title: [Study of hypermethylation of SOCS gene in typical myeloproliferative disease].
abstract: OBJECTIVE
  To investigate the clinical role of hypermethylation of suppressor of cytokine signaling (SOCS) on typical myeloproliferative disease (MPD) patients and its mechanism.
  
  
  METHODS
  Methylation specific PCR was used to detect SOCS1, 2, 3 methylation, direct DNA sequencing was performed to detect JAK2V617F mutation, real-time fluorescence quantitative PCR were applied to evaluate transcriptional activity of SOCS1, 2, 3.
  
  
  RESULTS
  Among 100 MPD patients, hypermethylation of SOCS1 was detected in 27 (27%), hypermethylation of SOCS2 in 9 (9%), hypermethylation of SOCS3 in 34 (34%); JAK2V617F mutation in 64 (64%). Hypermethylation of SOCS1, 3 greatly inhibited gene expression compared with unmethylated ones (P < 0.05). Presence of JAK2V617F mutation markedly down-regulated SOCS1, 3 gene mRNA expression compared with wild JAK2V617F (P < 0.05).
  
  
  CONCLUSIONS
  Hypermethylation of SOCS1, 3 and JAK2V617F mutation exist in MPD, which inhibited SOCS1, 3 gene expression. SOCS hypermethylation and JAK2V617F mutation can activate JAK-STAT signaling pathways, these observations may provide a potential therapeutic direction.
authors.affiliation: Department of Hematology, Tongji Hospital, Tongji University, Shanghai, China.
authors.forename: Wei
authors.initials: W
authors.lastname: Qin
authors.forename: Ling-li
authors.initials: LL
authors.lastname: Li
authors.forename: Hui-na
authors.initials: HN
authors.lastname: Lu
authors.forename: Bin-bin
authors.initials: BB
authors.lastname: Huang
authors.forename: Bing
authors.initials: B
authors.lastname: Xiu
authors.forename: Lan-jun
authors.initials: LJ
authors.lastname: Bo
authors.forename: Qing-mei
authors.initials: QM
authors.lastname: Gao
authors.forename: Wen-jun
authors.initials: WJ
authors.lastname: Zhang
authors.forename: Jian-fei
authors.initials: JF
authors.lastname: Fu
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D019175:DNA Methylation; D005260:Female; D006801:Humans; D053614:Janus Kinase 2 / Q000235:genetics; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009196:Myeloproliferative Disorders / Q000235:genetics / Q000378:metabolism*; D012333:RNA, Messenger / Q000235:genetics; D015398:Signal Transduction; D050826:Suppressor of Cytokine Signaling Proteins / Q000235:genetics / Q000378:metabolism*; D055815:Young Adult
chemical_list: D012333:RNA, Messenger; D050826:Suppressor of Cytokine Signaling Proteins; C507924:JAK2 protein, human; D053614:Janus Kinase 2