Mdr1 Single Nucleotide Polymorphism Analysis And Correlation With Multiple Myeloma

ObjectiveTo study the frequency distribution of MDR1gene SNPs and haplotypes ofJiangsu Han population in China, as well as the disease association analysis of MDR1SNPs in multiple myeloma (MM) patients.MethodsASP-PCR and DNA sequencing were employed in MDR1typing at three loci:C1236T (rs1128503), G2677T/A (rs2032582) and C3435T (rs1045642) for healthycontrols and MM patients. Popular genetic statistical software of Arlequin, Phylip,Treeview and SPSS were used to analyze the gene and haplotype polymorphism anddisease association study.ResultsIn total, C and T were found at locus C1236T, with the frequency of35%and65%, respectively. The most frequent allele at locus G2677T/A was G with thefrequency of44%, followed by T (41%) and A (15%). At locus C3435T, C was morecommon (60%) than T (40%). The most common haplotype at loci1236-2677-3435was T-T-T (31.84%), at loci1236-2677was T-T (37.68%), at loci2677-3435was G-C(39.06%), and at loci1236-3435was T-T (34.28%). The haplotype linkagedisequilibrium study found that all three loci were in linkage disequilibrium, such asT-T at loci1236-2677, T-T at loci2677-3435and C-C at loci1236-3435(P＜0.01).The dendrogram study indicated that the distribution of MDR1SNPs in Jiangsu Hanpopulation were close to Japan and Malay populations and far away from Europeancountries.In comparison with the MDR1gene distribution characteristics between MM andhealthy control populations, differences with statistical significance were found ingenotype of CT at locus C3435T (MM group62.22%versus control group44.89%)with odds ratio (OR)2.03. ConclusionMDR1SNPs study showed some distribution characteristics and linkagedisequilibrium, which may shade new lights in population genetics and anthropologystudies of Han-Chinese. It also provides basic data for research on MDR1genepolymorphism, disease association and drug resistance study.The association study between MDR1SNPs and MM patients suggest that CTgenotype at locus C3435T might imply a susceptive effect on MM acquisition in ourpopulation.