title: [Relationship of vitamin D receptor gene Fok I polymorphism with systemic lupus erythematosus].
abstract: OBJECTIVE
  To investigate the relationship of vitamin D receptor (VDR) gene Fok I polymorphism with systemic lupus erythematosus (SLE) and to observe VDR mRNA levels in Chinese Han SLE patients.
  
  
  METHODS
  Genomic DNAs from 271 Chinese SLE patients and 130 healthy controls were determined for Fok I polymorphism by polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP), and VDR mRNA levels from 48 Chinese SLE patients and 38 healthy controls were detected by real-time polymerase chain reaction (RT-PCR).
  
  
  RESULTS
  Gene frequencies of allelic F and f were significantly different between the SLE patients and the controls (P=0.001).The relative risk of SLE in the presence of allelic gene F was 1.630 (95%CI=1.210-2.196, P=0.001). The frequency of homozygote FF in the SLE patients was higher than that in the controls (42.8% vs 25.4%, x(2);=11.417, P=0.001). Serositis, anti-dsDNA antibody, anti-Sm antibody and anti-histone antibody in the SLE patients carrying homozygote FF and heterozygote Ff were higher than those in the SLE patients carrying homozygote ff (P=0.001, P=0.001, P=0.047, P=0.001, respectively). The VDR mRNA was decreased in the SLE patients, with a delta;Ct value of 9.26 ± 2.37 (P=0.026), as compared with a delta;Ct value of 7.82 ± 3.05 in the controls (the bigger of the delta;Ct value, the lower of VDR mRNA expression). The delta;Ct value of VDR mRNA in the SLE patients carrying FF and Ff was bigger than that in the SLE patients carrying ff (10.54 ± 1.88 vs 7.15 ± 3.78, P=0.019).
  
  
  CONCLUSIONS
  VDR gene Fok I polymorphism is associated with SLE in the Han population of southern China. The SLE patients carrying F allel ± are more likely to have serositis and produce anti-dsDNA antibody, anti-Sm antibody and anti-Histone antibody, presumably as a result of down-regulation of VDR mRNA.
authors.affiliation: Institute of Rheumatology and Immunology, Affiliated Hospital of North Sichuan Medical College, Nanchong, China.
authors.forename: Xiong-yan
authors.initials: XY
authors.lastname: Luo
authors.forename: Li-jun
authors.initials: LJ
authors.lastname: Wu
authors.forename: Ming-hui
authors.initials: MH
authors.lastname: Yang
authors.forename: Ning-tao
authors.initials: NT
authors.lastname: Liu
authors.forename: Tao
authors.initials: T
authors.lastname: Liao
authors.forename: Zhong
authors.initials: Z
authors.lastname: Tang
authors.forename: Xiao-feng
authors.initials: XF
authors.lastname: Zeng
authors.forename: Guo-hua
authors.initials: GH
authors.lastname: Yuan
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000483:Alleles; D016022:Case-Control Studies; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D008180:Lupus Erythematosus, Systemic / Q000235:genetics* / Q000378:metabolism; D008297:Male; D008875:Middle Aged; D011110:Polymorphism, Genetic; D018167:Receptors, Calcitriol / Q000235:genetics* / Q000378:metabolism; D055815:Young Adult
chemical_list: D018167:Receptors, Calcitriol