title: Association of MDR1 single-nucleotide polymorphisms and haplotype variants with multiple myeloma in Chinese Jiangsu Han population.
abstract: Multidrug resistance 1 (MDR1) gene encodes P-glycoprotein (P-gp), which acts as an efflux pump and provides cell protection against various substances, and its single-nucleotide polymorphisms (SNPs) are associated with the development of malignant hematologic diseases. The present study aimed at investigating whether the MDR1 SNPs and haplotype variants were correlated with the susceptibility to multiple myeloma (MM). A total of 115 MM patients and 153 healthy controls from Jiangsu Han population were enrolled and genotyped by polymerase chain reaction-allele-specific primer (PCR-ASP) method or DNA direct sequencing at MDR1 loci of C1236T, G2677T/A, and C3435T. No significance was found in the distribution of alleles and genotypes in MDR1 three loci. Diplotype analysis has also demonstrated no effect in susceptibility to MM. But, in haplotype analysis, the haplotype of T-G-T was significantly more common than healthy controls (12.6 % in MM group vs. 1.7 % in control group, odds ratios (ORs) = 8.7, 95 % confidence interval (CI) 3.3-22.8, Pc  < 0.01). Our results pointed out that comparable allele, genotype, and diplotype frequencies among MM patients and controls in Chinese Jiangsu Han population were found; the frequency of T-G-T haplotype was significantly increased in MM group compared with the control group, which indicated that this haplotype might be associated with the susceptibility to MM.
authors.affiliation: Department of Hematology, The First Affiliated Hospital of Nanjing Medical University, Jiangsu Province Hospital, Nanjing, 210029, China.|Collaborative Innovation Center for Cancer Personalized Medicine, Nanjing Medical University, Nanjing, 210029, China.
authors.forename: Guangli
authors.initials: G
authors.lastname: Yin
authors.affiliation: Department of Hematology, The First Affiliated Hospital of Nanjing Medical University, Jiangsu Province Hospital, Nanjing, 210029, China.|Collaborative Innovation Center for Cancer Personalized Medicine, Nanjing Medical University, Nanjing, 210029, China.
authors.forename: Zhengrui
authors.initials: Z
authors.lastname: Xiao
authors.affiliation: Department of Hematology, The First Affiliated Hospital of Nanjing Medical University, Jiangsu Province Hospital, Nanjing, 210029, China.|Collaborative Innovation Center for Cancer Personalized Medicine, Nanjing Medical University, Nanjing, 210029, China.
authors.forename: Ying
authors.initials: Y
authors.lastname: Ni
authors.affiliation: Department of Hematology, The First Affiliated Hospital of Nanjing Medical University, Jiangsu Province Hospital, Nanjing, 210029, China.|Collaborative Innovation Center for Cancer Personalized Medicine, Nanjing Medical University, Nanjing, 210029, China.
authors.forename: Xiaoyan
authors.initials: X
authors.lastname: Qu
authors.affiliation: Department of Hematology, The First Affiliated Hospital of Nanjing Medical University, Jiangsu Province Hospital, Nanjing, 210029, China.|Collaborative Innovation Center for Cancer Personalized Medicine, Nanjing Medical University, Nanjing, 210029, China.
authors.forename: Hanxin
authors.initials: H
authors.lastname: Wu
authors.affiliation: Department of Hematology, The First Affiliated Hospital of Nanjing Medical University, Jiangsu Province Hospital, Nanjing, 210029, China.|Collaborative Innovation Center for Cancer Personalized Medicine, Nanjing Medical University, Nanjing, 210029, China.
authors.forename: Hua
authors.initials: H
authors.lastname: Lu
authors.affiliation: Department of Hematology, The First Affiliated Hospital of Nanjing Medical University, Jiangsu Province Hospital, Nanjing, 210029, China.|Collaborative Innovation Center for Cancer Personalized Medicine, Nanjing Medical University, Nanjing, 210029, China.
authors.forename: Sixuan
authors.initials: S
authors.lastname: Qian
authors.affiliation: Department of Hematology, The First Affiliated Hospital of Nanjing Medical University, Jiangsu Province Hospital, Nanjing, 210029, China.|Collaborative Innovation Center for Cancer Personalized Medicine, Nanjing Medical University, Nanjing, 210029, China.
authors.forename: Lijuan
authors.initials: L
authors.lastname: Chen
authors.affiliation: Department of Hematology, The First Affiliated Hospital of Nanjing Medical University, Jiangsu Province Hospital, Nanjing, 210029, China.|Collaborative Innovation Center for Cancer Personalized Medicine, Nanjing Medical University, Nanjing, 210029, China.
authors.forename: Jianyong
authors.initials: J
authors.lastname: Li
authors.affiliation: Department of Hematology, The First Affiliated Hospital of Nanjing Medical University, Jiangsu Province Hospital, Nanjing, 210029, China. qiuqiu1203@sina.com.|Collaborative Innovation Center for Cancer Personalized Medicine, Nanjing Medical University, Nanjing, 210029, China. qiuqiu1203@sina.com.
authors.forename: Hairong
authors.initials: H
authors.lastname: Qiu
authors.affiliation: Department of Hematology, The First Affiliated Hospital of Nanjing Medical University, Jiangsu Province Hospital, Nanjing, 210029, China. kourongmiao@163.com.|Collaborative Innovation Center for Cancer Personalized Medicine, Nanjing Medical University, Nanjing, 210029, China. kourongmiao@163.com.
authors.forename: Kourong
authors.initials: K
authors.lastname: Miao
mesh_terms: D018435:ATP Binding Cassette Transporter, Subfamily B / Q000235:genetics; D020168:ATP Binding Cassette Transporter, Subfamily B, Member 1 / Q000235:genetics; D000483:Alleles; D044466:Asian People / Q000235:genetics*; D005260:Female; D005787:Gene Frequency / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006239:Haplotypes / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009101:Multiple Myeloma / Q000235:genetics; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*
chemical_list: C513055:ABCB1 protein, human; D018435:ATP Binding Cassette Transporter, Subfamily B; D020168:ATP Binding Cassette Transporter, Subfamily B, Member 1
keywords: Multidrug resistance 1 (MDR1); Multiple myeloma (MM); Single-nucleotide polymorphism (SNP)