错义变异DCLRE1B rs3761936与乳腺癌和宫颈癌风险的关联——一项病例对照研究
Association of missense variant DCLRE1B rs3761936 with breast and cervical cancer risk-A case-control study.
作者信息
Jafrin Sarah, Aziz Md Abdul, Barek Md Abdul, Reza Md Sharif, Naznin Nura Ershad, Islam Mohammad Safiqul
机构信息
Department of Pharmacy, Faculty of Science, Noakhali Science and Technology University, Sonapur, Bangladesh.
Laboratory of Pharmacogenomics and Molecular Biology, Department of Pharmacy, Noakhali Science and Technology University, Noakhali, Bangladesh.
出版信息
PLoS One. 2025 Sep 8;20(9):e0331492. doi: 10.1371/journal.pone.0331492. eCollection 2025.
BACKGROUND
Overexpression of rs3761936 of DCLRE1B gene has been observed in both breast cancer and cervical cancer patients. To justify the association of this polymorphism with these cancers, we performed this case-control study.
METHOD
A total of 245 cancer patients and 108 healthy controls participated in the research. An efficient T-ARMS PCR method was used for genotyping.
RESULTS
The cancer patients showed higher mutant allele frequency compared to the controls. Mutant allele carrier breast cancer patients showed significantly increased risk in four genetic models, including additive model 1 (TC vs. TT: OR=2.31, 95% CI = 1.33-3.99, p-value = 0.0028), additive model 2 (CC vs. TT: OR=3.93, 95% CI = 1.36-11.38, p-value = 0.0116), dominant model (TC + CC vs. TT: OR=2.52, 95% CI = 1.50-4.25, p-value = 0.0005), and over-dominant model (TC vs. TT + CC: OR=1.93, 95% CI = 1.13-3.28, p-value = 0.0152). The allele frequency analysis showed that mutant allele C carriers among breast cancer patients had a significantly higher risk than the wild type T allele carriers (C vs. T: OR=2.15, 95% CI = 1.41-3.26, p-value = 0.0003). Likewise, the cervical cancer patients showed significant risk in three genetic models, including additive model 1 (TC vs. TT: OR=1.80, 95% CI = 1.01-3.20, p-value = 0.0444), additive model 2 (CC vs. TT: OR=3.17, 95% CI = 1.05-9.55, p-value = 0.0403), and dominant model (TC + CC vs. TT: OR=1.98, 95% CI = 1.15-3.41, p-value = 0.0138). The mutant allele C carriers had a significantly higher risk than the wild-type T allele carriers (C vs. T: OR=1.84, 95% CI = 1.19-2.85, p-value = 0.0065).
CONCLUSION
DCLRE1B rs3761936 is strongly associated with breast cancer and cervical cancer risk in Bangladeshi women.
背景
在乳腺癌和宫颈癌患者中均观察到DCLRE1B基因的rs3761936过表达。为了验证这种多态性与这些癌症的关联，我们开展了这项病例对照研究。
方法
共有245例癌症患者和108名健康对照参与了该研究。采用高效的T-ARMS PCR方法进行基因分型。
结果
与对照组相比，癌症患者显示出更高的突变等位基因频率。突变等位基因携带者乳腺癌患者在四种遗传模型中显示出显著增加的风险，包括加性模型1（TC与TT：比值比=2.31，95%置信区间=1.33-3.99，p值=0.0028）、加性模型2（CC与TT：比值比=3.93，95%置信区间=1.36-11.38，p值=0.0116）、显性模型（TC + CC与TT：比值比=2.52，95%置信区间=1.50-4.25，p值=0.0005）和超显性模型（TC与TT + CC：比值比=1.93，95%置信区间=1.13-3.28，p值=0.0152）。等位基因频率分析表明，乳腺癌患者中的突变等位基因C携带者比野生型T等位基因携带者具有显著更高的风险（C与T：比值比=2.15，95%置信区间=1.41-3.26，p值=0.0003）。同样，宫颈癌患者在三种遗传模型中显示出显著风险，包括加性模型1（TC与TT：比值比=1.80，95%置信区间=1.01-3.20，p值=0.0444）、加性模型2（CC与TT：比值比=3.17，95%置信区间=1.05-9.55，p值=0.0403）和显性模型（TC + CC与TT：比值比=1.98，95%置信区间=1.15-3.41，p值=0.0138）。突变等位基因C携带者比野生型T等位基因携带者具有显著更高的风险（C与T：比值比=1.84，95%置信区间=1.19-2.85，p值=0.0065）。
结论
DCLRE1B rs3761936与孟加拉国女性的乳腺癌和宫颈癌风险密切相关。
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