association of common variants in jak2 gene with reduced risk of metabolic syndrome and related disorders协会在jak2基因常见变异降低代谢综合征及相关疾病的风险.pdfVIP

Penas-Steinhardt et al. BMC Medical Genetics 2011, 12:166 /1471-2350/12/166 RESEARCH ARTICLE Open Access Association of common variants in JAK2 gene with reduced risk of metabolic syndrome and related disorders 1*† 1,2† 3 3 Alberto Penas-Steinhardt , Mariana L Tellechea¹ , Leonardo Gomez-Rosso , Fernando Brites , Gustavo D Frechtel2,4 and Edgardo Poskus2 Abstract Background: 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. Methods: 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. Results: 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 analysi