title: The association of cholesterol absorption gene Numb polymorphism with Coronary Artery Disease among Han Chinese and Uighur Chinese in Xinjiang, China.
abstract: BACKGROUND
  Hypercholesterolemia is a major risk factor for coronary artery disease (CAD). As Numb is an important regulating factor for intestinal cholesterol absorption and plasma cholesterol level, the aim of the present study is to assess the association between human Numb gene polymorphism and CAD among Han and Uighur Chinese.
  
  
  METHODS
  We have conducted two independent case-control studies in Han Chinese (384 CAD patients and 433 controls) and Uighur Chinese (506 CAD patients and 351 controls) subjects. All subjects were genotyped for four kinds of SNPs (rs12435797, rs2108552, rs1019075 and rs17781919) and SNP is used as a genetic marker for human Numb gene. Genotyping was undertaken using TaqMan SNP genotyping assay, and the subjects' ethnicity and gender were considered in the analysis.
  
  
  RESULTS
  We found that rs2108552 was associated with CAD in the dominant model (CC vs CG + GG) for the total Han Chinese population (n = 200) and Han Chinese males (n = 115) (P = 0.004 and P = 0.001, respectively). The difference remained statistically significant after multivariate adjustment (total: OR = 1.687, P = 0.004; male: OR = 1.498, P = 0.006). Further, for the total (n = 817) and male (n = 490) Han Chinese, the frequency of the haplotype (T-C-T-C) was significantly higher in the CAD patients than in the controls (P = 0.004 and P = 0.002), and the frequency of the haplotype (G-G-T-C) was significantly lower in the CAD patients than in the control subjects (P = 0.013, P = 0.007). In addition, for the total (n = 857) and male (n = 582) Uighur Chinese, we observed that rs12435797 was associated with CAD in an additive and recessive model (P = 0.021 and P = 0.009; P = 0.048 and P = 0.034). However, the difference did not remain statistically significant after multivariate adjustment. The overall distribution of rs2108552, rs1019075 and rs17781919 genotypes, alleles and the frequency of the haplotype established by four SNPs showed no significant difference between CAD patients and control subjects in the total, male and female Uighur Chinese.
  
  
  CONCLUSIONS
  The results of this study indicate that CC genotype of rs2108552 and T-C-T-C haplotypes in Numb gene is a possible risk genetic marker and G allele and G-G-T-C haplotypes is a possible protective genetic marker for CAD in male Han Chinese.
authors.affiliation: Department of Cardiology, The First Affiliated Hospital of Xinjiang Medical University, Urumqi, 830001, People's Republic of China. mayira1986@hotmail.com.|Xinjiang Key Laboratory of Cardiovascular Disease Research, Urumqi, 830001, People's Republic of China. mayira1986@hotmail.com.|Present address: The First Affiliated Hospital of Xinjiang Medical University, Li Yu Shan South Road 137, Urumqi, 830001, People's Republic of China. mayira1986@hotmail.com.|Present address: Xinjiang Key Laboratory of Cardiovascular Disease Research, Li Yu Shan South Road 137, Urumqi, 830001, People's Republic of China. mayira1986@hotmail.com.
authors.forename: Mayila
authors.initials: M
authors.lastname: Abudoukelimu
authors.affiliation: Department of Cardiology, The First Affiliated Hospital of Xinjiang Medical University, Urumqi, 830001, People's Republic of China. 359582435@qq.com.|Xinjiang Key Laboratory of Cardiovascular Disease Research, Urumqi, 830001, People's Republic of China. 359582435@qq.com.|Present address: The First Affiliated Hospital of Xinjiang Medical University, Li Yu Shan South Road 137, Urumqi, 830001, People's Republic of China. 359582435@qq.com.|Present address: Xinjiang Key Laboratory of Cardiovascular Disease Research, Li Yu Shan South Road 137, Urumqi, 830001, People's Republic of China. 359582435@qq.com.
