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Article

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

BMC medical genetics - 17 Jan 2012

Ohyashiki Junko H, Yoneta Masayuki, Hisatomi Hisashi, Iwabuchi Tamiko, Umezu Tomohiro, Ohyashiki Kazuma

Abstract excerpt

BACKGROUND: 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...

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Identifiers

PMID: 22251709
DOI: 10.1186/1471-2350-13-6
PMCID: PMC3277458

Genes

JAK2

Variants

Provenance

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Source receipt: pubmed, retrieved 7 Sept 2026.

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

JAK2 46/1 haplotype is associated with JAK2 V617F-positive myeloproliferative neoplasms in Japanese patients.Semantic proximity Read ↗

The G allele of the JAK2 rs10974944 SNP, part of JAK2 46/1 haplotype, is strongly associated with JAK2 V617F-positive myeloproliferative neoplasms.Semantic proximity Read ↗

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

A germline JAK2 SNP is associated with predisposition to the development of JAK2(V617F)-positive myeloproliferative neoplasms.Semantic proximity Read ↗

JAK2 46/1 (GGCC) Haplotype: A Biomarker for Oncogenesis, Risk Stratification, and Drug Resistance in Myeloproliferative NeoplasmsSemantic proximity Read ↗

A TET2 rs3733609 C/T genotype is associated with predisposition to the myeloproliferative neoplasms harboring JAK2(V617F) and confers a proliferative potential on erythroid lineages.Semantic proximity Read ↗

The Contribution of JAK2 46/1 Haplotype in the Predisposition to Myeloproliferative Neoplasms.Semantic proximity Read ↗

Germ line variants predispose to both JAK2 V617F clonal hematopoiesis and myeloproliferative neoplasms.Semantic proximity Read ↗

JAK2 haplotype is a major risk factor for the development of myeloproliferative neoplasms.Semantic proximity Read ↗

Genetic Characteristics of Polycythemia Vera and Essential Thrombocythemia in Korean Patients.Semantic proximity Read ↗

Association of JAK2 Haplotype GGCC_46/1 with the Response to Onco-Drug in MPNs Patients Positive for JAK2V617F MutationSemantic proximity Read ↗

JAK2V617F allele burden, JAK2 46/1 haplotype and clinical features of Chinese with myeloproliferative neoplasmsSemantic proximity Read ↗

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