BRCA1 基因中的功能性单核苷酸多态性与唾液腺癌风险的关系。
Functional single-nucleotide polymorphisms in the BRCA1 gene and risk of salivary gland carcinoma.
机构信息
Department of Head and Neck Surgery, The University of Texas MD Anderson Cancer Center, Houston, TX 77030, USA.
出版信息
Oral Oncol. 2012 Sep;48(9):842-7. doi: 10.1016/j.oraloncology.2012.03.012. Epub 2012 Apr 12.
OBJECTIVES
Polymorphic BRCA1 is a vital tumor suppressor gene within the DNA double-strand break repair pathways, but its association with salivary gland carcinoma (SGC) has yet to be investigated.
MATERIALS AND METHODS
In a case-control study of 156 SGC patients and 511 controls, we used unconditional logistical regression analyses to investigate the association between SGC risk and seven common functional single-nucleotide polymorphisms (A1988G, A31875G, C33420T, A33921G, A34356G, T43893C and A55298G) in BRCA1.
RESULTS
T43893C TC/CC genotype was associated with a reduction of SGC risk (adjusted odds ratio=0.55, 95% CI: 0.38-0.80, Bonferroni-adjusted p=0.011), which was more pronounced in women, non-Hispanic whites, and individuals with a family history of cancer in first-degree relatives. The interaction between T43893C and family history of cancer was significant (p=0.009). The GATGGCG and AACAACA haplotypes, both of which carry the T43893C minor allele, were also associated with reduced SGC risk.
CONCLUSION
Our results suggest that polymorphic BRCA1, particularly T43893C polymorphism, may protect against SGC.
目的
多态性 BRCA1 是 DNA 双链断裂修复途径中的重要肿瘤抑制基因，但它与唾液腺癌（SGC）的关系尚未得到研究。
材料与方法
在一项 156 例 SGC 患者和 511 例对照的病例对照研究中，我们使用非条件逻辑回归分析来研究 SGC 风险与 BRCA1 中七个常见功能单核苷酸多态性（A1988G、A31875G、C33420T、A33921G、A34356G、T43893C 和 A55298G）之间的关联。
结果
T43893C TC/CC 基因型与 SGC 风险降低相关（调整后的优势比=0.55，95%CI：0.38-0.80，Bonferroni 调整后的 p=0.011），在女性、非西班牙裔白种人和一级亲属中有癌症家族史的个体中更为明显。T43893C 与癌症家族史之间的相互作用具有统计学意义（p=0.009）。携带 T43893C 次要等位基因的 GATGGCG 和 AACAACA 单倍型也与 SGC 风险降低相关。
结论
我们的结果表明，多态性 BRCA1，特别是 T43893C 多态性，可能对 SGC 具有保护作用。
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