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磷酸二酯酶 4D 基因 SNP83 与中国南方汉族人群颈动脉粥样硬化的相关性:病例对照研究。

Associations between SNP83 of phosphodiesterase 4D gene and carotid atherosclerosis in a southern Chinese Han population: a case-control study.

机构信息

Department of Neurology, First Affiliated Hospital of Guangxi Medical University, Nanning, 530021, China.

Department of Neurology, First Affiliated Hospital, Sun Yat-Sen University, Guangzhou, 510080, China.

出版信息

Mamm Genome. 2021 Apr;32(2):115-122. doi: 10.1007/s00335-021-09857-5. Epub 2021 Mar 23.

DOI:10.1007/s00335-021-09857-5
PMID:33755782
Abstract

Atherosclerosis was an important pathophysiological basis of atherothrombotic stroke, and phosphodiesterase 4D (PDE4D) polymorphism (SNP83/rs966221) was reported to be associated with the susceptibility to atherothrombotic stroke. Aim of the present study was to explore the potential association between SNP83 and carotid atherosclerosis (CAS). 204 southern Chinese Han participants were divided into two groups according to the carotid intima-media thickness (IMT) of the carotid artery: CAS group (carotid IMT ≥ 1.0 mm) and non-CAS group (carotid IMT < 1.0 mm). Carotid IMT was measured by color Doppler ultrasound. The PDE4D SNP83 polymorphism was determined by SNaPshot technique. Our study found that SNP83 was associated significantly with CAS susceptibility under the dominant, overdominant and codominant models. After adjusting for age, gender, low-density lipoprotein cholesterol, Hemoglobin A1c, cigarette smoking, hypertension history, and diabetes mellitus history, the association still remained significant (dominant model: crude OR = 2.373, 95% CI: 1.268-4.442, P = 0.007; adjusted OR = 3.129, 95% CI: 1.104-8.866, P = 0.032; overdominant model: crude OR = 1.968, 95% CI: 1.043-3.714, P = 0.037; adjusted OR = 2.854, 95% CI: 1.005-8.108, P = 0.049; codominant: crude OR = 2.102, 95% CI: 1.110-3.979, P = 0.023; adjusted OR = 2.984, 95% CI: 1.047-8.502, P = 0.041). Carotid IMT of carriers with CT + CC genotypes was higher than carriers with TT genotype (P = 0.016). Our results indicated that the SNP83/rs966221 located on PDE4D gene was significantly associated between CAS susceptibility and carotid IMT independently of conventional risk factors in a southern Chinese Han population.

摘要

动脉粥样硬化是动脉血栓性卒中的重要病理生理学基础,磷酸二酯酶 4D(PDE4D)多态性(SNP83/rs966221)与动脉血栓性卒中的易感性相关。本研究旨在探讨 SNP83 与颈动脉粥样硬化(CAS)之间的潜在关联。根据颈动脉内-中膜厚度(IMT)将 204 例中国南方汉族参与者分为 CAS 组(颈动脉 IMT≥1.0mm)和非-CAS 组(颈动脉 IMT<1.0mm)。采用彩色多普勒超声测量颈动脉 IMT。采用 SNaPshot 技术检测 PDE4D SNP83 多态性。我们的研究发现,在显性、超显性和共显性模型下,SNP83 与 CAS 易感性显著相关。在调整年龄、性别、低密度脂蛋白胆固醇、糖化血红蛋白、吸烟、高血压病史和糖尿病病史后,这种关联仍然显著(显性模型:粗 OR=2.373,95%CI:1.268-4.442,P=0.007;调整 OR=3.129,95%CI:1.104-8.866,P=0.032;超显性模型:粗 OR=1.968,95%CI:1.043-3.714,P=0.037;调整 OR=2.854,95%CI:1.005-8.108,P=0.049;共显性:粗 OR=2.102,95%CI:1.110-3.979,P=0.023;调整 OR=2.984,95%CI:1.047-8.502,P=0.041)。携带 CT+CC 基因型的个体颈动脉 IMT 高于 TT 基因型(P=0.016)。我们的结果表明,在南方汉族人群中,位于 PDE4D 基因上的 SNP83/rs966221 与 CAS 易感性和颈动脉 IMT 之间存在显著关联,且独立于传统危险因素。

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