Association of vitamin D receptor gene BsmI polymorphisms in Chinese patients with systemic lupus erythematosus

Abstract

The purpose of this study was to evaluate whether vitamin D receptor (VDR) genes BsmI polymorphisms were markers for susceptibility to or severity of systemic lupus erythematosus (SLE) in Chinese patients in Taiwan. The study included 47 Chinese patients with SLE. In addition, 90 unrelated, healthy individuals living in central Taiwan served as control subjects. Each polymorphism was detected as a result of polymerase chain reaction (PCR)-based restriction analysis. A PCR product length was determined to be 580bp (BB) whereas two fragments of 405 and 175bp were determined to be excisable lengths (bb) by BsmI endonuclease. The relationship between Bsm polymorphisms and clinical manifestations of SLE was evaluated. We found that BB was significantly more common and bb less common in SLE than in control group (chi2 = 54.2, P < 0.0001). In addition, the frequency of B allele was also significantly more common in patients with SLE than in the healthy control subjects (chi2 = 38.7, P < 0.0001), giving an odds ratio of 7.14 (95% confidence interval 3.53-14.4). In the SLE patients, we did not detect any associations of VDR genotype with the clinical, laboratory profiles, or lupus nephritis (chi2 = 2.34, P = 0.3). This study indicated an increased distribution of VDR BB genotype and B allelic frequencies in the Chinese SLE patients in Taiwan. However, there were no associations between the frequency of VDR allelic variations and clinical manifestations, laboratory profiles, or lupus nephritis.

Serum vitamin D and vitamin D receptor gene polymorphism in Moroccan patients with systemic lupus erythematosus

“…18 A Taiwanese study also found an increased distribution of the VDR AA genotype in SLE but indicated no association between the frequency of VDR allelic variations and clinical manifestations or laboratory profiles. 19 In present study we did not find statistically significant differences in the frequency of BsmI genotypes and alleles in SLE patients and healthy controls. Present results are consistent with the findings of previous published studies, who reported no association of the BsmI polymorphism with the development of SLE in the Brazilian, Iranian, Thai, and European populations.…”

Genetics of primary progressive multiple sclerosis

“…CREE 2002), systemic lupus erythematosus (Huang et al, 2002), type 1 diabetes (Skrabic et al, 2003), and MS (Fukazawa et al, 1999a). The VDR gene is located at 12q.12-14, a region of interest identified in genome-wide association screens in Sardinian and Spanish datasets (Coraddu et al, 2003;Goertsches et al, 2003).…”

Lack of association of vitamin D receptor gene BsmI polymorphisms in patients with systemic lupus erythematosus

“…It inhibits the accumulation of mRNA for interleukin (IL) 2, interferon (IFN) and granulocyte-macrophage colony-stimulating factor (GM-CSF) and also negatively regulates IL 12 production by downregulation of NF-KB activation [3,4]. An association between VDR gene polymorphism and SLE in Japanese and Chinese patients has been reported with diverse results [5][6][7].…”