SNP information rs12343867

Research and publications:

  19287382   JAK2 haplotype is a major risk factor for the development of myeloproliferative neoplasms.

  19847198   The JAK2 46/1 haplotype confers susceptibility to essential thrombocythemia regardless of JAK2V617F mutational status-clinical correlates in a study of 226 consecutive patients.

  19847199   JAK2 germline genetic variation affects disease susceptibility in primary myelofibrosis regardless of V617F mutational status: nullizygosity for the JAK2 46/1 haplotype is associated with inferior survival.

  19922437   The JAK2 rs12343867 CC genotype frequently occurs in patients with splanchnic venous thrombosis without the JAK2V617F mutation: a retrospective study.

  20304805   The JAK2 46/1 haplotype predisposes to MPL-mutated myeloproliferative neoplasms.

  21173100   The role of the JAK2 GGCC haplotype and the TET2 gene in familial myeloproliferative neoplasms.

  21281225   JAK2V617F mutation is associated with special alleles in essential thrombocythemia.

  21364191   The JAK2 46/1 haplotype in Budd-Chiari syndrome and portal vein thrombosis.

  21497883   Sex modulation of the occurrence of jak2 v617f mutation in patients with splanchnic venous thrombosis.

  21791467   The prognostic impact of germline 46/1 haplotype of Janus kinase 2 in cytogenetically normal acute myeloid leukemia.

  22058280   The JAK2 46/1 haplotype: a marker of inappropriate myelomonocytic response to cytokine stimulation, leading to increased risk of inflammation, myeloid neoplasm, and impaired defense against infection?

  22251709   The C allele of JAK2 rs4495487 is an additional candidate locus that contributes to myeloproliferative neoplasm predisposition in the Japanese population.

  23188718   The influence of novel transcriptional regulatory element in intron 14 on the expression of Janus kinase 2 gene in myeloproliferative neoplasms.

  24972151   JAK2V617F mRNA metabolism in myeloproliferative neoplasm cell lines.

  25015051   The JAK2 46/1 haplotype (GGCC) in myeloproliferative neoplasms and splanchnic vein thrombosis: a pooled analysis of 26 observational studies.

  25526816   Genetic association between germline JAK2 polymorphisms and myeloproliferative neoplasms in Hong Kong Chinese population: a case-control study.

  26487696   Co-occurrence of Myeloproliferative Neoplasms and Solid Tumors Is Attributed to a Synergism Between Cytoreductive Therapy and the Common TERT Polymorphism rs2736100.

  26698117   Polymorphisms in the Toll-Like Receptor and the IL-23/IL-17 Pathways Were Associated with Susceptibility to Inflammatory Bowel Disease in a Danish Cohort.

  28139755   Genetically determined high activity of IL-12 and IL-18 in ulcerative colitis and TLR5 in Crohns disease were associated with non-response to anti-TNF therapy.

  29100304   Germline variations at JAK2, TERT, HBS1L-MYB and MECOM and the risk of myeloproliferative neoplasms in Taiwanese population.

  29641446   The JAK2 GGCC (46/1) Haplotype in Myeloproliferative Neoplasms: Causal or Random?

  30811631   Polymorphisms in the NFkB, TNF-alpha, IL-1beta, and IL-18 pathways are associated with response to anti-TNF therapy in Danish patients with inflammatory bowel disease.