Open Access Research article

Association of common variants in JAK2 gene with reduced risk of metabolic syndrome and related disorders

Alberto Penas-Steinhardt1*, Mariana L Tellechea¹12, Leonardo Gomez-Rosso3, Fernando Brites3, Gustavo D Frechtel24 and Edgardo Poskus2

  • * Corresponding author: Alberto Penas-Steinhardt

  • † Equal contributors

Author Affiliations

1 Humoral Immunity Institute "Prof. Ricardo A. Margni" (IDEHU), National Research Council (CONICET) & Chair of Immunology, School of Pharmacy and Biochemistry, University of Buenos Aires (UBA) - Argentina

2 Chair of Genetic, Department of Microbiology, Inmunology and Biotecnology, School of Pharmacy and Biochemistry, University of Buenos Aires (UBA) - Argentina

3 Laboratory of Lipids and lipoproteins, Department of Clinical Biochemistry, School of Pharmacy and Biochemistry. National Research Council (CONICET) & University of Buenos Aires (UBA) - Argentina

4 Genetics Division, Clinical Hospital "José de San Martín", University of Buenos Aires (UBA) - Argentina

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BMC Medical Genetics 2011, 12:166  doi:10.1186/1471-2350-12-166

Published: 20 December 2011



Disturbances in leptin and insulin signaling pathways are related to obesity and metabolic syndrome (MS) with increased risk of diabetes and cardiovascular disease. Janus kinase 2 (JAK2) is a tyrosine kinase involved in the activation of mechanisms that mediate leptin and insulin actions. We conducted a population cross-sectional study to explore the association between two common variants in JAK2 gene and MS related traits in 724 Argentinean healthy male subjects.


A total of 724 unrelated men aged 37.11 ± 10.91 yr were included in a cross-sectional study. Physical examination, anthropometric measurements and biochemical analysis were determined by a standardized protocol. rs7849191 and rs3780378 were genotyped. Analyses were done separately for each SNP and followed up by haplotype analysis.


rs7849191 and rs3780378 were both associated with reduced risk of MS [p = 0.005; OR (95%CI) = 0.52 (0.33-0.80) and p = 0.006; OR (95% CI) = 0.59 (0.40-0.86) respectively, assuming a dominant model]. rs3780378 T allele was associated with triglyceridemia values under 150 mg/dl [p = 0.007; OR (95%CI) = 0.610 (0.429-0.868)] and TT carriers showed lower triglycerides (p = 0.017), triglycerides/HDL-C ratio (p = 0.022) and lipid accumulation product (p = 0.007) compared to allele C carriers. The two-SNPs-haplotype analysis was consistent with single locus analysis.


It was found for the first time, significant associations of JAK2 common variants and related haplotypes with reduced risk of MS. These findings could be explained by the role of JAK2 in insulin and/or leptin signaling.