Open Access Research article

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

Junko H Ohyashiki1*, Masayuki Yoneta2, Hisashi Hisatomi2, Tamiko Iwabuchi3, Tomohiro Umezu4 and Kazuma Ohyashiki34

Author Affiliations

1 Department of Molecular Oncology, Institute of Medical Science, Tokyo Medical University, Tokyo, Japan

2 Department of Materials and Life Science, Seikei University, Tokyo, Japan

3 First Department of Internal Medicine, Tokyo Medical University, Tokyo, Japan

4 Department of Molecular Science, Tokyo Medical University, Tokyo, Japan

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BMC Medical Genetics 2012, 13:6  doi:10.1186/1471-2350-13-6

Published: 17 January 2012

Additional files

Additional file 1:

Primers used in this study. (A) Primers used for PCR-direct sequencing. Primers 1, 7, 8, 9, and 10 were also used for allele-specific PCR to discriminate JAK2 V617F-positive and -negative alleles. (B) Primers used for SNP analysis in 138 MPN patients and 107 healthy controls.

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Additional file 2:

Six SNPs of the JAK2 locus in PV patients and normal controls. Six SNPs were sequenced using allele-specific primers (Additional File 1). In normal controls, detected SNPs were located in the allele without JAK2 V617F mutation. In PV patients, detected SNPs were located in the mutated T allele of JAK2. The genotype that had minor alleles in all six SNPs was designated as the GGTCAC genotype. This genotype is more frequently observed in T allele of JAK2 V617F (19/28, 67.9%) than G allele in normal controls (6/28, 21.4%); the odds ratio was 7.74 (95% CI: 2.32-25.75). There were no significant differences in age or sex between normal controls and patients with PV.

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Additional file 3:

JAK2 SNP distribution in 9 patients with PMF. We could not statistically analyze the possible association between genotypes and clinical manifestations because of the small number of PMF patients in this single-institution study, however, results of genotypic analysis are shown in this table.

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