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conferenceseries.com
October 26-27, 2016 Chicago, USA
Annual Congress on
Rare Diseases & Orphan Drugs
Volume 7, Issue 5 (Suppl) J Genet Syndr Gene Ther
ISSN: 2157-7412 JGSGT, an open access journal Rare Diseases 2016
October 26-27, 2016
Association between FBN1 polymorphisms and TGF-β1 concentration within aneurysms and dissections
of ascending thoracic aorta
Ramune Sepetiene
Lithuanian University of Health Sciences, Lithuania
Transforming growth factor β1 (TGF-β1) is a cytokine that participates in a broad range of cellular regulatory processes and is
associated with various diseases including aortic aneurysm. An increased TGF-β1 level is associated with Marfan syndrome
(MFS) caused by fibrillin-1 (FBN1) mutations and subsequent defects in signaling system. FBN1 single nucleotide polymorphisms
(SNPs) rs2118181 and rs1059177 do not cause MFS but are associated with dilatative pathology of ascending aorta. A purpose of
the investigation was to test hypothesis does an association between FBN1 SNPs (rs2118181, rs1059177) and TGF-β1 level in human
blood plasma exist among sporadic cases of dilatative pathology of ascending aorta. A study group was recruited from 312 patients
who had undergone aortic reconstruction surgery due to dilatative pathology of ascending aorta and 741 healthy control subjects
of Kaunas population (N=269) without cardiovascular disorders, except hypertension. Genomic DNA was isolated from potassium
EDTA blood. Genotyping of FBN1 SNPs was carried out by using ABI 7900HT Real-time PCR Thermocycler with commercially
available kits from Applied Biosystems. TGF-β1 quantitated detection was tested with eBioscience Platinum human TGF- β1 ELISA
commercially available kit based on standard sandwich enzyme-linked immune-sorbent assay technology according manufacturers’
instructions. Non-parametric Kruskal-Wallis test was used for data analysis. The results showed a quantitative dependence of SNP
genotype and TGF-β1 concentration. A presence of a single rs2118181 minor allele (G) increased the median amount of TGF-β1
level. Two copies of FBN1 rs1059177 minor allele (G) were required to give a significant rise of TGF-β1 level in blood plasma. We also
found higher TGF-β1 concentrations in men compared to women (p=0.001). The results are indicating that presence of minor allele
of FBN1 SNPs rs2118181 or presence of homozygous genotype of minor alleles of rs1059177 is associated with the significant increase
in TGF-β1 blood plasma level but the mechanism of this association is still unknown.
Biography
Ramune Sepetiene is currently a PhD Student at Lithuanian University of Health Sciences. She has obtained her MD with medical laboratory specialization in 1999
from Lithuanian University of Health Sciences, Medicine Academy. She has more than 15 years of clinical work experience within immunology, hematology and
genetics. She is a Junior Researcher in Laboratory of Molecular Cardiology, Institute of Cardiology, LUHS and part time laboratory MD position in patients’ clinic.
Recently she has published 4 papers within PhD dissertation subject in reputed journals of cardiac surgery and genetics.
Ramune Sepetiene, J Genet Syndr Gene Ther 2016, 7:5 (Suppl)