title: Genetic variations of the NPC1L1 gene associated with hepatitis C virus (HCV) infection and biochemical characteristics of HCV patients in China.
abstract: OBJECTIVE
  About 2% of the world population is infected with hepatitis C virus (HCV), a leading cause of hepatic cirrhosis and hepatocellular carcinoma. The Niemann-Pick C1-like 1 cholesterol absorption receptor (NPC1L1) was recently identified to be an important factor for HCV entry into host cells. Whether genetic variations of the NPC1L1 gene are associated with HCV infection is unknown.
  
  
  METHODS
  In this study, five single nucleotide polymorphisms (SNPs) of the NPC1L1 gene were analyzed in 261 HCV-infected individuals and 265 general controls from Yunnan Province, China.
  
  
  RESULTS
  No significant differences were identified in genotypes or alleles of the SNPs between the two groups. After constructing haplotypes based on the five SNPs, a significant difference between HCV-infected individuals and general controls was shown for two haplotypes. Haplotype GCCTT appeared to be a protective factor and haplotype GCCCT was a risk factor for HCV-infected individuals. Genotypes of four SNPs correlated with biochemical characteristics of HCV-infected persons. Genotypes of SNPs rs799444 and rs2070607 were correlated with total bilirubin. Genotype TT of rs917098 was a risk factor for the gamma-glutamyltransferase level. Furthermore, HCV-infected individuals carrying genotype GG of rs41279633 showed statistically higher gamma-glutamyltransferase levels than HCV-infected persons with GT and TT.
  
  
  CONCLUSIONS
  The results of this study identified the association between genetic susceptibility of the NPC1L1 gene and HCV infection, as well as biochemical characteristics of HCV-infected persons in Yunnan, China.
authors: Faculty of Life Science and Technology, Kunming University of Science and Technology, Kunming, Yunnan 650500, China; Molecular Medicine Center of Yunnan Province, Yunnan, China. Electronic address: zam1980@yeah.net.
authors: A-Mei
authors: AM
authors: Zhang
authors: Faculty of Life Science and Technology, Kunming University of Science and Technology, Kunming, Yunnan 650500, China.
authors: Cheng-Lin
authors: CL
authors: Zhang
authors: Faculty of Life Science and Technology, Kunming University of Science and Technology, Kunming, Yunnan 650500, China; Molecular Medicine Center of Yunnan Province, Yunnan, China.
authors: Yuzhu
authors: Y
authors: Song
authors: Department of Microbiology, Shanghai Key Laboratory of Medical Biodefense, Second Military Medical University, Shanghai, China.
authors: Ping
authors: P
authors: Zhao
authors: Faculty of Life Science and Technology, Kunming University of Science and Technology, Kunming, Yunnan 650500, China; Molecular Medicine Center of Yunnan Province, Yunnan, China.
authors: Yue
authors: Y
authors: Feng
authors: Faculty of Life Science and Technology, Kunming University of Science and Technology, Kunming, Yunnan 650500, China; Molecular Medicine Center of Yunnan Province, Yunnan, China.
authors: Binghui
authors: B
authors: Wang
authors: Department of Clinical Laboratory, The First People's Hospital of Yunnan Province, Yunnan, China.
authors: Zheng
authors: Z
authors: Li
authors: Faculty of Life Science and Technology, Kunming University of Science and Technology, Kunming, Yunnan 650500, China; Molecular Medicine Center of Yunnan Province, Yunnan, China.
authors: Li
authors: L
authors: Liu
authors: Faculty of Life Science and Technology, Kunming University of Science and Technology, Kunming, Yunnan 650500, China; Molecular Medicine Center of Yunnan Province, Yunnan, China. Electronic address: oliverxia2000@aliyun.com.
authors: Xueshan
authors: X
authors: Xia
mesh_terms: D000328:Adult; D000483:Alleles; D006528:Carcinoma, Hepatocellular / Q000821:virology*; D002681:China / Q000453:epidemiology; D005260:Female; D020022:Genetic Predisposition to Disease; D014644:Genetic Variation; D005838:Genotype; D006239:Haplotypes; D016174:Hepacivirus / Q000235:genetics*; D006526:Hepatitis C / Q000150:complications / Q000453:epidemiology / Q000821:virology*; D006801:Humans; D015810:Linkage Disequilibrium; D008103:Liver Cirrhosis / Q000821:virology*; D008113:Liver Neoplasms / Q000821:virology*; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D026901:Membrane Transport Proteins; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D012307:Risk Factors
chemical_list: D008565:Membrane Proteins; D026901:Membrane Transport Proteins; C410800:NPC1L1 protein, human
keywords: Biochemical characteristics; HCV infection; NPC1L1 gene; SNPs