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基因 rs3116496 多态性与中国女性乳腺癌风险的关联。

The association between gene rs3116496 polymorphism and breast cancer risk in Chinese women.

机构信息

Department of Surgical Oncology, Wenzhou Central Hospital,32 Dajianxiang Road, Wenzhou, Zhejiang, China.

Department of Surgical Oncology, Wenzhou Central Hospital,32 Dajianxiang Road, Wenzhou, Zhejiang, China

出版信息

Biosci Rep. 2017 Dec 12;37(6). doi: 10.1042/BSR20170884. Print 2017 Dec 22.

DOI:10.1042/BSR20170884
PMID:29089469
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5725608/
Abstract

T-lymphocyte activation plays an important role in suppressing the development of human cancers including breast cancer (BC). Cluster of differentiation 28 (CD28) is the primary T-cell costimulatory molecule and enhances T-cell activation and proliferation. To examine the role of CD28 gene polymorphism in BC, we conducted a case-control study involving 312 BC patients and 312 controls in a Chinese Han population. Bioinformatics analyses were conducted to analyze the expression level of CD28 and its association with overall survival (OS) of BC. Genotyping was performed using a custom-by-design 48-Plex single nucleotide polymorphism (SNP) Scan™ Kit. Our results indicated that CD28 mRNA level was down-regulated in the BC patients, whereas high expression of CD28 showed better OS for BC. In addition, an increased risk of BC was associated with the rs3116496 CC genotype of gene (CC vs. TT). The significant association was also observed in the recessive model. In conclusion, CD28 may be a tumor suppressor gene and rs3116496 polymorphism of gene showed positively correlation with the increased risk of BC. However, larger studies with more diverse ethnic populations are needed to confirm these results.

摘要

T 淋巴细胞的激活在抑制包括乳腺癌(BC)在内的人类癌症的发展中起着重要作用。CD28 是主要的 T 细胞共刺激分子,可增强 T 细胞的激活和增殖。为了研究 CD28 基因多态性在 BC 中的作用,我们在中国汉族人群中进行了一项病例对照研究,共纳入 312 例 BC 患者和 312 例对照。通过生物信息学分析,我们分析了 CD28 的表达水平及其与 BC 总生存(OS)的关系。采用定制的 48-Plex 单核苷酸多态性(SNP)Scan™试剂盒进行基因分型。结果表明,BC 患者的 CD28 mRNA 水平下调,而 CD28 的高表达显示 BC 的 OS 更好。此外,基因 rs3116496 的 CC 基因型(CC 与 TT 相比)与 BC 的发病风险增加相关。在隐性模型中也观察到了显著的相关性。总之,CD28 可能是一种肿瘤抑制基因,基因 rs3116496 多态性与 BC 发病风险的增加呈正相关。然而,需要更大规模、更多样化的种族人群研究来证实这些结果。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3aef/5725608/1e81af6d8a1a/bsr-37-bsr20170884-g2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3aef/5725608/ef999096340e/bsr-37-bsr20170884-g1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3aef/5725608/1e81af6d8a1a/bsr-37-bsr20170884-g2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3aef/5725608/ef999096340e/bsr-37-bsr20170884-g1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3aef/5725608/1e81af6d8a1a/bsr-37-bsr20170884-g2.jpg

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