Department of Clinical Laboratory, First Affiliated Hospital of Xinjiang Medical University, Urumqi, 830054, China.
Department of Cardiology, State Key Laboratory of Pathogenesis, Prevention and Treatment of High Incidence Diseases in Central Asian, First Affiliated Hospital of Xinjiang Medical University, Urumqi, 830054, China.
Hereditas. 2021 Apr 27;158(1):16. doi: 10.1186/s41065-021-00180-2.
CCN1 plays a crucial role in the modulation of cardiovascular diseases. However, whether CCN1 genetic variants are involved in the susceptibility of ACS remains unknown. Hence, the present study investigates the association between CCN1 polymorphisms and ACS among Han and Uygur populations in Xinjiang, China.
In this case-control study, 1234 Han (547 ACS patients and 687 controls) and 932 Uygur (471 ACS patients and 461 controls) were genotyped using SNPscan for three single-nucleotide polymorphisms (SNPs, rs6576776, rs954353, and rs3753794) of the human CCN1 gene. In the Uygur population, we found that the detected frequencies of the C allele (25.3% vs. 18.3%, P<0.001) and CC genotype (6.4% vs. 3.0%, P=0.001) of rs6576776 were significantly higher in the ACS patients than in the control participants. Differences in rs6576776 regarding the dominant model (CC+CG vs. GG, 44.2% vs. 55.8%, P=0.001) and the recessive model (CC vs. CG+GG, 6.4% vs. 93.6%, P=0.016) were observed between the two groups. The frequencies of the GGC and AGC haplotypes in those with ACS were significantly higher than those in the control group (all P<0.05) in the Uygur population. After adjusting for hypertension, diabetes, lipids and smoking, all of which indicate that the rs6576776 C allele is associated with higher risk of ACS (odds ratio (OR)=1.798, 95% confidence interval (CI), 1.218-2.656, P=0.003). In Han population, neither the distribution of genotypes and alleles of the CCN1 gene three SNPs nor the distribution of haplotypes constructed with the three SNPs exhibited a significant difference between the ACS patients and control participants.
Our study document that the CCN1 gene rs6576776 C allele is associated with higher susceptibility of ACS and that the frequencies of GGC and AGC haplotypes are higher among the Uygur ACS patients.
CCN1 在调节心血管疾病方面发挥着关键作用。然而，CCN1 基因变异是否与 ACS 的易感性有关尚不清楚。因此，本研究旨在探讨中国新疆地区汉族和维吾尔族人群中 CCN1 多态性与 ACS 之间的关系。
在这项病例对照研究中，1234 名汉族（547 名 ACS 患者和 687 名对照者）和 932 名维吾尔族（471 名 ACS 患者和 461 名对照者）使用 SNPscan 对人类 CCN1 基因的三个单核苷酸多态性（SNP，rs6576776、rs954353 和 rs3753794）进行了基因分型。在维吾尔族人群中，我们发现 rs6576776 的 C 等位基因（25.3%比 18.3%，P<0.001）和 CC 基因型（6.4%比 3.0%，P=0.001）的检出频率在 ACS 患者中明显高于对照组参与者。在 rs6576776 的显性模型（CC+CG 比 GG，44.2%比 55.8%，P=0.001）和隐性模型（CC 比 CG+GG，6.4%比 93.6%，P=0.016）中，两组间差异有统计学意义。在维吾尔族人群中，与对照组相比，携带 ACS 的个体的 GGC 和 AGC 单倍型频率明显更高（均 P<0.05）。在校正高血压、糖尿病、血脂和吸烟等因素后，表明 rs6576776 的 C 等位基因与 ACS 的发生风险增加相关（比值比（OR）=1.798，95%置信区间（CI）为 1.218-2.656，P=0.003）。在汉族人群中，CCN1 基因三个 SNP 的基因型和等位基因分布以及由这三个 SNP 构建的单倍型分布在 ACS 患者和对照组之间均无显著差异。
本研究表明 CCN1 基因 rs6576776 的 C 等位基因与 ACS 的易感性增加有关，维吾尔族 ACS 患者中 GGC 和 AGC 单倍型的频率更高。
