The Contribution of <i>JAK2</i> 46/1 Haplotype in the Predisposition to Myeloproliferative Neoplasms
Haplotype 46/1 (GGCC) consists of a set of genetic variations distributed along chromosome 9p.24.1, which extend from the Janus Kinase 2 gene to Insulin like <i>4</i>. Marked by four jointly inherited variants (rs3780367, rs10974944, rs12343867, and rs1159782), this haplotype has a stron...
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MDPI AG
2022-10-01
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| Series: | International Journal of Molecular Sciences |
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| Online Access: | https://www.mdpi.com/1422-0067/23/20/12582 |
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| author | Jhemerson Paes George A. V. Silva Andréa M. Tarragô Lucivana P. de Souza Mourão |
| author_facet | Jhemerson Paes George A. V. Silva Andréa M. Tarragô Lucivana P. de Souza Mourão |
| author_sort | Jhemerson Paes |
| collection | DOAJ |
| description | Haplotype 46/1 (GGCC) consists of a set of genetic variations distributed along chromosome 9p.24.1, which extend from the Janus Kinase 2 gene to Insulin like <i>4</i>. Marked by four jointly inherited variants (rs3780367, rs10974944, rs12343867, and rs1159782), this haplotype has a strong association with the development of <i>BCR-ABL1</i>-negative myeloproliferative neoplasms (MPNs) because it precedes the acquisition of the JAK2V617F variant, a common genetic alteration in individuals with these hematological malignancies. It is also described as one of the factors that increases the risk of familial MPNs by more than five times, 46/1 is associated with events related to inflammatory dysregulation, splenomegaly, splanchnic vein thrombosis, Budd–Chiari syndrome, increases in RBC count, platelets, leukocytes, hematocrit, and hemoglobin, which are characteristic of MPNs, as well as other findings that are still being elucidated and which are of great interest for the etiopathological understanding of these hematological neoplasms. Considering these factors, the present review aims to describe the main findings and discussions involving the 46/1 haplotype, and highlights the molecular and immunological aspects and their relevance as a tool for clinical practice and investigation of familial cases. |
| first_indexed | 2024-03-09T20:04:43Z |
| format | Article |
| id | doaj.art-55cd549ab465456f978910c064f2feb8 |
| institution | Directory Open Access Journal |
| issn | 1661-6596 1422-0067 |
| language | English |
| last_indexed | 2024-03-09T20:04:43Z |
| publishDate | 2022-10-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | International Journal of Molecular Sciences |
| spelling | doaj.art-55cd549ab465456f978910c064f2feb82023-11-24T00:33:52ZengMDPI AGInternational Journal of Molecular Sciences1661-65961422-00672022-10-0123201258210.3390/ijms232012582The Contribution of <i>JAK2</i> 46/1 Haplotype in the Predisposition to Myeloproliferative NeoplasmsJhemerson Paes0George A. V. Silva1Andréa M. Tarragô2Lucivana P. de Souza Mourão3Programa de Pós-Graduação em Ciências Aplicadas à Hematologia, Universidade do Estado do Amazonas (UEA), Manaus 69850-000, AM, BrazilPrograma de Pós-Graduação em Ciências Aplicadas à Hematologia, Universidade do Estado do Amazonas (UEA), Manaus 69850-000, AM, BrazilPrograma de Pós-Graduação em Ciências Aplicadas à Hematologia, Universidade do Estado do Amazonas (UEA), Manaus 69850-000, AM, BrazilPrograma de Pós-Graduação em Ciências Aplicadas à Hematologia, Universidade do Estado do Amazonas (UEA), Manaus 69850-000, AM, BrazilHaplotype 46/1 (GGCC) consists of a set of genetic variations distributed along chromosome 9p.24.1, which extend from the Janus Kinase 2 gene to Insulin like <i>4</i>. Marked by four jointly inherited variants (rs3780367, rs10974944, rs12343867, and rs1159782), this haplotype has a strong association with the development of <i>BCR-ABL1</i>-negative myeloproliferative neoplasms (MPNs) because it precedes the acquisition of the JAK2V617F variant, a common genetic alteration in individuals with these hematological malignancies. It is also described as one of the factors that increases the risk of familial MPNs by more than five times, 46/1 is associated with events related to inflammatory dysregulation, splenomegaly, splanchnic vein thrombosis, Budd–Chiari syndrome, increases in RBC count, platelets, leukocytes, hematocrit, and hemoglobin, which are characteristic of MPNs, as well as other findings that are still being elucidated and which are of great interest for the etiopathological understanding of these hematological neoplasms. Considering these factors, the present review aims to describe the main findings and discussions involving the 46/1 haplotype, and highlights the molecular and immunological aspects and their relevance as a tool for clinical practice and investigation of familial cases.https://www.mdpi.com/1422-0067/23/20/12582JAK2 germline haplotypemyeloid neoplasmshaplotypemolecular pathogenesissingle nucleotide polymorphisms |
| spellingShingle | Jhemerson Paes George A. V. Silva Andréa M. Tarragô Lucivana P. de Souza Mourão The Contribution of <i>JAK2</i> 46/1 Haplotype in the Predisposition to Myeloproliferative Neoplasms International Journal of Molecular Sciences JAK2 germline haplotype myeloid neoplasms haplotype molecular pathogenesis single nucleotide polymorphisms |
| title | The Contribution of <i>JAK2</i> 46/1 Haplotype in the Predisposition to Myeloproliferative Neoplasms |
| title_full | The Contribution of <i>JAK2</i> 46/1 Haplotype in the Predisposition to Myeloproliferative Neoplasms |
| title_fullStr | The Contribution of <i>JAK2</i> 46/1 Haplotype in the Predisposition to Myeloproliferative Neoplasms |
| title_full_unstemmed | The Contribution of <i>JAK2</i> 46/1 Haplotype in the Predisposition to Myeloproliferative Neoplasms |
| title_short | The Contribution of <i>JAK2</i> 46/1 Haplotype in the Predisposition to Myeloproliferative Neoplasms |
| title_sort | contribution of i jak2 i 46 1 haplotype in the predisposition to myeloproliferative neoplasms |
| topic | JAK2 germline haplotype myeloid neoplasms haplotype molecular pathogenesis single nucleotide polymorphisms |
| url | https://www.mdpi.com/1422-0067/23/20/12582 |
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