文章：

BRCA1与BRCA2基因单核苷酸多态性与甲状腺乳头状癌风险的相关性研究

Single-Nucleotide Polymorphisms of BRCA1 and BRCA2 and Risk of Papillary Thyroid Carcinoma

原文发布日期：26 April 2025

DOI: 10.3390/cancers17091456

类型: Article

开放获取: 是

英文摘要：

Background/Objectives: We sought to evaluate the association between the risk of papillary thyroid carcinoma (PTC) and single-nucleotide polymorphisms (SNPs) of breast cancer genes 1 (BRCA1) and 2 (BRCA2).Methods: We prospectively recruited 515 cases with PTC and 296 controls without cancer. The genotypes of fiveBRCA1SNPs (rs8176318, rs1799966, rs799917, rs16940, rs1799949) and threeBRCA2SNPs (rs15869, rs1799943, rs1799955) were determined using the TaqMan assay. We evaluated the association of haplotypes with the risk of PTC due to linkage disequilibrium (LD).Results: The fiveBRCA1SNPs were significantly associated with the risk of PTC. The AC genotype of rs8176318 (OR = 0.69,p= 0.02) and the CT and CC genotypes of rs1799966 (OR = 0.70,p= 0.02 and OR = 0.67,p= 0.01, respectively) were associated with a decreased risk of PTC. The AG genotype of rs16940 (OR = 0.67,p= 0.01) and the AG genotypes of rs799917 and rs1799949 (both OR = 0.70,p= 0.02) decreased the risk of PTC. Haplotype 1 [rs8176318(C)-rs1799966(T)-rs799917(G)-rs16940(A)-rs1799949(G)] ± (OR = 0.69,p= 0.02) and haplotype 2 [rs8176318(A)-rs1799966(C)-rs799917(A)-rs16940(G)-rs1799949(A)] ± (OR = 0.71,p= 0.03) ofBRCA1reduced the risk of PTC.Conclusions: Our findings suggest that the polymorphisms ofBRCA1may contribute to the susceptibility to PTC in the Korean population.

摘要翻译： 

背景/目的：本研究旨在评估乳腺癌基因1（BRCA1）和2（BRCA2）的单核苷酸多态性（SNPs）与甲状腺乳头状癌（PTC）风险之间的关联。方法：我们前瞻性招募了515例PTC患者和296例无癌症对照者。采用TaqMan检测法测定五个BRCA1 SNPs（rs8176318、rs1799966、rs799917、rs16940、rs1799949）和三个BRCA2 SNPs（rs15869、rs1799943、rs1799955）的基因型。由于连锁不平衡（LD）的存在，我们进一步评估了单倍型与PTC风险的关联。结果：五个BRCA1 SNPs与PTC风险显著相关。其中，rs8176318的AC基因型（OR = 0.69，p = 0.02）以及rs1799966的CT和CC基因型（OR分别为0.70，p = 0.02和0.67，p = 0.01）与PTC风险降低相关。rs16940的AG基因型（OR = 0.67，p = 0.01）以及rs799917和rs1799949的AG基因型（OR均为0.70，p = 0.02）同样降低了PTC风险。BRCA1的单倍型1 [rs8176318(C)-rs1799966(T)-rs799917(G)-rs16940(A)-rs1799949(G)] ±（OR = 0.69，p = 0.02）和单倍型2 [rs8176318(A)-rs1799966(C)-rs799917(A)-rs16940(G)-rs1799949(A)] ±（OR = 0.71，p = 0.03）均显示出降低PTC风险的作用。结论：我们的研究结果表明，BRCA1基因的多态性可能影响韩国人群对PTC的易感性。

原文链接：

Single-Nucleotide Polymorphisms of BRCA1 and BRCA2 and Risk of Papillary Thyroid Carcinoma