title: Genetic association of vitamin D receptor polymorphisms with autoimmune hepatitis and primary biliary cirrhosis in the Chinese.
abstract: BACKGROUND
  Autoimmune hepatitis (AIH) and primary biliary cirrhosis (PBC) are two autoimmune diseases of unknown etiology. Genetic factors appear to be involved in the pathogenesis of both diseases. Vitamin D has been shown to exert multiple immunomodulatory effects, which acts through its own receptor (VDR). Polymorphisms of VDR had been implicated in several autoimmune diseases. In the present study, the association between Chinese patients with AIH, PBC and the polymorphisms in exon 2, intron 8 and exon 9 of vitamin D receptor genes was studied.
  
  
  METHODS
  Four candidate gene loci were investigated in 49 patients with AIH, 58 patients with PBC, and 160 healthy controls. The VDR polymorphisms were assessed by FokI, BsmI, ApaI, and TaqI endonuclease digestion after specific polymerase chain reaction (PCR) amplification.
  
  
  RESULTS
  The result show a significant difference in FokI polymorphism between AIH patients and controls (chi(2) = 5.47, P = 0.019), and a significant association in BsmI polymorphisms between PBC patients and controls (chi(2) = 6.52, P = 0.01). Furthermore the distribution of FokI, BsmI, ApaI, and TaqI gene types differed between Chinese healthy controls and Caucasian healthy controls.
  
  
  CONCLUSIONS
  It is suggested that there is a genetic link of VDR polymorphisms to autoimmune liver diseases such as AIH and PBC in Chinese patients. Further studies are needed to elucidate the mechanisms by which VDR polymorphisms contribute to the lose of immune tolerance in autoimmune diseases.
authors.affiliation: Center of Clinical Immunology, Changzheng Hospital, Second Military Medical University, 4215 Feng Yang Road, Shanghai 200-003, China. flieying@hotmail.com
authors.forename: Lieying
authors.initials: L
authors.lastname: Fan
authors.forename: Xiaoqing
authors.initials: X
authors.lastname: Tu
authors.forename: Ye
authors.initials: Y
authors.lastname: Zhu
authors.forename: Lin
authors.initials: L
authors.lastname: Zhou
authors.forename: Thomas
authors.initials: T
authors.lastname: Pfeiffer
authors.forename: Ralph
authors.initials: R
authors.lastname: Feltens
authors.forename: Winfried
authors.initials: W
authors.lastname: Stoecker
authors.forename: Renqian
authors.initials: R
authors.lastname: Zhong
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D044466:Asian People; D001323:Autoantibodies / Q000097:blood; D016022:Case-Control Studies; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D019693:Hepatitis, Autoimmune / Q000097:blood / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D008105:Liver Cirrhosis, Biliary / Q000097:blood / Q000235:genetics* / Q000378:metabolism; D008297:Male; D008875:Middle Aged; D011110:Polymorphism, Genetic; D018167:Receptors, Calcitriol / Q000097:blood / Q000235:genetics* / Q000378:metabolism
chemical_list: D001323:Autoantibodies; D018167:Receptors, Calcitriol