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人8-氧代鸟嘌呤DNA糖基化酶1(hOGG1)丝氨酸326位半胱氨酸的基因多态性及其与查谟和克什米尔地区乳腺癌的关联

Genetic polymorphism of hOGG1 ser326cys and its association with breast cancer in Jammu and Kashmir.

作者信息

Nagpal Ashna, Verma Sonali, Shah Ruchi, Bhat Ghulam R, Bhat Amrita, Bakshi Divya, Sharma Bhanu, Kaul Sandeep, Kumar Rakesh

机构信息

School of Biotechnology, Shri Mata Vaishno Devi University, Katra, Jammu and Kashmir, India.

Department of Oncology, Shri Mata Vaishno Devi Superspeciality Narayana Hospital, Katra, Jammu and Kashmir, India.

出版信息

Indian J Cancer. 2020 Apr-Jun;57(2):187-189. doi: 10.4103/ijc.IJC_676_18.

Abstract

BACKGROUND

8-Oxo-7, 8-dihydro-2'-deoxyguanosine (8-oxodG) is a potent DNA damage marker that leads to cellular oxidative stress. It is a DNA-repair enzyme that participates in "8-oxodG" DNA adducts removal. Previous studies show weak associations of rs1052133 (hOGG1) in breast cancer patients of Northern India. We performed this study to explore the variant rs1052133 (hOGG1) with breast in the population of Jammu and Kashmir (J and K).

METHOD

A polymerase chain reaction-restriction fragment length polymorphism -based single-nucleotide polymorphism (SNP) genotypic study was carried out in peripheral blood samples of 165 breast cancer patients and 200 healthy controls, using specific primers. Sanger sequencing verified the results.

RESULTS

hOGG1-Ser326Cys polymorphism occurred frequently in cases as compared with controls. Data were evaluated by SPSS V.13 software, following Hardy-Weinberg equilibrium (P = 0.002 at OR 2.57; 95% CI [1.68-3.93]), which showed that the SNP rs1052133 had a significant association with increased risk of breast cancer.

CONCLUSION

Overall, the results of this analysis show that the hOGG1-Ser326Cys polymorphism may be associated with an increased risk for breast cancer in the J and K population.

摘要

背景

8-氧代-7,8-二氢-2'-脱氧鸟苷(8-氧代脱氧鸟苷,8-oxodG)是一种强效的DNA损伤标志物,可导致细胞氧化应激。它是一种DNA修复酶,参与“8-氧代脱氧鸟苷”DNA加合物的清除。先前的研究表明,印度北部乳腺癌患者中rs1052133(hOGG1)存在弱关联。我们开展这项研究,以探究查谟和克什米尔(J和K)人群中rs1052133(hOGG1)基因变异与乳腺癌的关系。

方法

采用基于聚合酶链反应-限制性片段长度多态性的单核苷酸多态性(SNP)基因分型研究,使用特异性引物对165例乳腺癌患者和200例健康对照者的外周血样本进行检测。桑格测序验证结果。

结果

与对照组相比,hOGG1-Ser326Cys多态性在病例组中频繁出现。数据采用SPSS V.13软件进行评估,符合哈迪-温伯格平衡(优势比为2.57时P = 0.002;95%可信区间[1.68 - 3.93]),这表明SNP rs1052133与乳腺癌风险增加显著相关。

结论

总体而言,该分析结果表明,hOGG1-Ser326Cys多态性可能与J和K人群中乳腺癌风险增加有关。

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