Table · dataset · 2026
Table 1_Characterization of JAK2V617F and the JAK2 46/1 germline haplotype in myeloproliferative neoplasms in a Saudi Arabian cohort: a case-based analysis.docx
Listed in figshare
Background<p>JAK2V617F is an important mutation associated with myeloproliferative neoplasms (MPNs).
Description
The germline JAK2 46/1 haplotype is an established low-penetrance predisposition factor for MPNs across multiple ethnicities. This study aimed to characterize JAK2V617F mutation prevalence and JAK2 46/1 haplotype distribution in a Saudi Arabian MPN cohort.</p>Methods<p>A retrospective cohort study was conducted at King Fahad Medical City, Riyadh, Saudi Arabia.
A total of 130 participants (98 MPN patients and 32 non-MPN controls) were enrolled between January 2018 and December 2019. JAK2V617F mutation status was determined by allele-specific TaqMan qPCR. SNPs rs12343867 and rs10974900 were genotyped using validated TaqMan SNP assays to define haplotype carrier status.</p>Results<p>JAK2V617F was detected in 13.1% of patients (n=17; 9 females, 8 males), with no statistically significant sex-based difference in mutation frequency.
Read the rest (2 more)
At rs12343867, the aggregate 46/1 haplotype carrier frequency was 80.7% (homozygous TT: 51.5%; heterozygous CT: 29.2%). By MPN subtype, TT homozygosity was most prevalent in ET (56.3%). By MPN subtype, the CC genotype predominated in ET (57.8%), PV (50.0%), PMF (75.0%), and non-MPN controls (54.8%).</p>Conclusions<p>This is the first study to simultaneously characterize JAK2V617F and the germline JAK2 46/1 haplotype in a Saudi Arabian MPN cohort.
The elevated haplotype carrier frequency supports an inherited predisposition to MPN in this population and positions the JAK2 46/1 haplotype as a candidate supplementary biomarker for risk stratification. Prospective, multi-centre studies incorporating comprehensive driver mutation profiling and population-matched healthy controls are warranted.</p>
Links
Where it is published
- DOI doi.org/10.3389/fonc.2026.1910710.s001 ↗
DOI / persistent id · from figshare com
Catalogue records · 1
- OAI-PMH record api.figshare.com/v2/oai?verb=GetRecord&metadataPrefix=oai_dc&identifier=oai%3Af… ↗
metadata API · from figshare com
Topics
- From keywords
- Astronomy & Astrophysics · Chemistry · Computer Science & AI · Earth & Environmental Science · Economics & Finance · Engineering · Humanities · Life Sciences · Medicine & Health · Ocean & Atmospheric Science · Social Science
- Inferred from text
- Computed tomography 50% · Longitudinal study 65% · Oncology and carcinogenesis 72% · Tabular 65%
Provenance · 1 source records, 20 field assertions
| Source | Key | Last seen | Raw |
|---|---|---|---|
| figshare | oai:figshare.com:article/33770800 | 10 d ago | JSON v1 |
| Field | Assertion | Extractor | Evidence |
|---|---|---|---|
| access_level | source · figshare com | connector:figshare_com@1.0.0 | |
| concepts[field].anzsrc:group:3211 | enrichment · figshare com | taxonomy-embedding@1.0.0 | title+keywords+description (72%) |
| concepts[field].local:field:astronomy | mapping · figshare com | connector:figshare_com@1.0.0 | |
| concepts[field].local:field:chemistry | mapping · figshare com | connector:figshare_com@1.0.0 | |
| concepts[field].local:field:computer-science-ai | mapping · figshare com | connector:figshare_com@1.0.0 | |
| concepts[field].local:field:earth-environmental | mapping · figshare com | connector:figshare_com@1.0.0 | |
| concepts[field].local:field:economics-finance | mapping · figshare com | connector:figshare_com@1.0.0 | |
| concepts[field].local:field:engineering | mapping · figshare com | connector:figshare_com@1.0.0 | |
| concepts[field].local:field:humanities | mapping · figshare com | connector:figshare_com@1.0.0 | |
| concepts[field].local:field:life-sciences | mapping · figshare com | connector:figshare_com@1.0.0 | |
| concepts[field].local:field:medicine-health | mapping · figshare com | connector:figshare_com@1.0.0 | |
| concepts[field].local:field:ocean-atmospheric | mapping · figshare com | connector:figshare_com@1.0.0 | |
| concepts[field].local:field:social-science | mapping · figshare com | connector:figshare_com@1.0.0 | |
| concepts[method].local:method:longitudinal-study | enrichment · figshare com | keyword-concept-rules@1.0.0 | title+description (65%) |
| concepts[modality].local:modality:ct | enrichment · figshare com | keyword-concept-rules@1.0.0 | title+description (50%) |
| concepts[modality].local:modality:tabular | enrichment · figshare com | keyword-concept-rules@1.0.0 | title+description (65%) |
| description | source · figshare com | connector:figshare_com@1.0.0 | /metadata/dc/description |
| license | source · figshare com | connector:figshare_com@1.0.0 | /metadata/dc/rights |
| publication_date | source · figshare com | connector:figshare_com@1.0.0 | |
| title | source · figshare com | connector:figshare_com@1.0.0 | /metadata/dc/title |