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CCDC92 基因单核苷酸多态性 rs11057401 与冠心病 (CHD) 风险的关联。

Association between single nucleotide polymorphism rs11057401 of CCDC92 gene and the risk of coronary heart disease (CHD).

机构信息

Intensive care unit, the Second Hospital of Nanjing, Southeast University, Nanjing, Jiangsu, 210008, China.

Department of Endocrinology, the Affiliated Hospital of Xuzhou Medical University, Xuzhou, Jiangsu, 221003, China.

出版信息

Lipids Health Dis. 2018 Feb 13;17(1):28. doi: 10.1186/s12944-018-0672-1.

DOI:10.1186/s12944-018-0672-1
PMID:29439709
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5812207/
Abstract

BACKGROUND

Given that the CCDC92 (coiled-coil domain containing 92) was important in insulin resistance, we sought to investigate whether the CCDC92 rs825476 SNP is associated with the risk of CHD in Chinese Han population.

METHODS

Rs11057401 was genotyped for 817 patients with CHD and 724 age- and sex-matched controls using PCR-based Invader assay with the probe sets designed and synthesized by third wave.

RESULTS

Patients were found to have a significantly higher frequency of AA than the controls (23.5% vs. 14.7%, OR = 1.60, p = 0.000), and the frequency of allele A was found to be remarkably higher in the patients than the controls (48.1% vs. 40.3%, OR = 1.19, p = 0.000). Multivariate logistic analysis showed that the incidence of CHD was positively correlated with hyperlipidemia, T2D and rs11057401 AA/AT genotypes. The FPG, TC, and ApoA1 levels in the CHD patients were different among the AA, AT and TT genotypes (P < 0.05), the A allele carriers had higher FPG, TC and lower ApoA1 levels than the A allele non-carriers (P < 0.05).

CONCLUSION

The genotypic and allelic frequencies of the rs11057401 SNP were significantly different between the patients with CHD and controls. Subjects with AA genotype or A allele were associated with an increased risk of CHD. The AA/AT genotypes were also associated with increased serum FPG, TC and decreased ApoA1 in CHD.

摘要

背景

由于 CCDC92(卷曲螺旋结构域包含 92 个氨基酸)在胰岛素抵抗中很重要,我们试图研究 CCDC92 rs825476 单核苷酸多态性是否与中国汉族人群冠心病的风险相关。

方法

采用基于 PCR 的 Invader 检测方法,用第三波公司设计和合成的探针组,对 817 例冠心病患者和 724 例年龄和性别匹配的对照进行 rs11057401 基因分型。

结果

与对照组相比,患者 AA 基因型的频率明显升高(23.5% vs. 14.7%,OR=1.60,p=0.000),且患者 A 等位基因的频率明显高于对照组(48.1% vs. 40.3%,OR=1.19,p=0.000)。多因素 logistic 分析显示,CHD 的发病与高血脂、T2D 和 rs11057401 AA/AT 基因型呈正相关。CHD 患者的 FPG、TC 和 ApoA1 水平在 AA、AT 和 TT 基因型之间存在差异(P<0.05),A 等位基因携带者的 FPG、TC 水平较高,ApoA1 水平较低(P<0.05)。

结论

rs11057401 单核苷酸多态性的基因型和等位基因频率在冠心病患者和对照组之间存在显著差异。AA 基因型或 A 等位基因携带者患冠心病的风险增加。AA/AT 基因型也与冠心病患者血清 FPG、TC 升高和 ApoA1 降低有关。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/973b/5812207/098915dd0253/12944_2018_672_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/973b/5812207/098915dd0253/12944_2018_672_Fig1_HTML.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/973b/5812207/098915dd0253/12944_2018_672_Fig1_HTML.jpg

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