HNF1B多态性与子宫内膜癌风险：已鉴定位点的验证和新变异的评估。

IF 3.9 3区医学 Q1 PATHOLOGY

Expert Review of Molecular Diagnostics Pub Date : 2024-12-04 DOI:10.1080/14737159.2024.2436397

Fang Liu, Chunmei Li, Man Di, Boqi Shu, Xifeng Xiao

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引用次数: 0

摘要

背景：本研究旨在验证HNF1B单核苷酸多态性（snp）与中国汉族人群子宫内膜癌风险的相关性，并探索新的snp。我们的发现增强了对遗传成分的理解，对检测策略和个性化医疗至关重要。方法：采用Agena MassARRAY对637例患者和667例对照组的4个HNF1B snp进行基因分型。Logistic回归计算优势比（ORs）和95% CI。森林图可视化分层分析。多重比较检验了基因位点与临床指标的关联。结果：研究证实rs4430796 （A>G）降低子宫内膜癌风险（OR = 0.83, 95% CI: 0.70-0.99, p = 0.041）。此外，新的HNF1B突变与子宫内膜癌风险相关：55岁以下个体的rs7405776 （OR = 047, 95% CI: 0.25-0.91, p = 0.025）和非吸烟者（OR = 0.42, 95% CI: 0.23-0.75, p = 0.004），饮酒者（OR = 0.39, 95% CI: 0.17-0.90, p = 0.027）和非吸烟者（OR = 0.43, 95% CI: 0.23-0.81, p = 0.009）的rs11651755。SNP rs4430796也与CA125水平相关(p结论：HNF1B多态性影响中国汉族人群子宫内膜癌的风险。这些snp的功能作用和临床实用性有待进一步研究。

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HNF1B polymorphisms and endometrial cancer risk: validation of identified loci and evaluation of novel variants.

Background: This study aimed to validate HNF1B single nucleotide polymorphisms (SNPs) associated with endometrial cancer risk in a Chinese Han population and explore novel SNPs. Our findings enhance the understanding of genetic components and are crucial for detection strategies and personalized medicine.

Methods: We genotyped four HNF1B SNPs in 637 patients and 667 controls using Agena MassARRAY. Logistic regression calculated odds ratios (ORs) and 95% CI. Forest plots visualize stratified analyses. Multiple comparisons tested genetic loci-clinical indicator associations.

Results: The study confirmed that rs4430796 (A>G) reduced endometrial cancer risk (OR = 0.83, 95% CI: 0.70-0.99, p = 0.041). Additionally, novel HNF1B mutations were associated with endometrial cancer risk: rs7405776 in individuals under the age of 55 (OR = 047, 95% CI: 0.25-0.91, p = 0.025) and nonsmokers (OR = 0.42, 95% CI: 0.23-0.75, p = 0.004), and rs11651755 in drinkers (OR = 0.39, 95% CI: 0.17-0.90, p = 0.027) and nonsmokers (OR = 0.43, 95% CI: 0.23-0.81, p = 0.009). The SNP rs4430796 was also associated with the CA125 level (p < 0.05).

Conclusion: HNF1B polymorphisms influence endometrial cancer risk in the Chinese Han population. Further studies are needed to explore the functional roles and clinical practicality of these SNPs.

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来源期刊

Expert Review of Molecular Diagnostics 医学-病理学

CiteScore

6.60

自引率

0.00%

发文量

审稿时长

1 months

期刊介绍： Expert Review of Molecular Diagnostics (ISSN 1473-7159) publishes expert reviews of the latest advancements in the field of molecular diagnostics including the detection and monitoring of the molecular causes of disease that are being translated into groundbreaking diagnostic and prognostic technologies to be used in the clinical diagnostic setting. Each issue of Expert Review of Molecular Diagnostics contains leading reviews on current and emerging topics relating to molecular diagnostics, subject to a rigorous peer review process; editorials discussing contentious issues in the field; diagnostic profiles featuring independent, expert evaluations of diagnostic tests; meeting reports of recent molecular diagnostics conferences and key paper evaluations featuring assessments of significant, recently published articles from specialists in molecular diagnostic therapy. Expert Review of Molecular Diagnostics provides the forum for reporting the critical advances being made in this ever-expanding field, as well as the major challenges ahead in their clinical implementation. The journal delivers this information in concise, at-a-glance article formats: invaluable to a time-constrained community.