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Association between Fibrillin1 Polymorphisms (rs2118181, rs10519177) and Transforming Growth Factor ?1 Concentration in Human Plasma.

ABSTRACT: Transforming growth factor (TGF)-?1 is a cytokine that participates in a broad range of cellular regulatory processes and is associated with various diseases including aortic aneurysm. Increased TGF-?1 levels are linked to Marfan syndrome (MFS) caused by fibrillin1 (FBN1) mutations and subsequent defects in signaling system. FBN1 single nucleotide polymorphisms (SNPs) rs2118181 and rs1059177 do not cause MFS but are associated with dilative pathology of aortic aneurysms (DPAAs). TGF-?1 and FBN1 SNPs rs2118181 and rs1059177 are potential biomarkers for early diagnosis of DPAA. We investigated the relationship between TGF-?1 levels in human blood plasma and FBN1 rs2118181 and rs1059177 in 269 individuals. The results showed a quantitative dependence of SNP genotype and TGF-?1 concentration. Presence of a single rs2118181 minor allele (G) increased the amount of TGF-?1 by roughly 1 ng/mL. Two copies of FBN1 rs1059177 minor allele (G) were required to have an additive effect on TGF-?1 levels. We found higher TGF-?1 concentrations in men compared with women (p = 0.001). A strong correlation between TGF-?1 levels and FBN1 SNPs suggests that a single nucleotide substitution in FBN1 sequence might reduce bioavailability or binding properties of fibrillin-1 and have an effect on TGF-?1 activation and cytokine concentration in blood plasma. By establishing the relationship between TGF-?1 and FBN1 SNPs rs2118181 and rs1059177, we provide evidence that their combination might be used as molecular biomarkers to identify patients at risk for sporadic ascending aortic aneurysm and aortic dissection.

SUBMITTER: Sepetiene R

PROVIDER: S-EPMC4749488 | biostudies-literature | 2015 Nov

REPOSITORIES: biostudies-literature

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Association between Fibrillin1 Polymorphisms (rs2118181, rs10519177) and Transforming Growth Factor β1 Concentration in Human Plasma.

Sepetiene Ramune R Patamsyte Vaiva V Zukovas Giedrius G Jariene Giedre G Stanioniene Zita Z Benetis Rimantas R Tamosiunas Abdonas A Lesauskaite Vaiva V

Molecular medicine (Cambridge, Mass.) 20150824 1

Transforming growth factor (TGF)-β1 is a cytokine that participates in a broad range of cellular regulatory processes and is associated with various diseases including aortic aneurysm. Increased TGF-β1 levels are linked to Marfan syndrome (MFS) caused by fibrillin1 (FBN1) mutations and subsequent defects in signaling system. FBN1 single nucleotide polymorphisms (SNPs) rs2118181 and rs1059177 do not cause MFS but are associated with dilative pathology of aortic aneurysms (DPA ...[more]

PMID: 26322848

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Project description:ObjectiveTo explore the association between transforming growth factor-beta1 (TGF-?1) T869C polymorphism and risk of ischemic stroke (IS) by performing a meta-analysis based on published articles.MethodsSystematic electronic searches of PubMed, Science Direct, BIOSIS Previews, Chinese Biomedical Database, Chinese National Knowledge Infrastructure, and WANFANG Database were performed. The strength of the association was calculated by pooled odds ratios (ORs) with 95% confidence intervals (95%CIs). Subgroup analysis was conducted to explore potential sources of heterogeneity. Sensitivity analysis was performed to elucidate the stability of the outcomes. Publication bias was evaluated by Begg's funnel plot and Egger's test.ResultsA total of 6 studies involving 1701 cases were included. The overall estimates did not show any significant association between TGF-?1 T869C polymorphism and risk of IS under all genetic models (C vs. T: OR?=?1.08,95%CI?=?0.88-1.32; CC vs. TT:OR?=?1.17,95%CI?=?0.79-1.72; CT vs. TT: OR?=?0.91, 95%CI?=?0.68-1.22; CC+CT vs. TT: OR?=?0.99, 95%CI?=?0.73-1.35; CC vs. CT+TT: OR?=?1.23, 95%CI?=?0.95-1.59). Similar lacking associations were observed in subgroup analysis based on ethnicity and source of controls. When stratified by study design, significant increased association of IS risk was found in cohort studies under genetic models except recessive model(C vs. T: OR?=?1.18, 95%CI?=?1.05-1.32; CC vs. TT: OR?=?1.40, 95%CI?=?1.10-1.77; CT vs. TT: OR?=?1.23, 95%CI?=?1.02-1.49; CC+CT vs. TT: OR?=?1.27, 95%CI?=?1.03-1.57; CC vs. CT+TT, OR?=?1.21, 95%CI?=?0.99-1.47), whereas in case-control studies a significant decreased risk was detected under heterozygote comparison(CT vs. CC: OR?=?0.72, 95%CI?=?0.57-0.92). However, after correction for multiple testing, the associations were observed to be null significant in both cohort and case-control subgroups among all genetic models.ConclusionThis meta-analysis suggested that current epidemiological studies of TGF-?1 T869C polymorphism are too inconsistent to draw a conclusion on the association with IS susceptibility. Given the small sample size and remarkable between-study heterogeneity, further well-designed prospective large-scale studies are warranted.

Dataset Information

Association between Fibrillin1 Polymorphisms (rs2118181, rs10519177) and Transforming Growth Factor ?1 Concentration in Human Plasma.

Publications

Association between <i>Fibrillin1</i> Polymorphisms (rs2118181, rs10519177) and Transforming Growth Factor β1 Concentration in Human Plasma.

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