title: [Relationship between genetic variation of furin gene and hypercholesterolemia and hyper-low-density lipoprotein cholesterolemia in Kazakh general population].
abstract: OBJECTIVE
  To investigate the relationship between the genetic variation of Furin gene and the hypercholesterolemia and hyper-low-density lipoprotein cholesterolemia in Kazakh general population.
  
  
  METHODS
  Based on a cross-sectional epidemiological study in a Kazakh general population, a case-control study including 878 subjects was conducted. All the sequence variant-located promoters and exon regions of Furin gene were identified by the direct sequencing of PCR products in 48 randomly selected hypercholesterolemic individuals (24 males and 24 females). After having genotyped the representative polymorphisms in 878 subjects by TaqMan PCR, we investigated the relationship between genetic variation of Furin and hypercholesterolemia/hyper-low-density lipoprotein cholesterolemia in these subjects.
  
  
  RESULTS
  Twelve genetic variations in Furin gene were identified by sequencing 48 hypercholesterolemic individuals and 4 common single nucleotide polymorphisms (rs6226, rs6227, rs2071410, and rs4932178)were selected as the representatives for genotyping in these subjects. The rs6226, rs6227, rs2071410, and rs4932178 polymorphisms were successfully genotyped. The distribution of the genotypes, alleles, and haplotypes of rs6226, rs6227, rs2071410, and rs4932178 polymorphisms did not differ significantly between the hypercholesterolemia group and the control groups or between the hyper-low-density lipoprotein cholesterolemia group and the control groups (all P>0.05). The cholesterol and low-density lipoprotein cholesterol levels did not differ significantly among individuals with different genotypes (all P>0.05).
  
  
  CONCLUSIONS
  The genetic variation of Furin may not be associated with hypercholesterolemia or hyper-low-density lipoprotein cholesterolemia in Kazakh general population.
authors.affiliation: Postdoctoral Research Station,Institute of Basic Medicine Sciences,CAMS and PUMC,Beijing 100005,China;Postdoctoral Research Station,the People's Hospital of Xinjiang Uygur Autonomous Region,Urumqi 830001,China.
authors.forename: Hong-mei
authors.initials: HM
authors.lastname: Wang
authors.affiliation: Hypertension Center,the People's Hospital of Xinjiang Uygur Autonomous Region,Urumqi 830001,China.
authors.forename: Nan-fang
authors.initials: NF
authors.lastname: Li
authors.affiliation: Hypertension Center,the People's Hospital of Xinjiang Uygur Autonomous Region,Urumqi 830001,China.
authors.forename: Jing
authors.initials: J
authors.lastname: Hong
authors.affiliation: Hypertension Center,the People's Hospital of Xinjiang Uygur Autonomous Region,Urumqi 830001,China.
authors.forename: Wen-li
authors.initials: WL
authors.lastname: Luo
authors.affiliation: Hypertension Center,the People's Hospital of Xinjiang Uygur Autonomous Region,Urumqi 830001,China.
authors.forename: Zhi-tao
authors.initials: ZT
authors.lastname: Yan
authors.affiliation: Hypertension Center,the People's Hospital of Xinjiang Uygur Autonomous Region,Urumqi 830001,China.
authors.forename: Xin-ling
authors.initials: XL
authors.lastname: Wang
authors.affiliation: Hypertension Center,the People's Hospital of Xinjiang Uygur Autonomous Region,Urumqi 830001,China.
authors.forename: Yi
authors.initials: Y
authors.lastname: Zhu
authors.affiliation: State Key Laboratory of Medical Molecular Biology,Institute of Basic Medical Sciences,CAMS and PUMC,Beijing 100005,China.
authors.forename: Yan
authors.initials: Y
authors.lastname: Shen
mesh_terms: D000328:Adult; D044466:Asian People / Q000235:genetics; D016022:Case-Control Studies; D003430:Cross-Sectional Studies; D005260:Female; D045683:Furin / Q000235:genetics*; D006801:Humans; D006937:Hypercholesterolemia / Q000208:ethnology / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D011110:Polymorphism, Genetic
chemical_list: D045683:Furin