ROS induced oxidative damage. Single nucleotide polymorphisms (SNPs) of antioxidant enzyme coding genes such as superoxide dismutase (SOD) and catalase (CAT) may alter the enzyme activity which can influence susceptibility towards carcinogenesis. Therefore, the present study was planned to investigate possible SNPs of SOD (SOD1 (Cu,Zn-SOD), SOD2(Mn-SOD), SOD3(EC-SOD) and CAT genes and their possible association with breast cancer risk in rural Indian women.
METHODS: In this case-control study, the association of SOD and CAT gene polymorphism was studied by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method. The study was conducted among 400 clinically breast cancer patients and 400 healthy women in a population of South-Western Maharashtra. The logistic regression analysis was carried out to calculate Odds ratio (OR) with 95% confidence interval and p-value, where p ≤0.05 was considered as statistically significant.
RESULTS: The results of analysis of genotype frequency distribution showed significant association of rs4880 SNP of Mn-SOD with BC risk at homozygous variant (CC/CC) genotype (OR 2.46; 95%CI, 1.61-3.75; p<0.0001) and corresponding frequency of variant (C) allele (OR 1.53; 95%CI, 1.25-1.86; p<0.0001). In CAT gene polymorphisms the variant (T/T) was increased significantly in BC cases as compared to controls (OR 3.45; 95%CI, 2.17-5.50; p<0.0001) along with its variant (T) allele (OR 2.01; 95%CI, 1.63-2.48; p<0.0001).
CONCLUSIONS: The results implied that, C/C genotype of SOD2-1183T/C polymorphism and T/T genotype of CAT-262 C/T polymorphism may be associated with an increased breast cancer risk. However, SOD1-251 A/G and SOD3-172 G/A polymorphisms did not show any significant difference in variant homozygous genotypes of patients compared to controls.
METHODS: In this case-control study, the association of SOD and CAT gene polymorphism was studied by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method. The study was conducted among 400 clinically breast cancer patients and 400 healthy women in a population of South-Western Maharashtra. The logistic regression analysis was carried out to calculate Odds ratio (OR) with 95% confidence interval and p-value, where p ≤0.05 was considered as statistically significant.
RESULTS: The results of analysis of genotype frequency distribution showed significant association of rs4880 SNP of Mn-SOD with BC risk at homozygous variant (CC/CC) genotype (OR 2.46; 95%CI, 1.61-3.75; p<0.0001) and corresponding frequency of variant (C) allele (OR 1.53; 95%CI, 1.25-1.86; p<0.0001). In CAT gene polymorphisms the variant (T/T) was increased significantly in BC cases as compared to controls (OR 3.45; 95%CI, 2.17-5.50; p<0.0001) along with its variant (T) allele (OR 2.01; 95%CI, 1.63-2.48; p<0.0001).
CONCLUSIONS: The results implied that, C/C genotype of SOD2-1183T/C polymorphism and T/T genotype of CAT-262 C/T polymorphism may be associated with an increased breast cancer risk. However, SOD1-251 A/G and SOD3-172 G/A polymorphisms did not show any significant difference in variant homozygous genotypes of patients compared to controls.
摘要：
背景：抗氧化酶是参与活性氧（ROS）解毒的重要细胞成分，并保护细胞免受ROS诱导的氧化损伤。抗氧化酶编码基因如超氧化物歧化酶（SOD）和过氧化氢酶（CAT）的单核苷酸多态性（SNP）可能会改变酶的活性，从而影响对致癌作用的敏感性。因此,本研究计划调查SOD(SOD1(Cu，Zn-SOD),SOD2(Mn-SOD),SOD3（EC-SOD）和CAT基因及其与印度农村妇女乳腺癌风险的可能关联.
方法：在本病例对照研究中，通过聚合酶链反应-限制性片段长度多态性（PCR-RFLP）方法研究了SOD和CAT基因多态性的相关性。这项研究是在西南马哈拉施特拉邦的400名临床乳腺癌患者和400名健康女性中进行的。进行logistic回归分析，以95％置信区间和p值计算比值比（OR）。其中p≤0.05被认为具有统计学意义。
结果：基因型频率分布的分析结果表明，Mn-SOD的rs4880SNP与纯合变体（CC/CC）基因型（OR2.46；95CI，1.61-3.75；p<0.0001）和相应的变体（C）等位基因频率（OR1.53；95CI，1.25-1.86；p<0.0001）的BC风险显着相关。在CAT基因多态性中，与对照组相比，BC病例的变体（T/T）显着增加（OR3.45;95CI，2.17-5.50;p<0.0001）及其变体（T）等位基因（OR2.01;95CI，1.63-2.48;p<0.0001）。
结论：结果暗示，SOD2-1183T/C多态性的C/C基因型和CAT-262C/T多态性的T/T基因型可能与乳腺癌风险增加有关。然而,与对照组相比，SOD1-251A/G和SOD3-172G/A多态性在患者的纯合基因型变体中没有显示任何显着差异。
方法：在本病例对照研究中，通过聚合酶链反应-限制性片段长度多态性（PCR-RFLP）方法研究了SOD和CAT基因多态性的相关性。这项研究是在西南马哈拉施特拉邦的400名临床乳腺癌患者和400名健康女性中进行的。进行logistic回归分析，以95％置信区间和p值计算比值比（OR）。其中p≤0.05被认为具有统计学意义。
结果：基因型频率分布的分析结果表明，Mn-SOD的rs4880SNP与纯合变体（CC/CC）基因型（OR2.46；95CI，1.61-3.75；p<0.0001）和相应的变体（C）等位基因频率（OR1.53；95CI，1.25-1.86；p<0.0001）的BC风险显着相关。在CAT基因多态性中，与对照组相比，BC病例的变体（T/T）显着增加（OR3.45;95CI，2.17-5.50;p<0.0001）及其变体（T）等位基因（OR2.01;95CI，1.63-2.48;p<0.0001）。
结论：结果暗示，SOD2-1183T/C多态性的C/C基因型和CAT-262C/T多态性的T/T基因型可能与乳腺癌风险增加有关。然而,与对照组相比，SOD1-251A/G和SOD3-172G/A多态性在患者的纯合基因型变体中没有显示任何显着差异。
