title: [Genetic association of vitamin D receptor polymorphisms with primary biliary cirrhosis and autoimmune liver diseases on Chinese].
abstract: OBJECTIVE
  To study the association between the polymorphisms of vitamin D receptor (VDR) gene and autoimmune liver diseases and (AIH) and primary biliary cirrhosis (PBC) in Chinese.
  
  
  METHODS
  PCR-RELP was used to investigate the polymorphisms in exon 2, and exon 7 to exon 9 of VDR among 49 AIH patients, 58 PBC patients, and 160 healthy controls, all Chinese. VDR polymorphisms were assessed by FokI, BsmI, ApaI, and TaqI endonucleases restriction fragment length polymorphism analysis after specific polymerase chain reaction (PCR) amplification.
  
  
  RESULTS
  The distribution of VDR gene polymorphism in Chinese was similar to those in Koreans and Japanese, and different from those in the Germans and Spaniards. The percentage of ff phenotype carriers was significantly higher in the AIH patients than in the healthy controls (34.7% vs. 48.1%, chi(2) = 5.47, P = 0.019) and the percentage of Ff phenotype carriers was lower in the AIH patients than in the healthy controls (34.7% vs. 48.1%, P = 0.057). The percentage of Bb phenotype carriers was significantly lower in the PBC patients than in the healthy controls (5.2% vs. 17.5%, P = 0.021) and. the percentage of bb phenotype carriers was significantly higher in the PBC patients than in the healthy controls (94.8% vs. 80.6%, chi(2) = 6.52, P = 0.01). We also detected a significant association of the BsmI polymorphisms in PBC patients in comparison with controls (P = 0.01). Furthermore we found the difference in the FokI, BsmI, ApaI, and TaqI genotype distribution between Chinese health controls and Caucasian health controls.
  
  
  CONCLUSIONS
  There is a significant association between FokI polymorphism and AIH and a significant association between the BsmI polymorphisms and PBC in Chinese.
authors.affiliation: Department of Experimental Diagnosis, Changzheng Hospital, Second Military Medical University, Shanghai 200003, China.
authors.forename: Lie-ying
authors.initials: LY
authors.lastname: Fan
authors.forename: Ren-qian
authors.initials: RQ
authors.lastname: Zhong
authors.forename: Xiao-qing
authors.initials: XQ
authors.lastname: Tu
authors.forename: Ye
authors.initials: Y
authors.lastname: Zhu
authors.forename: Chang-li
authors.initials: CL
authors.lastname: Gong
authors.forename: Lin
authors.initials: L
authors.lastname: Zhou
authors.forename: Zhi-xian
authors.initials: ZX
authors.lastname: Zhao
authors.forename: Ralph
authors.initials: R
authors.lastname: Feltens
authors.forename: Thomas
authors.initials: T
authors.lastname: Pfeiffer
mesh_terms: D000328:Adult; D000368:Aged; D001327:Autoimmune Diseases / Q000235:genetics*; D005260:Female; D005838:Genotype; D006801:Humans; D008105:Liver Cirrhosis, Biliary / Q000235:genetics*; D008107:Liver Diseases / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D011110:Polymorphism, Genetic; D018167:Receptors, Calcitriol / Q000235:genetics*
chemical_list: D018167:Receptors, Calcitriol