Abstract
BackgroundHypercholesterolemia is one of the most common risk factors for Coronary Artery Disease (CAD), which is the leading cause of death worldwide. As Numb is an important regulating factor regarding intestinal cholesterol absorption and plasma cholesterol level, the aim of the present study is to investigate the relationship between human Numb gene polymorphism and cholesterol level in Chinese subjects.MethodsAll participants came from the First Affiliated Hospital of Xinjiang Medical University (Male: 1052 and Female: 596), and four tagging SNPs (rs2108552, rs12435797, rs1019075 and rs17781919) of Numb gene were genotyped by using TaqMan® assays and analyzed in an ABI 7900HT Fast Real-Time PCR System. Further, general liner model was applied for assessing the relationship between cholesterol level and genotypes.ResultsBy analyzing a dominant model, recessive model and an additive model, we have found that SNP rs2108552 was associated with total cholesterol (TC) and low density lipoprotein-cholesterol level (LDL-C) (P = 0.000 and P = 0.007; P =0.042 and P =0.009; P = 0.006 and P = 0.030). C allele of SNP rs17781919 had significantly lower plasma TC level (3.46 ± 0.74 mmol/L vs 4.27 ± 1.1 mmol/L) and LDL-C level (0.98 ± 0.55 mmol/L vs 2.64 ± 0.93 mmol/L) when compared with T allele. Additionally, SNP rs12435797 was associated with TC level and SNP rs1019075 was associated with LDL-C level by analyses of a dominant model, recessive model and an additive model (P = 0.000, P = 0.005 and P = 0.004; P = 0.016, P = 0.008 and P = 0.033). Further, the association of rs2108552, rs12435797, rs1019075 and rs17781919 with aforementioned different kinds of cholesterol levels remained statistically significant after multivariate adjustment of ethnicity, gender, age, smoking and obesity.ConclusionsOur results indicated that both rs2108552 and rs17781919 in the Numb gene were associated with total cholesterol level and density lipoprotein-cholesterol level in Chinese subjects.
Highlights
Hypercholesterolemia is one of the most common risk factors for Coronary Artery Disease (CAD), which is the leading cause of death worldwide
Convincing data shows that 1 % decrease in low density lipoprotein-cholesterol (LDL-C) concentration reduces the risk of CAD for approximately 1 % [10], and 1 % increase in high density lipoprotein-cholesterol (HDL-C) concentration reduces the risk of CAD for approximately 2 % [11]
There were no significant differences between males and females on plasma concentration of uric acid, glucose, total cholesterol (TC),TG, LDL-C and HDL-C or prevalence of obesity (All P > 0.05)
Summary
Hypercholesterolemia is one of the most common risk factors for Coronary Artery Disease (CAD), which is the leading cause of death worldwide. Regarding Coronary artery disease, strong evidence indicates that the risk increasement of CAD [4,5,6,7] is closely related to the rise of plasma cholesterol level. Jian Wei et al [21] has confirmed that there does exist a remarkable correlation between Numb polymorphism G595D (rs17781919),-a nonsynonymous variant in the coding region of Numb gene- and low concentration of LDL-C among humans. They demonstrated that rs17781919 influences Numb activity of driving NPC1L1 internalization and decreases cholesterol absorption and leading to low plasma cholesterol level
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