Huang Jian-Hua, Yin Rui-Xing, Li Wei-Jun, Huang Feng, Chen Wu-Xian, Cao Xiao-Li, Chen Yu-Ming
Department of Cardiology, Institute of Cardiovascular Diseases, The First Affiliated Hospital, Guangxi Medical University Nanning, Guangxi, China.
Department of Neurology, The First Affiliated Hospital, Guangxi Medical University Nanning, Guangxi, China.
Int J Clin Exp Pathol. 2017 Nov 1;10(11):11195-11205. eCollection 2017.
The tetratricopeptide repeat domain protein 39B gene () single nucleotide polymorphism (SNP) of rs581080 has been associated with serum high-density lipoprotein cholesterol (HDL-C) levels. However, little is known about such association in the Chinese populations. The present study was performed to assess the association between the rs581080 SNP and serum lipid levels and the risk of coronary artery disease (CAD) and ischemic stroke (IS) in the Guangxi Han population. Genotypes of the rs581080 SNP in 1741 unrelated subjects (CAD, 578; IS, 537; and healthy controls; 624) were determined by the Snapshot Technology. The genotypic and allelic frequencies of the rs581080 SNP were different between the CAD/IS patients and controls ( < 0.01 for all). The CG/GG genotypes and G allele were associated with an increased risk of CAD ( = 0.001 for CG/GG CC, = 0.003 for G C) and IS ( = 0.002 for CG/GG CC; = 0.004 for G C). The CG/GG genotypes in the healthy controls, but not in CAD or IS patients, were also associated with a decreased serum HDL-C concentration. These results suggest that the rs581080 SNP is associated with the risk of CAD and IS in our study population. It is likely to increase the risk of CAD and IS by reducing serum HDL-C levels.
四肽重复结构域蛋白39B基因（）的单核苷酸多态性（SNP）rs581080与血清高密度脂蛋白胆固醇（HDL-C）水平相关。然而，在中国人群中关于这种关联知之甚少。本研究旨在评估rs581080 SNP与广西汉族人群血脂水平、冠状动脉疾病（CAD）和缺血性卒中（IS）风险之间的关联。采用Snapshot技术测定了1741名无亲缘关系受试者（CAD患者578例、IS患者537例和健康对照624例）的rs581080 SNP基因型。CAD/IS患者与对照组之间rs581080 SNP的基因型和等位基因频率存在差异（均P<0.01）。CG/GG基因型和G等位基因与CAD风险增加相关（CG/GG对CC，P = 0.001；G对C，P = 0.003）以及IS风险增加相关（CG/GG对CC，P = 0.002；G对C，P = 0.004）。健康对照组中的CG/GG基因型与血清HDL-C浓度降低相关，而CAD或IS患者中则无此关联。这些结果表明，在我们的研究人群中，rs581080 SNP与CAD和IS风险相关。它可能通过降低血清HDL-C水平增加CAD和IS的风险。
