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伊朗西北部女性乳腺癌患者中ADSL(rs3788579)和CYP1A2(rs17861162)基因多态性的患病率

The prevalence of ADSL (rs3788579) and CYP1A2 (rs17861162) polymorphisms in female breast cancer patients in North-West Iran.

作者信息

Valizadeh Osalo Mohammad, Hosseini Parisa, Charkhian Hamed, Soltanzadeh Hossien, Goharkhany Selda, Tuncer Seref Bugra

机构信息

Department of Genetics, Bonab Branch, Islamic Azad University, Bonab, Iran.

Department of Biotechnology, Urmia Branch, Islamic Azad University, Urmia, Iran.

出版信息

Discov Oncol. 2024 Mar 3;15(1):59. doi: 10.1007/s12672-024-00919-z.

DOI:10.1007/s12672-024-00919-z
PMID:38433141
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10909800/
Abstract

INTRODUCTION

Breast cancer is a prevalent and significant contributor to cancer-related mortality among women worldwide. Its increasing incidence, especially in regions like North-West Iran, necessitates a deeper understanding of genetic factors contributing to its development. Genetic alterations, particularly single nucleotide polymorphisms (SNPs), are implicated in breast cancer susceptibility, making investigation in this context crucial. This study explores the role of CYP1A2-rs17861162 and ADSL-rs3788579 SNPs in breast cancer risk among Iranian women.

METHODS

This study involved 200 female breast cancer patients and 200 healthy controls in North-West Iran. DNA was extracted from blood samples, and PCR-RFLP was used for genotyping the CYP1A2 and ADSL genes.

RESULTS

The CYP1A2-rs17861162 SNP exhibited a shift from the C allele to the G allele in breast cancer patients, resulting in a 21.7% decrease in CC genotype frequency and a 21.6% and 77.8% increase in CG and GG genotypes, respectively, compared to controls. In ADSL-rs3788579 SNP, breast cancer patients had a significantly higher prevalence of the T allele, with a 28.5% increase compared to controls. In healthy participants, CC was most common, while in the breast cancer group, TT was most common.

CONCLUSION

This study highlights significant genetic alterations in CYP1A2-rs17861162 and ADSL-rs3788579 SNPs among breast cancer patients in North-West Iran, suggesting their potential as diagnostic and prognostic biomarkers. Further research is warranted to elucidate the precise mechanisms underlying their contributions to breast cancer susceptibility in this population.

摘要

引言

乳腺癌是全球女性中普遍存在且对癌症相关死亡率有重大影响的疾病。其发病率不断上升,尤其是在伊朗西北部等地区,这就需要更深入地了解导致其发生发展的遗传因素。基因改变,特别是单核苷酸多态性(SNP),与乳腺癌易感性有关,因此在这方面的研究至关重要。本研究探讨了CYP1A2 - rs17861162和ADSL - rs3788579单核苷酸多态性在伊朗女性乳腺癌风险中的作用。

方法

本研究涉及伊朗西北部的200名女性乳腺癌患者和200名健康对照者。从血液样本中提取DNA,并使用聚合酶链反应 - 限制性片段长度多态性(PCR - RFLP)对CYP1A2和ADSL基因进行基因分型。

结果

在乳腺癌患者中,CYP1A2 - rs17861162单核苷酸多态性表现出从C等位基因向G等位基因的转变,与对照组相比,CC基因型频率降低了21.7%,CG和GG基因型频率分别增加了21.6%和77.8%。在ADSL - rs3788579单核苷酸多态性中,乳腺癌患者中T等位基因的患病率显著更高,与对照组相比增加了28.5%。在健康参与者中,CC最常见,而在乳腺癌组中,TT最常见。

结论

本研究突出了伊朗西北部乳腺癌患者中CYP1A2 - rs17861162和ADSL - rs3788579单核苷酸多态性的显著基因改变,表明它们作为诊断和预后生物标志物的潜力。有必要进一步研究以阐明它们在该人群中对乳腺癌易感性贡献的精确机制。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4973/10909800/3dc928a4bbef/12672_2024_919_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4973/10909800/3dc928a4bbef/12672_2024_919_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4973/10909800/3dc928a4bbef/12672_2024_919_Fig1_HTML.jpg

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