遗传特征:CD44 单核酸多态性影响细胞表面表达并增加头部和部状细胞癌的风险
Muhammad Kashif1,2, Shah Jahan3, Sadia Minhas4
1Department of Oral Pathology, University of Health Sciences, Lahore, Pakistan.
JCO global oncology
|October 31, 2024
概括
CD44 rs13347单核酸多态性 (SNP) 与头部和部状细胞癌 (HNSCC) 的更高风险有关. 这种变异还与瘤细胞中CD44表达的减少有关.
科学领域:
- 遗传学 遗传学 是一个
- 在瘤学瘤学.
- 分子生物学分子生物学
背景情况:
- CD44基因在细胞粘附和迁移中起着至关重要的作用,其失调与各种癌症有关.
- 在CD44基因中的单核酸多态 (SNPs) 可能会影响蛋白质表达和癌症易感性.
研究的目的:
- 调查CD44基因多态 (rs13347和rs187115) 与头部和部状细胞癌 (HNSCC) 的风险之间的关联.
- 评估这些SNP对细胞表面CD44蛋白表达的影响.
主要方法:
- 在85名HNSCC患者和85名对照中使用桑格测序对CD44 rs13347和rs187115SNP进行基因定型.
- 通过免疫组织化学 (IHC) 和流细胞测量评估CD44细胞表面表达.
- 使用GTEx和RegulomeDB进行生物信息分析,以预测基因调节的变异效应.
主要成果:
- CD44 rs13347 SNP,特别是TT基因型,显示出与增加HNSCC风险的显著关联 (OR=8.69,P=.0003).
- 在CD44 rs187115和HNSCC风险之间没有发现显著的关联.
- CD44 rs13347基因型与年龄相关,CD44阳性瘤细胞数量,染色强度和免疫活性得分.
结论:
- CD44 rs13347的T等位基因和TT基因型与对HNSCC的更高敏感性有关.
- 这种SNP与减少CD44表达有关,由较少的阳性瘤细胞,较低的染色强度和降低的免疫活性得分表明.
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