FBN1 polymorphisms in patients with the dilatative pathology of the ascending thoracic aorta

Lesauskaitė, Vaiva; Sepetiene, Ramune; Jarienė, Giedrė; Patamsytė, Vaiva; Žukovas, Giedrius; Grabauskyte, Ingrida; Stanionienė, Zita; Širmenis, Raimondas; Benetis, Rimantas

doi:10.1093/ejcts/ezu520

Cited by 15 publications

(9 citation statements)

References 18 publications

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“…Our data demonstrated that presence of rs2118181 minor allele significantly increased median TGF-β1 values, whereas such effect in rs10519177 was achieved only by homozygous carriers of two minor alleles. Moreover, these regularities correspond to the earlier reported associations between DPAA phenotypes and the genotyped FBN1 SNPs (6). According to these data, an additive minor allele model fitted best in describing the association between rs2118181 and aneurysm (odd ratio latent complex from proteolytic activation or whether FBN1 functions more directly in controlling assembly or stability of latent TGF-β1 complexes (14).…”

Section: Determination Of Genotypessupporting

confidence: 85%

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

Sepetiene

Patamsytė

Žukovas

et al. 2015

Mol Med

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Section: Determination Of Genotypessupporting

confidence: 85%

“…This is the first report on the association between previously defined FBN1 SNPs (rs2118181 and rs10519177) linked with sporadic thoracic aorta aneurysm and dissection (6) and TGF-β1…”

Section: Discussionmentioning

confidence: 76%

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

Sepetiene

Patamsytė

Žukovas

et al. 2015

Mol Med

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“…It was reported that FN1 is hypoxia responsive in murine and human melanoma cells (Olbryt et al. 2011), and FBN1 is involved in heart disease, such as aortic aneurysm and aortic dissection (Lesauskaite et al. 2015).…”

Section: Resultsmentioning

confidence: 99%

The transcriptomic landscape of yaks reveals molecular pathways for high altitude adaptation

et al. 2018

Genome Biology and Evolution

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Yak is one of the largest native mammalian species at the Himalayas, the highest plateau area in the world with an average elevation of >4,000 m above the sea level. Yak is well adapted to high altitude environment with a set of physiological features for a more efficient blood flow for oxygen delivery under hypobaric hypoxia. Yet, the genetic mechanism underlying its adaptation remains elusive. We conducted a cross-tissue, cross-altitude, and cross-species study to characterize the transcriptomic landscape of domestic yaks. The generated multi-tissue transcriptomic data greatly improved the current yak genome annotation by identifying tens of thousands novel transcripts. We found that among the eight tested tissues (lung, heart, kidney, liver, spleen, muscle, testis, and brain), lung and heart are two key organs showing adaptive transcriptional changes and >90% of the cross-altitude differentially expressed genes in lung display a nonlinear regulation. Pathways related to cell survival and proliferation are enriched, including PI3K-Akt, HIF-1, focal adhesion, and ECM–receptor interaction. These findings, in combination with the comprehensive transcriptome data set, are valuable to understanding the genetic mechanism of hypoxic adaptation in yak.

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“…Among the genes related to arterial tortuosity, we searched for SNPs of genes that were studied in relation to arterial aneurysm and dissection, coronary artery disease, and peripheral artery disease. Of these, the following 4 SNPs were selected: rs2179357 ( SLC2A10 ) [15], rs2118181 ( FBN1 ) [16, 17], rs1036095 ( TGFBR2 ) [18, 19], and rs1800470 ( TGFB1 ) [7, 19]. In addition, 2 more SNPs were chosen, rs112735431 ( RNF213 ) [2, 4, 5, 20] and rs243865 ( MMP2 ) [13] because they have been studied in association with ICAS.…”

Section: Methodsmentioning

confidence: 99%

Are Genetic Variants Associated with the Location of Cerebral Arterial Lesions in Stroke Patients?

Kim

Lee³

et al. 2020

Cerebrovasc Dis

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Background: Genetic variants may play a role in determining the location of cerebral atherosclerosis. We aimed to investigate the association between RNF213, MMP2, and genetic polymorphisms linked to vascular tortuosity with the location of cerebral arterial atherosclerosis. Methods: A prospective case-control study was conducted on patients with ischemic stroke and age-and sex-matched stroke-free controls. The stroke patients were categorized into those with intracranial artery atherosclerosis (ICAS), extracranial artery atherosclerosis (ECAS), and small vessel occlusion (SVO). Six single nucleotide polymorphisms (SNPs) including rs2118181 (FBN1), rs2179357 (SLC2A10), rs1036095 (TGFBR2), rs243865 (MMP2), rs1800470 (TGFB1), and rs112735431 (RNF213) were

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FBN1 polymorphisms in patients with the dilatative pathology of the ascending thoracic aorta

Cited by 15 publications

References 18 publications

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

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

The transcriptomic landscape of yaks reveals molecular pathways for high altitude adaptation

Are Genetic Variants Associated with the Location of Cerebral Arterial Lesions in Stroke Patients?

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