Surgical Oncology, The Second Affiliated Hospital of Hainan Medical College, Haikou, Hainan Province, China.
Mol Genet Genomic Med. 2019 Aug;7(8):e848. doi: 10.1002/mgg3.848. Epub 2019 Jul 8.
Polypeptide N-acetylgalactosaminyltransferase 16 (GALNT16) is an N-acetylgalactosaminyltransferase gene that alters protein O-glycosylation, which plays a role in tumor development. This study aims to explore the association of eight GALNT16 polymorphisms with susceptibility to breast cancer (BC).
This case-control study included 563 BC patients and 552 age-matched healthy controls from the Chinese Han population. The genotypes of GALNT16 polymorphisms were detected using the Agena MassARRAY. The relationship between GALNT16 polymorphisms and BC risk was evaluated using a chi-squared test with an odds ratio (OR) and 95% confidence intervals (CI) under five genetic models.
We observed that rs2105269 and rs72625676 were associated with higher BC risk in younger patients with age ≤51 (rs2105269, codominant: p = .006; recessive: p = .005 additive: p = .018; and allele: p = .012; rs72625676, codominant: p = .038; recessive: p = .037). For rs1275678 polymorphism, there was a significantly decreased risk of BC among elder patients (codominant: p = .017; dominant: p = .019; additive: p = .030; and allele: p = .029). Further analysis by clinical characteristics showed rs2105269 was associated with tumor size and lymph node metastasis.
Our study suggests that GALNT16 polymorphisms are associated with BC susceptibility in Chinese population.
多肽 N-乙酰氨基半乳糖基转移酶 16（GALNT16）是一种改变蛋白质 O-糖基化的 N-乙酰氨基半乳糖基转移酶基因，在肿瘤发生中起作用。本研究旨在探讨 8 种 GALNT16 多态性与乳腺癌（BC）易感性的关系。
本病例对照研究纳入了来自中国汉族人群的 563 例 BC 患者和 552 名年龄匹配的健康对照者。采用 Agena MassARRAY 检测 GALNT16 多态性的基因型。采用卡方检验和优势比（OR）及其 95%置信区间（CI）在 5 种遗传模型下评估 GALNT16 多态性与 BC 风险的关系。
我们发现 rs2105269 和 rs72625676 与≤51 岁的年轻患者（rs2105269，显性：p=.006；隐性：p=.005；加性：p=.018；等位基因：p=.012；rs72625676，显性：p=.038；隐性：p=.037）的 BC 风险增加相关。对于 rs1275678 多态性，在年龄较大的患者中（显性：p=.017；显性：p=.019；加性：p=.030；等位基因：p=.029），BC 的风险显著降低。通过临床特征的进一步分析表明，rs2105269 与肿瘤大小和淋巴结转移有关。
本研究表明，GALNT16 多态性与中国人群的 BC 易感性有关。
