Abstract：
UNASSIGNED: In the present study, we evaluated whether DEFB1 gene polymorphisms are associated with the presence of coronary artery disease (CAD).
UNASSIGNED: Two rs11362 A/G, and rs1800972 C/G gene polymorphisms of DEFB1 gene were genotyped by 5\'exonuclease TaqMan assays in 219 patients with CAD and 522 control individuals.
UNASSIGNED: The distribution of rs1800972 C/G polymorphisms was similar in patients with CAD and healthy controls. Nonetheless, under the co-dominant, dominant, recessive, and additive models, the AA genotype of the rs11362 A/G polymorphism was associated with the risk of developing CAD (OR = 1.89 pCCo-Dom = 0.041, OR = 1.46, pCDom = 0.034, OR = 1.69, pCRes = 0.039, and OR = 1.37, pCAdd = 0.012, respectively). In addition, the linkage disequilibrium showed that the \'AG\' haplotype was associated with an increased risk of developing CAD (OR = 1.23, p = 0.042). According, with the Genotype-Tissue Expression (GTEx) consortium data, the rs11362 AA genotype is associated with a low mRNA expression of the β-defensin-1 in tissues, such as artery aorta, artery coronary, heart left ventricle, and heart atrial appendage (p < 0.001).
UNASSIGNED: This study demonstrates that rs11362 A/G polymorphism of the DEFB1 gene is involved in the risk of developing CAD, and with a low RNA expression of the β-defensin-1 in heart tissue.
UNASSIGNED: Two rs11362 A/G, and rs1800972 C/G gene polymorphisms of DEFB1 gene were genotyped by 5\'exonuclease TaqMan assays in 219 patients with CAD and 522 control individuals.
UNASSIGNED: The distribution of rs1800972 C/G polymorphisms was similar in patients with CAD and healthy controls. Nonetheless, under the co-dominant, dominant, recessive, and additive models, the AA genotype of the rs11362 A/G polymorphism was associated with the risk of developing CAD (OR = 1.89 pCCo-Dom = 0.041, OR = 1.46, pCDom = 0.034, OR = 1.69, pCRes = 0.039, and OR = 1.37, pCAdd = 0.012, respectively). In addition, the linkage disequilibrium showed that the \'AG\' haplotype was associated with an increased risk of developing CAD (OR = 1.23, p = 0.042). According, with the Genotype-Tissue Expression (GTEx) consortium data, the rs11362 AA genotype is associated with a low mRNA expression of the β-defensin-1 in tissues, such as artery aorta, artery coronary, heart left ventricle, and heart atrial appendage (p < 0.001).
UNASSIGNED: This study demonstrates that rs11362 A/G polymorphism of the DEFB1 gene is involved in the risk of developing CAD, and with a low RNA expression of the β-defensin-1 in heart tissue.
摘要：
■在本研究中，我们评估了DEFB1基因多态性是否与冠状动脉疾病(CAD)相关.
■两个rs11362A/G，通过5'核酸外切酶TaqMan测定法对219名CAD患者和522名对照个体的DEFB1基因的rs1800972C/G基因多态性进行了基因分型。
■在CAD患者和健康对照中rs1800972C/G多态性的分布相似。尽管如此，在共同支配下，支配,隐性,和添加剂模型，rs11362A/G多态性的AA基因型与发生CAD的风险相关(OR=1.89pCCo-Dom=0.041,OR=1.46,pCDom=0.034,OR=1.69,pCRes=0.039,OR=1.37,pCDadd=0.012).此外,连锁不平衡显示\'AG\'单倍型与冠心病发病风险增加相关(OR=1.23,p=0.042).根据，利用基因型-组织表达(GTEx)联盟数据，rs11362AA基因型与组织中β-防御素-1的低mRNA表达有关，比如动脉主动脉,冠状动脉,心脏左心室,和心脏心耳（p<0.001）。
■这项研究表明，DEFB1基因的rs11362A/G多态性与发生CAD的风险有关，并且在心脏组织中β-防御素-1的RNA表达较低。
■两个rs11362A/G，通过5'核酸外切酶TaqMan测定法对219名CAD患者和522名对照个体的DEFB1基因的rs1800972C/G基因多态性进行了基因分型。
■在CAD患者和健康对照中rs1800972C/G多态性的分布相似。尽管如此，在共同支配下，支配,隐性,和添加剂模型，rs11362A/G多态性的AA基因型与发生CAD的风险相关(OR=1.89pCCo-Dom=0.041,OR=1.46,pCDom=0.034,OR=1.69,pCRes=0.039,OR=1.37,pCDadd=0.012).此外,连锁不平衡显示\'AG\'单倍型与冠心病发病风险增加相关(OR=1.23,p=0.042).根据，利用基因型-组织表达(GTEx)联盟数据，rs11362AA基因型与组织中β-防御素-1的低mRNA表达有关，比如动脉主动脉,冠状动脉,心脏左心室,和心脏心耳（p<0.001）。
■这项研究表明，DEFB1基因的rs11362A/G多态性与发生CAD的风险有关，并且在心脏组织中β-防御素-1的RNA表达较低。