authors.forename: Zhen-Yan
authors.initials: ZY
authors.lastname: Fu
authors.affiliation: Department of Cardiology, The First Affiliated Hospital of Xinjiang Medical University, Urumqi, 830001, People's Republic of China. ailifeire1983@sina.com.|Xinjiang Key Laboratory of Cardiovascular Disease Research, Urumqi, 830001, People's Republic of China. ailifeire1983@sina.com.|Present address: The First Affiliated Hospital of Xinjiang Medical University, Li Yu Shan South Road 137, Urumqi, 830001, People's Republic of China. ailifeire1983@sina.com.|Present address: Xinjiang Key Laboratory of Cardiovascular Disease Research, Li Yu Shan South Road 137, Urumqi, 830001, People's Republic of China. ailifeire1983@sina.com.
authors.forename: Ailifeire
authors.initials: A
authors.lastname: Maimaiti
authors.affiliation: Department of Cardiology, The First Affiliated Hospital of Xinjiang Medical University, Urumqi, 830001, People's Republic of China. myt_xj@sina.com.|Xinjiang Key Laboratory of Cardiovascular Disease Research, Urumqi, 830001, People's Republic of China. myt_xj@sina.com.|Present address: The First Affiliated Hospital of Xinjiang Medical University, Li Yu Shan South Road 137, Urumqi, 830001, People's Republic of China. myt_xj@sina.com.|Present address: Xinjiang Key Laboratory of Cardiovascular Disease Research, Li Yu Shan South Road 137, Urumqi, 830001, People's Republic of China. myt_xj@sina.com.
authors.forename: Yi-Tong
authors.initials: YT
authors.lastname: Ma
authors.affiliation: The First Affiliated Hospital of Xinjiang Medical University, Urumqi, 830001, People's Republic of China. minawaer2010@hotmail.com.|Present address: The First Affiliated Hospital of Xinjiang Medical University, Li Yu Shan South Road 137, Urumqi, 830001, People's Republic of China. minawaer2010@hotmail.com.
authors.forename: Minawaer
authors.initials: M
authors.lastname: Abudu
authors.affiliation: Department of Cardiology, The First Affiliated Hospital of Xinjiang Medical University, Urumqi, 830001, People's Republic of China. zhuqing415@qq.com.|Xinjiang Key Laboratory of Cardiovascular Disease Research, Urumqi, 830001, People's Republic of China. zhuqing415@qq.com.|Present address: The First Affiliated Hospital of Xinjiang Medical University, Li Yu Shan South Road 137, Urumqi, 830001, People's Republic of China. zhuqing415@qq.com.|Present address: Xinjiang Key Laboratory of Cardiovascular Disease Research, Li Yu Shan South Road 137, Urumqi, 830001, People's Republic of China. zhuqing415@qq.com.
authors.forename: Qing
authors.initials: Q
authors.lastname: Zhu
authors.affiliation: Department of Cardiology, The First Affiliated Hospital of Xinjiang Medical University, Urumqi, 830001, People's Republic of China. dilareadi510@qq.com.|Xinjiang Key Laboratory of Cardiovascular Disease Research, Urumqi, 830001, People's Republic of China. dilareadi510@qq.com.|Present address: The First Affiliated Hospital of Xinjiang Medical University, Li Yu Shan South Road 137, Urumqi, 830001, People's Republic of China. dilareadi510@qq.com.|Present address: Xinjiang Key Laboratory of Cardiovascular Disease Research, Li Yu Shan South Road 137, Urumqi, 830001, People's Republic of China. dilareadi510@qq.com.
authors.forename: Dilare
authors.initials: D
authors.lastname: Adi
authors.affiliation: Department of Cardiology, The First Affiliated Hospital of Xinjiang Medical University, Urumqi, 830001, People's Republic of China. 45292611vip@sina.com.|Xinjiang Key Laboratory of Cardiovascular Disease Research, Urumqi, 830001, People's Republic of China. 45292611vip@sina.com.|Present address: The First Affiliated Hospital of Xinjiang Medical University, Li Yu Shan South Road 137, Urumqi, 830001, People's Republic of China. 45292611vip@sina.com.|Present address: Xinjiang Key Laboratory of Cardiovascular Disease Research, Li Yu Shan South Road 137, Urumqi, 830001, People's Republic of China. 45292611vip@sina.com.
