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Background  Hypercholesterolemia 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.    Methods  All 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.    Results  By 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.    Conclusions  Our 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.

diagnostic pathology

Genetic variants of numb gene were associated with elevated total cholesterol level and low density lipoprotein cholesterol level in Chinese subjects, in Xinjiang, China