Association of VDR gene polymorphism with osteoporosis in patients with chronic obstructive pulmonary disease / 解放军医学杂志

ABSTRACT

Objective To investigate the relationship between single nucleotide polymorphism of vitamin D receptor (VDR) genes and osteoporosis in Chinese Northern Han patients with chronic obstructive pulmonary disease (COPD). Methods Patients with acute exacerbation COPD were enrolled and divided into osteoporosis and non-osteoporosis groups. Genomic DNA was extracted from peripheral blood of the subjects. UCSC genome browser and haploview 4.2 software were used to screen the tag single nucleotide polymorphism (tagSNPs) of VDR gene. The selected tagSNPs of VDR gene were genotyped by Sequenom MassARRAY SNP platform. Logistic regression was used to analyze the OR values and confidence intervals (CI) of each tagSNP in the codominant, dominant and recessive genetic models, and assess the relationship between single nucleotide polymorphisms in VDR gene and osteoporosis in COPD patients. Results A total of 379 COPD patients were enrolled. The group of osteoporosis and non-osteoporosis differed significantly in gender, age, alcohol assumption, peripheral platelet counts, serum phosphorus and serum creatinine levels (P<0.05). Finally, 17 tagSNPs of VDR gene (rs2238140 G/A, rs2228570 G/A, rs2408877 A/T, rs12721370 C/A, rs7299460 T/C, rs2239184 G/A, rs2239186 A/G, rs7136534 C/T, rs12721364 G/A, rs2853561 C/T, rs7965943 T/G, rs11168287 G/A, rs11608702 T/A, rs2239179 T/C, rs2189480 T/G, rs59707231 T/A, rs2853559 C/T) were filtered out for association analysis. Patients of rs2853561 carrying T/C and T/T genotypes had a lower risk of developing osteoporosis than those carrying C/C genotype in COPD patients (in dominant mode T/C+T/T vs. C/C, OR=0.34, 95%CI 0.18-0.63, P=0.0003539) with statistical significance. Conclusions The present study has revealed significant relationship between rs2853561 of VDR gene and osteoporosis in patients with COPD. Further studies are needed to discover the mechanism of VDR gene polymorphism in the pathogenesis of osteoporosis in COPD.