RRML - SH2B3 (LNK) rs3184504 polymorphism is correlated with JAK2 V617F-positive myeloproliferative neoplasms

ISSN online: 2284-5623

ISSN-L: 1841-6624

Rejection rate (2020): 75%

Română English

Journal Metrics

Impact Factor 0.493
Five Year Impact Factor 0.531
SNIP 0.373
JCI 0.17

Advanced search

Top 10 downloaded articles
- February 2023 -
On the relationship between CT... 6
The Role of procollagen type 1... 6
Association of HLA class II al... 5
Making the most out of profici... 5
Management of a case of Castle... 5
The Role of Prostate-Specific ... 3
Ischemia modified albumin in e... 3
The potential of programmed de... 3
Atellica CH 930 chemistry anal... 3
Ferritin and procalcitonin in ... 3

Log in

Concept, Design & Programming
Dr. Adrian Man

Nr. 28(3)/2020 DOI:10.2478/rrlm-2020-0025

Research article

SH2B3 (LNK) rs3184504 polymorphism is correlated with JAK2 V617F-positive myeloproliferative neoplasms

Adrian P. Trifa, Diana L. Lighezan, Cristina Jucan, Florin Tripon, Dana R. Arbore, Anca Bojan, Ștefana Gligor-Popa, Raluca M. Pop, Delia Dima, Claudia Bănescu

Correspondence should be addressed to: Adrian P. Trifa


Background: Pathogenesis and phenotypic diversity in myeloproliferative neoplasms (MPN) cannot be fully explained by the currently known acquired mutations alone. Some susceptible germline variants of different genes have been proved to be associated with the development of these diseases. The goal of our study was to evaluate the association between the rs3184504 polymorphism of SH2B3 (LNK) gene (p.R262W, c.784T>C) and the risk of developing the four typical MPN - polycythemia vera (PV), essential thrombocythemia (ET), primary myelofibrosis (PMF), and chronic myeloid leukemia (CML). Material and methods: We investigated the SH2B3 rs3184504 T>C polymorphism by real-time PCR in 1901 MPN patients (575 with PV, 798 with ET, 251 with PMF, and 277 with CML), all of them harboring one of the specific driver mutations - JAK2 V617F or CALR in case of PV, ET and PMF, or BCR-ABL1 in case of CML, and 359 controls. Results: Overall, the TT homozygous genotype was significantly associated with BCR-ABL1-negative MPN (OR = 1.34; 95% CI = 1.03-1.74; crude p-value = 0.02; adjusted p-value = 0.04). The most significant association was seen in case of PV (OR = 1.54; 95% CI = 1.14-2.06; crude p-value = 0.004; adjusted p-value = 0.024). Also, SH2B3 rs3184504 correlated significantly with JAK2 V617F-positive MPN (OR = 1.36; 95% CI = 1.04 -1.77; crude p-value = 0.02; adjusted p-value = 0.08), but not with those CALR-positive. ET (regardless of molecular subtype) and CML were not correlated with SH2B3 rs3184504. Conclusions: The SH2B3 rs3184504 polymorphism is associated with risk of MPN development, especially PV. This effect is restricted to JAK2 V617F-positive PV and PMF only.

Keywords: myeloproliferative neoplasms, somatic mutations, genetic predisposition

Received: 15.2.2020
Accepted: 5.4.2020
Published: 12.4.2020

  PDF Download full text PDF
(448 KB)
How to cite
Trifa AP, Lighezan DL, Jucan C, Tripon F, Arbore DR, Bojan A, et al. SH2B3 (LNK) rs3184504 polymorphism is correlated with JAK2 V617F-positive myeloproliferative neoplasms. Rev Romana Med Lab. 2020;28(3):267-77. DOI:10.2478/rrlm-2020-0025