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Schäffler, Andréas; Zeitoun, Martina; Wobser, Hella; Buechler, Christa; Aslanidis, Charalampos; Herfarth, Hans H

doi:10.1186/1475-2840-6-3

Cited by 44 publications

(29 citation statements)

References 19 publications

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“…In our study we did not observe any relationship between rs12409609 and axSpA nor with subclinical atherosclerosis in these patients. Similar results were obtained in inflammatory conditions such as psoriasis, DM or rheumatoid arthritis 23,39,40 . Interestingly, however, we noted that the minor allele of omentin rs12409609 was linked to a reduced mRNA expression of omentin, being this association dose-dependent.…”

Section: Discussionsupporting

confidence: 78%

Omentin: a biomarker of cardiovascular risk in individuals with axial spondyloarthritis

Genre

Rueda-Gotor

Remuzgo‐Martínez

et al. 2020

Sci Rep

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Cardiovascular (CV) disease is the main cause of mortality in axial spondyloarthritis (axSpA). CV risk is enhanced by dysregulation of adipokines. Low omentin levels were associated with metabolic dysfunction and CV disease in conditions different from axSpA. Accordingly, we evaluated the genetic and functional implication of omentin in CV risk and subclinical atherosclerosis in a cohort of 385 axSpA patients. Subclinical atherosclerosis was evaluated by carotid ultrasound. Omentin rs12409609, in linkage disequilibrium with a polymorphism associated with CV risk, was genotyped in 385 patients and 84 controls. Serum omentin levels were also determined. omentin mRNA expression was assessed in a subgroup of individuals. Serum and mRNA omentin levels were lower in axSpA compared to controls. Low serum omentin levels were related to male sex, obesity, inflammatory bowel disease (IBD) and high atherogenic index. rs12409609 minor allele was associated with low omentin mRNA expression in axSpA. No association was observed with subclinical atherosclerosis at the genetic or functional level. In conclusion, in our study low omentin serum levels were associated with CV risk factors in axSpA. Furthermore, rs12409609 minor allele may be downregulating the expression of omentin. these data support a role of omentin as a CV risk biomarker in axSpA. Axial spondyloarthritis (axSpA) is a chronic inflammatory disease that mainly affects the spine and pelvic joints. axSpA patients can also show a broad range of disease manifestations, including arthritis, enthesitis, dactylitis, psoriasis, uveitis and inflammatory bowel disease (IBD), among others. All this substantially affects the patient's quality of life and has important socioeconomic consequences 1. Besides, similarly to other chronic inflammatory rheumatic diseases, axSpA is also associated with a higher incidence of hypertension, obesity, dyslipidemia and smoking habit, which are considered classic risk factors for the development of cardiovascular (CV) disease. Moreover, the inflammatory status present in those patients further enhances their CV risk 2-4. In fact, CV disease is the main leading cause of mortality in patients with axSpA 4. 1 Research group on genetic epidemiology and atherosclerosis in systemic diseases and in metabolic diseases of the musculoskeletal system, IDIVAL, Santander, Spain.

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Section: Discussionsupporting

confidence: 78%

Omentin: a biomarker of cardiovascular risk in individuals with axial spondyloarthritis

Genre

Rueda-Gotor

Remuzgo‐Martínez

et al. 2020

Sci Rep

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“…Interestingly, this SNP was associated with a positive outcome of biologic therapy in the GOIA2 study from a Portuguese CD cohort. 242 However, Shaffer et al 243 did not identify an association of a novel single nucleotide missense polymorphism (Val109Asp) in white patients with IBD in a German cohort. Moreover, an ITLN1 SNP was also associated with increased risk of asthma.…”

Section: Membrane Transportmentioning

confidence: 97%

IBD Candidate Genes and Intestinal Barrier Regulation

McCole

2014

Inflammatory Bowel Diseases

133

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Technological advances in the large scale analysis of human genetics have generated profound insights into possible genetic contributions to chronic diseases including the inflammatory bowel diseases (IBDs), Crohn’s disease and ulcerative colitis. To date, 163 distinct genetic risk loci have been associated with either Crohn’s disease or ulcerative colitis, with a substantial degree of genetic overlap between these 2 conditions. Although many risk variants show a reproducible correlation with disease, individual gene associations only affect a subset of patients, and the functional contribution(s) of these risk variants to the onset of IBD is largely undetermined. Although studies in twins have demonstrated that the development of IBD is not mediated solely by genetic risk, it is nevertheless important to elucidate the functional consequences of risk variants for gene function in relevant cell types known to regulate key physiological processes that are compromised in IBD. This article will discuss IBD candidate genes that are known to be, or are suspected of being, involved in regulating the intestinal epithelial barrier and several of the physiological processes presided over by this dynamic and versatile layer of cells. This will include assembly and regulation of tight junctions, cell adhesion and polarity, mucus and glycoprotein regulation, bacterial sensing, membrane transport, epithelial differentiation, and restitution.

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“…Omentin is a 313-amino acid protein with a molecular mass of 38 Kd [11]. The gene to code its amino acid sequence is located in the 1q22-q23 locus of the first chromosome and comprises 8 exons and seven introns [12]. There exists a polymorphic locus in the position 326 of the fourth exon, where adenine is replaced with thymine (326 G A C → G T C, rs2274907), which entails the replacement of asparagine with valine in the position 109 of ITLN1 (Val109Asp) [12].…”

Section: Introductionmentioning

confidence: 99%

“…At present, the evidence on the association of ITLN1 gene with obesity is very poor, with only very few studies published [12–14]. To our best knowledge, there are no existing publications on the prevalence of genotypes and alleles of ITLN1 gene Val109Asp polymorphic marker in Kyrgyz population, as well as on its association with abdominal obesity (AO) in Kyrgyz adults, whereas AO in its turn is closely linked with cardiovascular complications.…”

Section: Introductionmentioning

confidence: 99%