Shaker Olfat, Taha Fatma, Salah Maha, El-Marzouky Mohamed
Departments of Medical Biochemistry & Molecular Biology and General Surgery, Faculty of Medicine, Cairo University, Cairo, Egypt.
J Med Biochem. 2015 Oct;34(4):393-401. doi: 10.2478/jomb-2014-0067. Epub 2015 Sep 19.
The aim of this study was to investigate the association between LAPTM4B gene polymorphism and the risk of breast cancer among Egyptian female patients. Also, measurement was done of its serum level to evaluate its significance as a diagnostic marker for breast cancer.
This case control study was done on 88 breast cancer patients, 40 with fibroadenoma and 80 healthy subjects. Genotyping of the LAPTM4B polymorphism was determined by PCR. Serum LAPTM4B level was measured using ELISA.
There was a significant difference in the (*1/2+ 2/2) genotypes in breast cancer patients (59.1) compared to the control subjects (43.8%) (P=0.047; OR=1.86; 95% CI =1.01-3.43). The frequency of the allele 2 of the LAPTM4B gene was significantly higher in breast cancer patients (36.4%) than in the control (25.6%) (p=0.034; OR=1.66; 95% CI =1.04-2.65). Genotypes (*1/2+*2/2) were significantly associated with the differential classification of TNM. Serum level of LAPTM4B was significantly higher in breast cancer patients than in control and fibroadenoma and in fibroadenoma patients than in control. In breast cancer patients, serum LAPTM4B was significantly higher in stage III and in large tumor size. Serum LAPTM4B was significantly higher in the cancer patients' genotypes (*1/2+*2/2).
Genetic polymorphism of LAPTM4B is a potential risk factor for the development of breast cancer. Serum LAPTM4B may be used as a diagnostic and prognostic marker for breast cancer.
本研究旨在调查埃及女性乳腺癌患者中LAPTM4B基因多态性与乳腺癌风险之间的关联。此外，还对其血清水平进行了测量，以评估其作为乳腺癌诊断标志物的意义。
本病例对照研究对88例乳腺癌患者、40例纤维腺瘤患者和80例健康受试者进行。通过聚合酶链反应（PCR）确定LAPTM4B多态性的基因分型。使用酶联免疫吸附测定（ELISA）测量血清LAPTM4B水平。
与对照组（43.8%）相比，乳腺癌患者中（*1/2 + 2/2）基因型存在显著差异（59.1%）（P = 0.047；比值比[OR]=1.86；95%置信区间[CI]=1.01 - 3.43）。LAPTM4B基因2等位基因在乳腺癌患者中的频率（36.4%）显著高于对照组（25.6%）（p = 0.034；OR = 1.66；95% CI = 1.04 - 2.65）。基因型（*1/2 + *2/2）与TNM分期分类存在显著关联。乳腺癌患者血清LAPTM4B水平显著高于对照组和纤维腺瘤患者，纤维腺瘤患者血清LAPTM4B水平高于对照组。在乳腺癌患者中，III期和肿瘤体积较大者血清LAPTM4B显著更高。癌症患者基因型（*1/2 + *2/2）的血清LAPTM4B显著更高。
LAPTM4B基因多态性是乳腺癌发生的潜在危险因素。血清LAPTM4B可作为乳腺癌的诊断和预后标志物。
