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Abstract：
BACKGROUND: The present study aims to assess the association of PDE4D gene polymorphisms (SNP83 and SNP87) with Coronary Heart Disease (CHD) in a single Mendelian population of Delhi.
METHODS: A cross-sectional study was carried out wherein intravenous blood samples were collected from 100 cases and 100 age, sex and ethnicity matched controls along with their demographic, life style, and clinical profiles.
RESULTS: Genotypic frequencies of PDE4D gene variants 83 and 87 did not differ significantly between cases and controls. Odds ratio revealed a 1.4-fold increased risk with PDE4D 83 C allele; though not significant. Both the SNPs showed significant association with serum triglyceride (TG) (P ≤ 0.05). A significant linkage disequilibrium was observed between the SNPs. The haplotype with mutant alleles of the two SNPs showed fivefold increased risk (though not significant) and that with normal allele of SNP 83 and mutant allele of SNP 87 (T-T) was found to be significantly associated with the disease in the present population.
CONCLUSIONS: PDE4D gene variants 83 and 87 did not show any significant association with CHD. However, their interaction with TG and the haplotypic association found in the present population is indicative of the population-specific risk associated with CHD where majority of the individuals have high cholesterol and high Body Mass Index (BMI).
METHODS: A cross-sectional study was carried out wherein intravenous blood samples were collected from 100 cases and 100 age, sex and ethnicity matched controls along with their demographic, life style, and clinical profiles.
RESULTS: Genotypic frequencies of PDE4D gene variants 83 and 87 did not differ significantly between cases and controls. Odds ratio revealed a 1.4-fold increased risk with PDE4D 83 C allele; though not significant. Both the SNPs showed significant association with serum triglyceride (TG) (P ≤ 0.05). A significant linkage disequilibrium was observed between the SNPs. The haplotype with mutant alleles of the two SNPs showed fivefold increased risk (though not significant) and that with normal allele of SNP 83 and mutant allele of SNP 87 (T-T) was found to be significantly associated with the disease in the present population.
CONCLUSIONS: PDE4D gene variants 83 and 87 did not show any significant association with CHD. However, their interaction with TG and the haplotypic association found in the present population is indicative of the population-specific risk associated with CHD where majority of the individuals have high cholesterol and high Body Mass Index (BMI).
摘要：
背景：本研究旨在评估德里孟德尔人群中PDE4D基因多态性（SNP83和SNP87）与冠心病（CHD）的相关性。
方法：进行了一项横断面研究，其中从100例和100岁的患者中收集了静脉血液样本，性别和种族匹配的控制以及他们的人口统计学，生活方式,和临床资料。
结果：PDE4D基因变异83和87的基因型频率在病例和对照组之间没有显著差异。赔率比显示PDE4D83C等位基因的风险增加1.4倍；尽管不显着。两种SNP均与血清甘油三酯(TG)显著相关(P≤0.05)。在SNP之间观察到显著的连锁不平衡。具有两个SNP的突变等位基因的单倍型显示风险增加了五倍(尽管不显著),并且发现具有SNP83的正常等位基因和SNP87的突变等位基因(T-T)的单倍型与本群体中的疾病显著相关。
结论：PDE4D基因变异83和87与CHD无显著关联。然而,它们与TG的相互作用以及在本人群中发现的单倍型关联表明与CHD相关的人群特异性风险,其中大多数个体具有高胆固醇和高体重指数(BMI).
方法：进行了一项横断面研究，其中从100例和100岁的患者中收集了静脉血液样本，性别和种族匹配的控制以及他们的人口统计学，生活方式,和临床资料。
结果：PDE4D基因变异83和87的基因型频率在病例和对照组之间没有显著差异。赔率比显示PDE4D83C等位基因的风险增加1.4倍；尽管不显着。两种SNP均与血清甘油三酯(TG)显著相关(P≤0.05)。在SNP之间观察到显著的连锁不平衡。具有两个SNP的突变等位基因的单倍型显示风险增加了五倍(尽管不显著),并且发现具有SNP83的正常等位基因和SNP87的突变等位基因(T-T)的单倍型与本群体中的疾病显著相关。
结论：PDE4D基因变异83和87与CHD无显著关联。然而,它们与TG的相互作用以及在本人群中发现的单倍型关联表明与CHD相关的人群特异性风险,其中大多数个体具有高胆固醇和高体重指数(BMI).
