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PubMed_Structured_Abstracts

Id Subject Object Predicate Lexical cue
T1 167-678 BACKGROUND denotes Polycythemia vera (PV), essential thrombocythemia (ET), and primary myelofibrosis (PMF) are myeloproliferative neoplasms (MPNs) characterized in most cases by a unique somatic mutation, JAK2 V617F. Recent studies revealed that JAK2 V617F occurs more frequently in a specific JAK2 haplotype, named JAK2 46/1 or GGCC haplotype, which is tagged by rs10974944 (C/G) and/or rs12343867 (T/C). This study examined the impact of single nucleotide polymorphisms (SNPs) of the JAK2 locus on MPNs in a Japanese population.
T2 688-1086 METHODS denotes We sequenced 24 JAK2 SNPs in Japanese patients with PV. We then genotyped 138 MPN patients (33 PV, 96 ET, and 9 PMF) with known JAK2 mutational status and 107 controls for a novel SNP, in addition to two SNPs known to be part of the 46/1 haplotype (rs10974944 and rs12343867). Associations with risk of MPN were estimated by odds ratios and their 95% confidence intervals using logistic regression.
T3 1096-2016 RESULTS denotes A novel locus, rs4495487 (T/C), with a mutated T allele was significantly associated with PV. Similar to rs10974944 and rs12343867, rs4495487 in the JAK2 locus is significantly associated with JAK2-positive MPN. Based on the results of SNP analysis of the three JAK2 locus, we defined the "GCC genotype" as having at least one minor allele in each SNP (G allele in rs10974944, C allele in rs4495487, and C allele in rs12343867). The GCC genotype was associated with increased risk of both JAK2 V617F-positive and JAK2 V617F-negative MPN. In ET patients, leukocyte count and hemoglobin were significantly associated with JAK2 V617F, rather than the GCC genotype. In contrast, none of the JAK2 V617F-negative ET patients without the GCC genotype had thrombosis, and splenomegaly was frequently seen in this subset of ET patients. PV patients without the GCC genotype were significantly associated with high platelet count.
T4 2030-2466 CONCLUSIONS denotes Our results indicate that the C allele of JAK2 rs4495487, in addition to the 46/1 haplotype, contributes significantly to the occurrence of JAK2 V617F-positive and JAK2 V617F-negative MPNs in the Japanese population. Because lack of the GCC genotype represents a distinct clinical-hematological subset of MPN, analyzing JAK2 SNPs and quantifying JAK2 V617F mutations will provide further insights into the molecular pathogenesis of MPN.

PubmedHPO

Id Subject Object Predicate Lexical cue
T1 167-179 HP_0001901 denotes Polycythemia
T2 235-248 HP_0011974 denotes myelofibrosis
T3 278-287 HP_0002664 denotes neoplasms
T4 335-351 HP_0001428 denotes somatic mutation

Allie

Id Subject Object Predicate Lexical cue
SS1_22251709_2_0 167-184 expanded denotes Polycythemia vera
SS2_22251709_2_0 186-188 abbr denotes PV
SS1_22251709_2_1 191-216 expanded denotes essential thrombocythemia
SS2_22251709_2_1 218-220 abbr denotes ET
SS1_22251709_2_2 227-248 expanded denotes primary myelofibrosis
SS2_22251709_2_2 250-253 abbr denotes PMF
SS1_22251709_2_3 259-287 expanded denotes myeloproliferative neoplasms
SS2_22251709_2_3 289-293 abbr denotes MPNs
SS1_22251709_4_0 588-619 expanded denotes single nucleotide polymorphisms
SS2_22251709_4_0 621-625 abbr denotes SNPs
AE1_22251709_2_0 SS1_22251709_2_0 SS2_22251709_2_0 abbreviatedTo Polycythemia vera,PV
AE1_22251709_2_1 SS1_22251709_2_1 SS2_22251709_2_1 abbreviatedTo essential thrombocythemia,ET
AE1_22251709_2_2 SS1_22251709_2_2 SS2_22251709_2_2 abbreviatedTo primary myelofibrosis,PMF
AE1_22251709_2_3 SS1_22251709_2_3 SS2_22251709_2_3 abbreviatedTo myeloproliferative neoplasms,MPNs
AE1_22251709_4_0 SS1_22251709_4_0 SS2_22251709_4_0 abbreviatedTo single nucleotide polymorphisms,SNPs

DisGeNET5_variant_disease

Id Subject Object Predicate Lexical cue
22251709-1#191#196#geners77375493 358-363 geners77375493 denotes V617F
22251709-1#0#17#diseaseC0032463 167-184 diseaseC0032463 denotes Polycythemia vera
22251709-1#19#21#diseaseC0032463 186-188 diseaseC0032463 denotes PV
22251709-1#60#81#diseaseC0001815 227-248 diseaseC0001815 denotes primary myelofibrosis
22251709-1#83#86#diseaseC0001815 250-253 diseaseC0001815 denotes PMF
191#196#geners773754930#17#diseaseC0032463 22251709-1#191#196#geners77375493 22251709-1#0#17#diseaseC0032463 associated_with V617F,Polycythemia vera
191#196#geners7737549319#21#diseaseC0032463 22251709-1#191#196#geners77375493 22251709-1#19#21#diseaseC0032463 associated_with V617F,PV
191#196#geners7737549360#81#diseaseC0001815 22251709-1#191#196#geners77375493 22251709-1#60#81#diseaseC0001815 associated_with V617F,primary myelofibrosis
191#196#geners7737549383#86#diseaseC0001815 22251709-1#191#196#geners77375493 22251709-1#83#86#diseaseC0001815 associated_with V617F,PMF

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
22251709-0#16#20#gene3717 16-20 gene3717 denotes JAK2
22251709-0#84#111#diseaseC0027022 84-111 diseaseC0027022 denotes myeloproliferative neoplasm
22251709-4#16#20#gene3717 704-708 gene3717 denotes JAK2
22251709-4#52#54#diseaseC0032463 740-742 diseaseC0032463 denotes PV
22251709-5#72#76#gene3717 816-820 gene3717 denotes JAK2
22251709-5#56#59#diseaseC0001815 800-803 diseaseC0001815 denotes PMF
16#20#gene371784#111#diseaseC0027022 22251709-0#16#20#gene3717 22251709-0#84#111#diseaseC0027022 associated_with JAK2,myeloproliferative neoplasm
16#20#gene371752#54#diseaseC0032463 22251709-4#16#20#gene3717 22251709-4#52#54#diseaseC0032463 associated_with JAK2,PV
72#76#gene371756#59#diseaseC0001815 22251709-5#72#76#gene3717 22251709-5#56#59#diseaseC0001815 associated_with JAK2,PMF