Vitamin D Receptor Gene Polymorphism And It's Association With Multiple Myeloma

Objective: To detect the genotype and allele distribution of vitamin D receptor gene(VDR)FokI(rs2228570),BsmI(rs1544410),ApaI(rs7975232)and TaqI(rs731236)in the population,and to explore the relationship between VDR gene polymorphism and multiple myeloma susceptibility.Methods: A case-control study combined with molecular biology techniques was used to collect peripheral blood samples and clinical data of 114 patients with multiple myeloma and 60 healthy controls in the people's Hospital of Xinjiang Autonomous region.Polymerase chain reaction(PCR)and gene sequencing were used to determine the gene polymorphism of VDR FokI,BsmI,ApaI and TaqI in peripheral blood.The VDR genotype,allele frequency distribution,linkage disequilibrium(LD),haplotype distribution and clinical data of each group were compared to analyze the relationship between VDR gene polymorphism and multiple myeloma susceptibility.Results:(1)the Hardy-Weinberg balance test of each locus in the case group and the control group showed that the P values of each locus in the control group were all more than 0.05.(2)the distribution frequency of BsmI locus A allele was 14.2% in the case group and 3.6% in the control group(P < 0.05),which was a high risk allele.(3)there is a strong LD among BsmI-TaqI,D'=0.893 and r2>0.33.(4)the distribution frequency of CGTT haplotype was 5.0% in the case group and 12.5% in the control group(P < 0.05),which was a protective factor.The distribution frequency of TGTT haplotype was 13.0% in the case group and 5.4% in the control group(P < 0.05),which was a risk factor for MM.(5)FokI locus was related to serum albumin content(P < 0.05).),BsmI locus was related to onset(P < 0.05).),ApaI locus was related to ISS stage(P < 0.05).),TaqI was related to sex and onset(P < 0.05).Conclusion:(1)there are genetic polymorphisms of VDR gene FokI,BsmI,ApaI and TaqI in the studied population.(2)A allele at BsmI site of VDR gene is a high risk allele and may be a susceptible gene for multiple myeloma.(3)there is a strong linkage disequilibrium among the BsmI-TaqI of VDR gene.(4)TGTT haplotype may be the susceptible haplotype of multiple myeloma,and CGTT haplotype may be the protective haplotype of multiple myeloma.(5)FokI locus of VDR gene was correlated with serum albumin content,BsmI locus was correlated with the onset of multiple myeloma,ApaI locus was correlated with ISS stage of MM,and TaqI locus was correlated with sex and onset.