Polymorphisms of genes related to endothelial cells are associated with primary biliary cirrhosis patients of Cretan origin

Mantaka, Aikaterini; Goulielmos, George N.; Koulentaki, Mairi; Tsagournis, O.; Voumvouraki, Argyro

doi:10.1016/j.humimm.2012.05.003

Cited by 16 publications

(14 citation statements)

References 51 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…A possible explanation is that vascular damage was caused by PBC itself, although it is also possible that the symptoms of Raynaud's phenomenon were too mild to be noticed by these patients. Previous studies have suggested a role of endothelin in decreased antioxidant capacity and impaired vascular endothelial cell function or microcirculation in PBC . The relationships between these factors and finger nail fold capillary abnormalities in PBC patients should be examined in future studies.…”

Section: Discussionmentioning

confidence: 97%

Evaluation of nail fold capillaroscopy findings in patients with primary biliary cirrhosis

Monoe

Takahashi

Abe

et al. 2013

Hepatology Research

View full text Add to dashboard Cite

show abstract

Section: Discussionmentioning

confidence: 97%

Evaluation of nail fold capillaroscopy findings in patients with primary biliary cirrhosis

Monoe

Takahashi

Abe

et al. 2013

Hepatology Research

View full text Add to dashboard Cite

show abstract

“…The cohort of the Cretan RA patients analyzed in the present work is a part of the Hellenic Biologic Registry for Rheumatic Diseases that collects data from all patients who receive biologic agents in 7 Rheumatology Centers of Greece. Considering that independent replication is required to confirm definitively the association of SNPs with response to anti-TNF therapy, we performed the present study focusing on the genetic homogeneous population of Crete, which shares a common genetic and cultural background and a common environment, while it is characterized by good genealogical and clinical records and low migration rates, thus contributing to an increased reliability of the data collected [23–25]. However, our study failed to detect any association between seven SNPs and response to anti-TNF therapy.…”

Section: Discussionmentioning

confidence: 99%

Lack of Association of Variants Previously Associated with Anti-TNF Medication Response in Rheumatoid Arthritis Patients: Results from a Homogeneous Greek Population

et al. 2013

View full text Add to dashboard Cite

Treatment strategies blocking tumor necrosis factor (anti-TNF) have proven very successful in patients with rheumatoid arthritis (RA), showing beneficial effects in approximately 50-60% of the patients. However, a significant subset of patients does not respond to anti-TNF agents, for reasons that are still unknown. The aim of this study was to validate five single nucleotide polymorphisms (SNPs) of PTPRC, CD226, AFF3, MyD88 and CHUK gene loci that have previously been reported to predict anti-TNF outcome. In addition, two markers of RA susceptibility, namely TRAF1/C5 and STAT4 were assessed, in a cohort of anti-TNF–treated RA patients, from the homogeneous Greek island of Crete, Greece. The RA patient cohort consisted of 183 patients treated with either of 3 anti-TNF biologic agents (infliximab, adalimumab and etanercept) from the Clinic of Rheumatology of the University Hospital of Crete. The SNPs were genotyped by TaqMan assays or following the Restriction Fragments Length Polymorphisms (RFLPs) approach. Disease activity score in 28 joints (DAS28) at baseline and after 6 months were available for all patients and analysis of good versus poor response at 6 months was performed for each SNP. None of the 7 genetic markers correlated with treatment response. We conclude that the gene polymorphisms under investigation are not strongly predictive of anti-TNF response in RA patients from Greece.

show abstract

“…In addition we reported that polymorphisms related to endothelial cells were associated with PBC. Both eNOS intron4 VNTR and eNOS exon7 G894T SNP were related to increased risk in PBC while endothelin-1 rs2071942 ''A'' and rs5370 ''T'' alleles had a tendency for association with disease progression [190] . Bile ducts are supplied with blood only from hepatic arteries; the epithelial cells receives blood from a network of capillaries originating from the terminal branches of the hepatic artery.…”

Section: Pathogenesis Of Pbc: a Unifying Hypothesismentioning

confidence: 95%

Primary biliary cirrhosis: From bench to bedside

Notas

2015

WJGPT

View full text Add to dashboard Cite

Primary biliary cirrhosis (PBC) is a chronic nonsuppurative destructive intrahepatic cholangitis leading to cirrhosis after a protractive non cirrhotic stage. The etiology and pathogenesis are largely unknown and autoimmne mechanisms have been implicated to explain the pathological lesions. Many epitopes and autoantigens have been reported as crucial in the pathophysiology of the disease and T and B cells abnormalities have been described, the exact pathways leading to the destruction of small intrahepatic ductules are mostly speculative. In this review we examined the various epidemiologal and geoepidemiological data as well as the complex pathogenetic aspects of this disease, focusing on recent in vivo and in vitro studies in this field. Initiation and progression of PBC is believed to be a multifactorial process with strong infuences from the patient's genetic background and by various environmental factors. The role of innate and adaptive immunity, including cytokines, chemokines, macrophages and the involvement of apoptosis and reactive oxygen species are outlined in detailed. The current pathogenetic aspects are presented and a novel pathogenetic theory unifying the accumulated clinical information with in vitro and in vivo data is formulated.A review of clinical manifestations and immunological and pathological diagnosis was presented. Treatment modalities, including the multiple mechanisms of action of ursodeoxycholate were finally discussed. Core tip: Primary biliary cirrhosis (PBC) is a chronic nonsuppurative destructive intrahepatic cholangitis leading to cirrhosis of largely unknown pathophysiology. We examined the epidemiological and geoepidemiological data as well as the pathogenetic aspects of PBC. A novel pathogenetic theory unifying the accumulated clinical information with in vitro and in vivo data is formulated.

show abstract

Polymorphisms of genes related to endothelial cells are associated with primary biliary cirrhosis patients of Cretan origin

Cited by 16 publications

References 51 publications

Evaluation of nail fold capillaroscopy findings in patients with primary biliary cirrhosis

Evaluation of nail fold capillaroscopy findings in patients with primary biliary cirrhosis

Lack of Association of Variants Previously Associated with Anti-TNF Medication Response in Rheumatoid Arthritis Patients: Results from a Homogeneous Greek Population

Primary biliary cirrhosis: From bench to bedside

Contact Info

Product

Resources

About