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中国北方汉族女性中基因变异对乳腺癌易感性的影响:一项基于人群的病例对照研究

Impacts of Variants on Breast Cancer Susceptibility in Northern Chinese Han Females: A Population-Based Case-Control Study.

作者信息

Peng Linna, Huang Congmei, Xing Shishi, Li Dandan, He Chunjuan, He Yongjun, Yang Wei, Jin Tianbo, Wang Li

机构信息

Key Laboratory of Molecular Mechanism and Intervention Research for Plateau Diseases of Tibet Autonomous Region, School of Medicine, Xizang Minzu University, Xianyang, Shaanxi 712082, China.

Department of Gynecology, The Second Affiliated Hospital of Hainan Medical University, No. 3, College Road, Longhua District, Haikou, Hainan, China.

出版信息

J Oncol. 2021 Aug 28;2021:4990695. doi: 10.1155/2021/4990695. eCollection 2021.

DOI:10.1155/2021/4990695
PMID:34475952
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8407995/
Abstract

BACKGROUND

, also known as was reported to be a -regulated long noncoding RNA (lncRNA), which played an essential role in the pathogenesis of breast cancer (BC). We aimed to observe the potential association between polymorphisms and BC risk in Northern Chinese Han females.

METHODS

Totally, 555 healthy individuals and 561 patients with BC were recruited. Five candidate SNPs (rs6499221, rs3931698, rs8044565, rs3852740, and rs111577197) of were genotyped with the Agena MassARRAY system. Odds ratio (OR) and 95% confidence intervals (CIs) were applied to evaluate the relationship of genetic polymorphisms with BC susceptibility. Additionally, stratification analysis based on clinical features and haplotype analysis were also conducted. Finally, multifactor dimensionality reduction (MDR) analysis was performed to assess the SNP-SNP interaction among LOC105371267 variants, and false-positive report probability (FPRP) analysis was used to validate the result of this study.

RESULTS

In this study, rs3931698 was a protective factor of BC in total (GG homozygote: OR = 0.30, 95% CI: 0.11-0.82, =0.018; recessive model: OR = 0.30, 95% CI: 0.11-0.84, =0.021). In stratification analysis based on the average age of 52 years and clinical characteristics (PR status, III-IV TNM stage), rs3931698 was also demonstrated to be associated with BC susceptibility. In addition, rs6499221 and rs3852740 were also associated with BC susceptibility among patients at age <52 years and patients with BC in a positive status. Thus, the haplotype analysis had a negative result for the incidence of BC ( > 0.05), and haplotype consisting of rs8044565 and rs111577197 was nonsignificantly associated with the BC risk. Finally, MDR and FPRP analyses also validated the result of this study.

CONCLUSION

Polymorphisms rs3931698, rs6499221, and rs3852740 of were found to be associated with the risk of BC in total, and stratification analysis in the Northern Chinese Han females suggested that variants might be helpful to predict BC progression.

摘要

背景

[具体名称],也称为[另一名称],据报道是一种受[具体因素]调控的长链非编码RNA(lncRNA),在乳腺癌(BC)发病机制中起重要作用。我们旨在观察中国北方汉族女性中[具体名称]基因多态性与BC风险之间的潜在关联。

方法

共招募了555名健康个体和561名BC患者。使用Agena MassARRAY系统对[具体名称]的5个候选单核苷酸多态性(SNP,rs6499221、rs3931698、rs8044565、rs3852740和rs111577197)进行基因分型。应用优势比(OR)和95%置信区间(CI)评估[具体名称]基因多态性与BC易感性的关系。此外,还进行了基于临床特征的分层分析和单倍型分析。最后,进行多因素降维(MDR)分析以评估LOC105371267变异之间的SNP-SNP相互作用,并使用假阳性报告概率(FPRP)分析来验证本研究结果。

结果

在本研究中,rs3931698总体上是BC的保护因素(GG纯合子:OR = 0.30,95% CI:0.11 - 0.82,P = 0.018;隐性模型:OR = 0.30,95% CI:0.11 - 0.84,P = 0.021)。在基于52岁平均年龄和临床特征(PR状态、III - IV期TNM分期)的分层分析中,rs3931698也被证明与BC易感性相关。此外,rs6499221和rs3852740在年龄<52岁的患者和PR状态为阳性的BC患者中也与BC易感性相关。因此,单倍型分析对BC发病率的结果为阴性(P>0.05),由rs8044565和rs111577197组成的单倍型与BC风险无显著关联。最后,MDR和FPRP分析也验证了本研究结果。

结论

发现[具体名称]的rs3931698、rs6499221和rs3852740多态性总体上与BC风险相关,在中国北方汉族女性中的分层分析表明[具体名称]变异可能有助于预测BC进展。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/89fb/8407995/b9fdbd0ccc6d/JO2021-4990695.004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/89fb/8407995/fa14383bb5a0/JO2021-4990695.001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/89fb/8407995/970ba90eca54/JO2021-4990695.002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/89fb/8407995/052c2f0f2061/JO2021-4990695.003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/89fb/8407995/b9fdbd0ccc6d/JO2021-4990695.004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/89fb/8407995/fa14383bb5a0/JO2021-4990695.001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/89fb/8407995/970ba90eca54/JO2021-4990695.002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/89fb/8407995/052c2f0f2061/JO2021-4990695.003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/89fb/8407995/b9fdbd0ccc6d/JO2021-4990695.004.jpg

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