Farhan Jamil, Mohammad Mahfuz Enam Elahi, Al-Shahriar Evan, Sakif Ahamed Khan, Israt Jahan Annee, Furhatun-Noor, Ankita Islam, Rana Tabassum, Md. Aminul Haque
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引用次数: 0
Abstract
Objectives
Breast cancer is one of the most common malignancies in women. The PD1 and MTNR1B gene polymorphisms have been extensively studied for their potential role in cancer susceptibility. This study aimed to investigate associations between breast cancer risk and PD1 (rs36084323) and MTNR1B (rs10830963) polymorphisms.
Methods
A case–control study was conducted with 112 breast cancer patients from Dhaka Cancer and General Hospital, Bangladesh, and 124 age- and sex-matched healthy controls. Genotyping of PD1 (rs36084323) and MTNR1B (rs10830963) polymorphisms was performed using the Polymerase Chain Reaction–Restriction Fragment Length Polymorphism (PCR-RFLP) method.
Results
The genotype distributions for both SNPs adhered to Hardy–Weinberg equilibrium (HWE). The PD1 GG genotype was more prevalent in controls, indicating a protective effect, whereas the GG genotype of MTNR1B showed no statistically significant association with breast cancer risk. The recessive model of PD1 (GG vs. AG + AA) demonstrated a lower odds ratio (0.2873), while the recessive model of MTNR1B (2.307) suggested a potential risk. Dominant models for both genes (AG + GG vs. AA for PD1 and CG + GG vs. CC for MTNR1B) showed statistically significant associations with breast cancer susceptibility.
Conclusion
The PD1 GG genotype exhibited a significant protective effect against breast cancer, while the MTNR1B CG genotype was associated with reduced risk, but GG showed no correlation. Larger studies across diverse populations are recommended to validate these findings.
目的：乳腺癌是女性最常见的恶性肿瘤之一。PD1和MTNR1B基因多态性在癌症易感性中的潜在作用已被广泛研究。本研究旨在探讨乳腺癌风险与PD1 （rs36084323）和MTNR1B （rs10830963）多态性之间的关系。方法：对来自孟加拉国达卡癌症综合医院的112例乳腺癌患者和124例年龄和性别匹配的健康对照进行病例对照研究。采用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）方法对PD1 （rs36084323）和MTNR1B （rs10830963）多态性进行基因分型。结果：两个snp的基因型分布符合Hardy-Weinberg平衡（HWE）。PD1 GG基因型在对照组中更为普遍，表明其具有保护作用，而MTNR1B的GG基因型与乳腺癌风险无统计学意义的关联。PD1隐性模型（GG vs. AG + AA）的优势比较低（0.2873），而MTNR1B隐性模型（2.307）提示存在潜在风险。两种基因的优势模型（PD1的AG + GG vs. AA和MTNR1B的CG + GG vs. CC）显示与乳腺癌易感性有统计学意义的关联。结论：PD1 GG基因型对乳腺癌具有显著的保护作用，而MTNR1B CG基因型与降低乳腺癌风险相关，但GG无相关性。建议在不同人群中进行更大规模的研究来验证这些发现。
期刊介绍：
Journal of Clinical Laboratory Analysis publishes original articles on newly developing modes of technology and laboratory assays, with emphasis on their application in current and future clinical laboratory testing. This includes reports from the following fields: immunochemistry and toxicology, hematology and hematopathology, immunopathology, molecular diagnostics, microbiology, genetic testing, immunohematology, and clinical chemistry.
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