title: [Mutations of vitamin D receptor gene found in patients with multiple myeloma].
abstract: Objective:To explore the mutations of vitamin D receptor (VDR) gene in patients with multiple myeloma (MM).Methods:Polymerase chain reaction (PCR) and direct DNA sequencing were used to detect the mutations of VDR gene(loci Fok Ⅰ, Bsm Ⅰ, Apa Ⅰ, Taq Ⅰ) in forty MM cases and 84 healthy control subjects.Results:A synonymous mutation (ATC→ATA , both encode isoleucine) at cDNA codon1421 of VDR gene was found in one MM patients, which correlated to a better therapeutic response. Rare Bsm Ⅰ AA genotype and Taq Ⅰ CC genotype were detected in a MM patient, which might be related to the relapsing and refracfory disease. Meanwhile, a rare allele(rs201747972, global MAF: A=0.0005/1), was found in another MM patient, which might be related to MM cell lines of two origins. rs11574113 G>C, rs2229829 C>A and rs201747972 C>T polymorphic loci(the same as Fok Ⅰ, Bsm Ⅰ, Apa Ⅰ and Taq Ⅰ) were found in a MM patient, which were associated with nonsense-mediated mRNA decay(NMD), contributing to the onset of MM.Conclusions:A new synonymous mutation, rare genotype, rare allele and new SNP are found in this study. These data enrich the genetic information of MM in China, and are helpful for the further research on MM pathogenesis.
authors.affiliation: Department of Hematology, Chengdu Military General Hospital, Chengdu 610083, China.
authors.forename: Y
authors.initials: Y
authors.lastname: Liu
authors.affiliation: Department of Hematology, the First Affiliated Hospital of Fujian Medical University, Fuzhou 350005, China.
authors.forename: H B
authors.initials: HB
authors.lastname: Rui
mesh_terms: D000483:Alleles; D002681:China; D005260:Female; D005838:Genotype; D006801:Humans; D008297:Male; D009101:Multiple Myeloma / Q000235:genetics*; D009154:Mutation; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D018167:Receptors, Calcitriol / Q000235:genetics*; D017422:Sequence Analysis, DNA
chemical_list: D018167:Receptors, Calcitriol
keywords: Multiple myeloma; Rare allele; Rare genotypes; Synonymous mutation; Vitamin D receptor