The 'GGCC' haplotype of JAK2 confers susceptibility to JAK2 exon 12 mutation-positive polycythemia vera

Leukemia

Volumn 23, Issue 10, 2009, Pages 1924-1926

  Olcaydu, D ^a   Skoda, R C ^b   Looser, R ^b   Li, S ^b   Cazzola, M ^c   Pietra, D ^c   Passamonti, F ^c   Lippert, E ^d   Carillo, S ^e   Girodon, F ^f   Vannucchi, A ^g   Reading, N S ^h   Prchal, J T ⁱ   Ay, C ^j   Pabinger, I ^j   Gisslinger, H ^j   Kralovics, R ^a,j  

^a ERICH SCHMID INSTITUTE OF MATERIALS SCIENCE   (Austria)

^b UNIVERSITY HOSPITAL BASEL   (Switzerland)

^c UNIVERSITY OF PAVIA   (Italy)

^d BORDEAUX UNIVERSITY HOSPITAL   (France)

^e NÎMES UNIVERSITY HOSPITAL   (France)

^f HÔPITAL DU BOCAGE   (France)

^g UNIVERSITY OF FLORENCE   (Italy)

^h ARUP INSTITUTE FOR CLINICAL AND EXPERIMENTAL PATHOLOGY   (United States)

ⁱ UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

^j MEDICAL UNIVERSITY OF VIENNA   (Austria)

more..

Author keywords

[No Author keywords available]

Indexed keywords

JANUS KINASE 2;

ARTICLE; EXON; GENE DUPLICATION; GENE FREQUENCY; GENE LINKAGE DISEQUILIBRIUM; GENE MUTATION; GENETIC ASSOCIATION; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; HAPLOTYPE; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; PATHOGENESIS; POLYCYTHEMIA VERA; PRIORITY JOURNAL; PROMOTER REGION; SINGLE NUCLEOTIDE POLYMORPHISM;

EID: 70350111160     PISSN: 08876924     EISSN: 14765551     Source Type: Journal    
DOI: 10.1038/leu.2009.110     Document Type: Article

References (8)

1. Campbell PJ, Green AR. The myeloproliferative disorders. N Engl J Med 2006; 355: 2452-2466.
2. Scott LM, Tong W, Levine RL, Scott MA, Beer PA, Stratton MR et al. JAK2 exon 12 mutations in polycythemia vera and idiopathic erythrocytosis. N Engl J Med 2007; 356: 459-468.
3. Pardanani A, Fridley BL, Lasho TL, Gilliland DG, Tefferi A. Host genetic variation contributes to phenotypic diversity in myelo-proliferative disorders. Blood 2008; 111: 2785-2789.
4. James C, Ugo V, Le Couedic JP, Staerk J, Delhommeau F, Lacout C et al A unique clonal JAK2 mutation leading to constitutive signalling causes polycythaemia vera. Nature 2005; 434: 1144-1148.
5. Wernig G, Mercher T, Okabe R, Levine RL, Lee BH, Gilliland DG. Expression of Jak2V617F causes a polycythemia vera-like disease with associated myelofibrosis in a murine bone marrow transplant model. Blood 2006; 107: 4274-4281.
6. Olcaydu D, Harutyunyan A, Jager R, Berg T, Gisslinger B, Pabinger I et al. A common JAK2 haplotype confers susceptibility to myelo-proliferative neoplasms. Nat Genet 2009; 41: 450-454.
7. Jones AV, Chase A, Silver RT, Oscier D, Zoi K, Wang YL et al. JAK2 haplotype is a major risk factor for the development of myeloproliferative neoplasms. Nat Genet 2009; 41: 446-449.
8. Kilpivaara O, Mukherjee S, Schram AM, Wadleigh M, Mullally A, Ebert BL et al. A germline JAK2 SNP is associated with predisposition to the development of JAK2(V617F)-positive myeloproliferative neoplasms. Nat Genet 2009; 41: 455-459.