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阿尔及利亚西部人群中XRCC3基因Thr241Met多态性和XPD基因Lys751Gln多态性与结直肠癌风险之间无关联:一项病例对照研究。

No association between XRCC3 Thr241Met and XPD Lys751Gln polymorphisms and the risk of colorectal cancer in West Algerian population: a case-control study.

作者信息

Moghtit Fatima Zohra, Aberkane Meriem Samia, Le Morvan Valérie, Louhibi Lotfi, Bellot Ricardo, Bousahba Abdelkader, Megaiz Ahlem, Fodil Mostefa, Mediene-Benchekor Sounnia, Zemani-Fodil Faouzia, Boudjema Abdallah, Robert Jacques, Saidi-Mehtar Nadhira

机构信息

Laboratoire de Génétique Moléculaire et Cellulaire, Département de Génétique Moléculaire Appliquée, Faculté des sciences de la nature et de la vie, Université des Sciences et de la Technologie d'Oran-Mohamed BOUDIAF-USTOMB, BP 1505, El M'naouer, 31000, Oran, Algeria,

出版信息

Med Oncol. 2014 May;31(5):942. doi: 10.1007/s12032-014-0942-3. Epub 2014 Apr 1.

Abstract

Colorectal cancer (CRC) is a complex and multifactorial disease, in which genetic and environmental factors both seem to play a part. Many epidemiological studies have explored the association between genetic polymorphisms of X-ray repair cross-complementing group 3 (XRCC3) (Thr241Met) and Xeroderma pigmentosum group D (XPD) lysine to glutamine at codon 751 (Lys751Gln) and risk of CRC in various populations; however, the results are controversial. We conducted this case-control study in a West Algerian population to assess the potential role of this genetic polymorphism on the risk of CRC in this population. Genomic DNA was extracted from blood samples collected from 129 sporadic CRC patients and 148 normal controls. The polymorphisms were determined by pyrosequencing technique. The distribution of XRCC3 Thr241Met and XPD Lys751Gln genotypes among controls did not differ significantly from those predicted by the Hardy-Weinberg distribution (p > 0.05). There were no significant differences in the genotypes distribution and allele frequencies between CRC patients and controls. A significant association was found between the combined heterozygous of XRCC3 and homozygous variant of XPD gene and CRC. This is the first study on DNA repair genetic polymorphisms in West Algerian population, and it suggests that the XRCC3 Thr241Met and XPD Lys751Gln polymorphisms may not be associated with the CRC risk in this population.

摘要

结直肠癌(CRC)是一种复杂的多因素疾病,遗传和环境因素似乎都在其中起作用。许多流行病学研究探讨了X射线修复交叉互补基因3(XRCC3)(Thr241Met)和着色性干皮病D组(XPD)第751密码子赖氨酸到谷氨酰胺(Lys751Gln)的基因多态性与不同人群中CRC风险之间的关联;然而,结果存在争议。我们在阿尔及利亚西部人群中进行了这项病例对照研究,以评估这种基因多态性对该人群中CRC风险的潜在作用。从129例散发性CRC患者和148例正常对照者采集的血样中提取基因组DNA。通过焦磷酸测序技术确定多态性。对照组中XRCC3 Thr241Met和XPD Lys751Gln基因型的分布与哈迪-温伯格分布预测的分布无显著差异(p>0.05)。CRC患者和对照组之间的基因型分布和等位基因频率没有显著差异。发现XRCC3的杂合子与XPD基因的纯合变异体组合与CRC之间存在显著关联。这是首次在阿尔及利亚西部人群中进行的关于DNA修复基因多态性的研究,表明XRCC3 Thr241Met和XPD Lys751Gln多态性可能与该人群中的CRC风险无关。

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