PO.CL01.19 · 临床研究
CXCL12 rs1801157 G/A单核苷酸多态性与孟加拉国女性乳腺癌患病率及风险的关联
Association of CXCL12 rs1801157 G/A single-nucleotide polymorphism with prevalence and risk of breast cancer in Bangladeshi women
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摘要 Abstract
中文摘要
背景：乳腺癌仍是孟加拉国女性最常见的癌症。趋化因子在与CXCR4结合后促进细胞内信号传导以推动细胞增殖方面发挥重要作用。CXCL12在肿瘤发展和癌症转移的不同阶段起关键作用。本病例对照研究评估了CXCL12/SDF1基因单核苷酸多态性（SNP）rs1801157 G/A对乳腺癌患者的影响。
目的：本研究旨在探讨CXCL12/SDF1基因单核苷酸多态性（SNP）rs1801157与孟加拉国女性乳腺癌患病率及风险的关联。我们还旨在寻找乳腺癌患者病理生理变量与多态性基因型之间的相关性。
材料与方法：本研究纳入130例乳腺癌患者和142例年龄匹配的健康对照者。从乳腺癌患者和健康对照者采集的静脉血中分离基因组DNA。采用PCR-RFLP（聚合酶链反应后进行限制性片段长度多态性分析）法，使用一种限制性内切酶进行基因分型。
结果：在乳腺癌病例中，野生型纯合子G/G、杂合子G/A和变异纯合子A/A的频率分别为59%、31%和10%，而对照组分别为56%、38%和8%。乳腺癌病例的粗基因型频率与对照组几乎相似。与CXCL12的纯合子G/G基因型相比，杂合子G/A基因型（OR= 0.7992，95% CI=0.4784至1.3352，p=0.3921）和变异纯合子A/A基因型（OR= 1.7105，95% CI = 0.6715至4.3572，p=0.2605）均未发现与乳腺癌患病率显著相关。患者中G和A的含量分别为74%和26%，而对照组分别为75%和25%。然而，当与病理生理特征比较时，我们发现变异基因型使非母乳喂养个体的乳腺癌风险较母乳喂养个体增加11倍（X²= 11.4953；p =.00319）。
结论：rs1801157 SNP可能对孟加拉国女性的乳腺癌风险有影响。然而，仍需更大样本量的进一步研究来得出结论。
查看英文原文 English abstract
Background: Breast cancer remains the most common cancer among women in Bangladesh. Chemokines play an important role in facilitating intracellular signaling after binding with CXCR4 to promote cell proliferation. CXCL12 plays a pivotal in different stages of tumor development and cancer metastasis. The case-control study assessed the impact of the single-nucleotide polymorphism (SNP) rs1801157 G/A in CXCL12/SDF1 gene in breast cancer patients.
Objective: This study aimed to investigate the association of the single-nucleotide polymorphism (SNP) rs1801157 in CXCL12/SDF1 gene with the prevalence and risk of breast cancer among Bangladeshi women. We also aimed at finding correlation between pathophysiologic variables and polymorphic genotypes in breast cancer patients.
Materials and Methods: The study included 130 breast cancer patients and 142 age matched healthy controls. Genomic DNA was isolated from venous blood collected from breast cancer patients and healthy controls. Genotyping was carried out by PCR‐RFLP (polymerase chain reaction followed by restriction fragment length polymorphism) using a restriction enzyme.
Results: The frequencies of the wild type homozygous G/G, heterozygous G/A and variant homozygous A/A were 59%, 31%, and 10% in breast cancer cases whereas in controls were 56%, 38%, and 8%, respectively. The crude genotypic frequencies in breast cancer cases were almost similar to those of the controls. Compared with the homozygous G/G genotype of CXCL12, heterozygous G/A genotypes (OR= 0.7992, 95% CI=0.4784 to 1.3352, p=0.3921) and variant homozygous A/A genotypes (OR= 1.7105, 95% CI = 0.6715 to 4.3572, p=0.2605) were found not to be significantly associated breast cancer prevalence. The G and A content were 74% and 26% respectively for patients whereas it was 75% and 25% for control group, respectively. However, when compared with pathophysiologic characteristics, we found that variant genotypes increased the risk of breast cancer 11 times in non-breast-feeding individuals when compared to breast feeding individuals (X 2 = 11.4953; p =.00319).
Conclusions: rs1801157 SNP may have impact on breast cancer risk among Bangladeshi females. However, Further studies with higher sample size are required to conclude the findings.
利益披露 Disclosure
M. Rahman, None..
S. Kadir, None..
M. Rahman, None..
A. Hossain, None.