authors.forename: Yi-Ning
authors.initials: YN
authors.lastname: Yang
authors.affiliation: Department of Cardiology, The First Affiliated Hospital of Xinjiang Medical University, Urumqi, 830001, People's Republic of China. 209116750@qq.com.|Xinjiang Key Laboratory of Cardiovascular Disease Research, Urumqi, 830001, People's Republic of China. 209116750@qq.com.|Present address: The First Affiliated Hospital of Xinjiang Medical University, Li Yu Shan South Road 137, Urumqi, 830001, People's Republic of China. 209116750@qq.com.|Present address: Xinjiang Key Laboratory of Cardiovascular Disease Research, Li Yu Shan South Road 137, Urumqi, 830001, People's Republic of China. 209116750@qq.com.
authors.forename: Xiao-Mei
authors.initials: XM
authors.lastname: Li
authors.affiliation: Department of Cardiology, The First Affiliated Hospital of Xinjiang Medical University, Urumqi, 830001, People's Republic of China. xiexiang990@qq.com.|Xinjiang Key Laboratory of Cardiovascular Disease Research, Urumqi, 830001, People's Republic of China. xiexiang990@qq.com.|Present address: The First Affiliated Hospital of Xinjiang Medical University, Li Yu Shan South Road 137, Urumqi, 830001, People's Republic of China. xiexiang990@qq.com.|Present address: Xinjiang Key Laboratory of Cardiovascular Disease Research, Li Yu Shan South Road 137, Urumqi, 830001, People's Republic of China. xiexiang990@qq.com.
authors.forename: Xiang
authors.initials: X
authors.lastname: Xie
authors.affiliation: Xinjiang Key Laboratory of Cardiovascular Disease Research, Urumqi, 830001, People's Republic of China. 817720324@qq.com.|Present address: Xinjiang Key Laboratory of Cardiovascular Disease Research, Li Yu Shan South Road 137, Urumqi, 830001, People's Republic of China. 817720324@qq.com.
authors.forename: Fen
authors.initials: F
authors.lastname: Liu
authors.affiliation: Xinjiang Key Laboratory of Cardiovascular Disease Research, Urumqi, 830001, People's Republic of China. 289125622@qq.com.|Present address: Xinjiang Key Laboratory of Cardiovascular Disease Research, Li Yu Shan South Road 137, Urumqi, 830001, People's Republic of China. 289125622@qq.com.
authors.forename: Bang-Dang
authors.initials: BD
authors.lastname: Chen
mesh_terms: D000328:Adult; D000368:Aged; D000483:Alleles; D001692:Biological Transport; D016022:Case-Control Studies; D002681:China; D002784:Cholesterol / Q000378:metabolism; D003324:Coronary Artery Disease / Q000208:ethnology / Q000209:etiology / Q000235:genetics* / Q000378:metabolism; D005006:Ethnicity; D005260:Female; D015870:Gene Expression; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D006239:Haplotypes; D006801:Humans; D006937:Hypercholesterolemia / Q000150:complications / Q000208:ethnology / Q000235:genetics* / Q000378:metabolism; D008297:Male; D008565:Membrane Proteins / Q000235:genetics* / Q000378:metabolism; D008875:Middle Aged; D008957:Models, Genetic; D009419:Nerve Tissue Proteins / Q000235:genetics* / Q000378:metabolism; D020641:Polymorphism, Single Nucleotide; D012307:Risk Factors
chemical_list: D008565:Membrane Proteins; D009419:Nerve Tissue Proteins; C113026:NUMB protein, human; D002784:Cholesterol