Department of cardiology, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Science and Peking Union Medical College, Beijing 100037, China.
Department of cardiology, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Science and Peking Union Medical College, Beijing 100037, ChinaGuangxi Zhuang Autonomous Region Center for Disease Prevention and Control, Nanning 530028, Guangxi, China.
Biomed Environ Sci. 2018 Nov;31(11):787-796. doi: 10.3967/bes2018.106.
The aim of this study is to establish whether cyclin-dependent kinase inhibitor 2B antisense RNA 1 (CDKN2B-AS1) gene polymorphisms are associated with premature triple-vessel disease (PTVD).
Nine single-nucleotide polymorphisms (rs1063192, rs10757274, rs1333042, rs1333049, rs2285327, rs3217986, rs3217992, rs4977574, and rs9632884) were genotyped in 884 PTVD patients and 907 control subjects (males ⪕ 50 years old and females ⪕ 60 years old) using the improved multiplex ligase detection reaction method.
The allele frequencies of rs10757274 G, rs1333049 C, rs4977574 G (all P < 0.001), and rs3217986 G (P = 0.040) were significantly higher in the PTVD group than in the control group, but those of rs1063192 A, rs1333042 G, and rs9632884 C (all P < 0.001) were significantly lower in the former than in the latter. Logistic regression analysis revealed that homozygote AA of rs1333042 is associated with decreased risk for PTVD (OR = 0.42, 95% CI: 0.22-0.82, P = 0.011). In addition, the allele frequencies observed differed between genders. The G allele of rs3217986 was associated with increased risk for PTVD in male patients only (OR = 2.94, 95% CI: 1.27-6.80, P = 0.012) in the dominant model, and no positively mutated allele was found in female patients.
Polymorphisms of the CDKN2B-AS1 gene are associated with the incidence of PTVD in the Chinese population. Furthermore, the frequencies of mutated alleles differed between genders.
本研究旨在探讨细胞周期蛋白依赖性激酶抑制剂 2B 反义 RNA 1（CDKN2B-AS1）基因多态性与早发三血管病变（PTVD）之间的关系。
采用改良多重连接酶检测反应法对 884 例 PTVD 患者（男性年龄≥50 岁，女性年龄≥60 岁）和 907 例对照者（男性年龄≥50 岁，女性年龄≥60 岁）的 9 个单核苷酸多态性（rs1063192、rs10757274、rs1333042、rs1333049、rs2285327、rs3217986、rs3217992、rs4977574 和 rs9632884）进行基因分型。
PTVD 组的 rs10757274G、rs1333049C、rs4977574G（均 P＜0.001）和 rs3217986G（P=0.040）等位基因频率显著高于对照组，而 rs1063192A、rs1333042G 和 rs9632884C（均 P＜0.001）等位基因频率显著低于对照组。Logistic 回归分析显示，rs1333042 纯合子 AA 与 PTVD 风险降低相关（OR=0.42，95%CI：0.22-0.82，P=0.011）。此外，不同性别之间的等位基因频率也存在差异。rs3217986 的 G 等位基因仅与男性 PTVD 患者的患病风险增加相关（OR=2.94，95%CI：1.27-6.80，P=0.012），而在女性患者中未发现阳性突变等位基因。
CDKN2B-AS1 基因多态性与中国人群 PTVD 的发生有关。此外，不同性别的突变等位基因频率存在差异。
