ABSTRACT
Objective To investigate the genetic predisposing factor of chronic obstructive pulmonary disease (COPD) by studying the distribution of vitamin D receptor (VDR) gene polymorphisms in patients with COPD in Changsha.Methods Totally 120 COPD patients and 120 volunteers were enrolled in the study.Polymorphisms of VDR genes including Apa I and Bsm I were detected with polymerase chain reaction-restriction fragments length polymorphism (RFLP).Results There existed statistical difference in polymorphism of Apa I gene and frequency of distribution on its allele between two groups (P ＜ 0.05),while there is no significant difference on Bsm I gene between the two groups (P ＞ 0.05).Conclusions COPD is associated with the polymorphism of VDR-Apa I.There may be no relationship on VDR-Bsm I between two groups.
ABSTRACT
Objective To explore frequency distribution of vitamin D receptor (VDR) genotype and the correlations between polymorphism of VDR gene Bsm Ⅰ sites and bone mineral density in the patients undergoing maintenance peritoneal dialysis.Methods A case-control study was conducted based on 82 patients with maintenance peritoneal dialysis and 80 healthy people.The frequency distribution of VDR genotype in two groups was detected and analyzed by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP).Serum biochemistry and bone mineral density of the patients undergoing maintenance peritoneal dialysis were detected by dual energy X-ray absorption (DEXA) and automatic biochemical analyzer,respectively.All data was analyzed with SPSS 19.0 software.Results The frequency distribution of VDR genotype between case group and control group had no significant difference (P ＞ 0.05).The serum biochemical index such as Ca,P,alkaline phosphatase (ALP) and parathyroid hormone (PTH)] of patients with maintenance peritoneal dialysis had no significant difference among three VDR genotypes(P ＞0.05).Compared to VDR bb genotype,the serum Ca was significantly higher in VDR BB genotype (P ＜0.05).The bone mineral density (BMD) and T-Score of patients with VDR BB genotype were the lowest,the BB genotype was the highest,and the difference was statistically significant among three genotypes (P ＜0.05).Conclusions The frequency distribution of VDR genotype between case group and control group had no significant difference.However,there is a correlation between VDR gene BsmⅠ sites and bone mineral density of maintenance peritoneal dialysis patients.
ABSTRACT
ObjectiveTo study the distribution characters and linkage disequilibrium of vitamin D receptor(VDR) gene ApaI and BsmI polymorphism,and explore the genetic susceptibility of VDR and vitamin D deficiency rickets.MethodsVDR gene ApaI and BsmI polymorphisms were determined by PCRRFLP technology in 56 cases of rickets and 76 cases of normal children.The frequencies of the VDR genotype and allele were compared between the two groups.The software SHEsis was used to make linkage disequilibrium analysis.Results No significant difference was found in either the frequency distribution of VDR gene ApaI and BsmI polymorphism or allele of them between two groups; Two polymorphisms didn't show linkage disequilibrium and D' and r2 were 0.23 and 0.01,respectively.ConclusionsThe ApaI and BsmI polymorphism of VDR gene might be not associated with vitamin D deficiency rickets.Two polymorphisms didn't show linkage disequilibrium.