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1.  Lack of Association of Variants Previously Associated with Anti-TNF Medication Response in Rheumatoid Arthritis Patients: Results from a Homogeneous Greek Population 
PLoS ONE  2013;8(9):e74375.
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.
PMCID: PMC3769251  PMID: 24040234
2.  Validity of the cohort of Crete in the Seven Countries Study: A time-series study applied to the cancer mortality trend between 1960 and 2011 
Oncology Letters  2013;5(3):964-968.
We examined whether the Cretan cohort of the Seven Countries Study (SCS) is representative for the entire population in the island using cancer mortality registries. The analysis was carried out on the Cretan cohort of the SCS cancer mortality data and a similar cancer registry for the general population during a 51-year follow-up (1960–2011). Information about the causes of mortality was obtained from official death certificates and classified according to the International Classification of Diseases, 9th Revision (ICD-9). Two time-series models of mortalities from cancer, using data from the Cretan cohort and the Hellenic Statistical Office (EL. STAT), were developed using Matlab software. The existence of long-term memory in the data was tested by rescaled range analysis (Hurst-Mandelbrot). State-space reconstruction was applied to identify the simplest system that was able to re-create the present time-series. In the cohort, cancer mortalities accounted for 18.9% of total mortalities. The EL.STAT time-series analysis generated mean V statistics (95%CI) of 0.69815 (0.398–0.999) and 0.677143 (0.301–0.897) for the general population and the seven countries cohort, respectively. The embedding dimension for the EL.STAT data was equal to 1 for the general population and for the Cretan cohort (m=1). The exponent H values for the two time-series were almost equal. In the two time-series the proposed time delay of cancer mortalities was 2. The Cretan cohort of the SCS and the entire population of the island followed similar patterns of cancer mortality over time.
PMCID: PMC3576215  PMID: 23425939
cancer mortality; Seven Countries Study; time-series; rescaled range analysis; state-space reconstruction
3.  Primary Biliary Cirrhosis in a genetically homogeneous population: Disease associations and familial occurrence rates 
BMC Gastroenterology  2012;12:110.
Primary biliary cirrhosis (PBC) is a disease with genetic and environmental pathogenetic background. Chemicals, infectious agents, hormone therapy, reproductive history and surgical interventions have been implicated in the induction of PBC. Familial PBC has been documented in first degree relatives (FDR). Most cohort studies are genetically heterogeneous. Our study aimed to determine eventual lifestyle or disease associations and familial occurrence rates in a genetically homogeneous and geographically defined population of PBC patients.
111 consenting PBC patients, were compared with 115 FDR and 149 controls matched for age, sex, Cretan origin and residence. All participants completed a questionnaire regarding demographics, lifestyle, medical, surgical and reproductive history. Significant variables on the univariate analysis were analyzed by multivariate analysis using a forward step-wise logistic regression model.
Dyslipidaemia was found in 69.4% of patients, 60% of FDR and 40.9% of controls (p < 0.0001 and p = 0.003 respectively), autoimmune diseases in 36.9% of patients, 30.4% of FDR and 13.4% of controls (p < 0.0001 and p = 0.011 respectively). Hashimoto’s disease (p = 0.003), Raynaud syndrome (p = 0.023) and Sjögren syndrome (p = 0.044) were significantly associated with PBC. On multivariate analysis statistically significant associations were found with primary educational level (AOR 2.304, 95% CI 1.024-5.181), cholecystectomy (AOR 2.927, 95% CI 1.347-6.362) and the presence of at least another autoimmune disease (AOR 3.318, 95% CI 1.177-6.22). Cancer history was more frequent in patients than in controls (p = 0.033). Familial PBC was found to be 9.9%.
Dyslipidaemia and autoimmune diseases were significantly increased not only in patients as expected but also in their FDR. An increased prevalence of malignancies was found in patients. Primary educational level, cholecystectomy and the presence of at least another autoimmune disease were found as putative risk factors for PBC. No association was found with smoking, urinary tract infection or reproductive history. The reported high familial occurrence of PBC could imply screening with AMA of FDR with at least another autoimmune disease.
PMCID: PMC3444887  PMID: 22898439
Familial pbc; risk factors; cholecystectomy; dyslipidaemia; cancer; educational level
4.  Arrhythmogenic right ventricular cardiomyopathy/dysplasia on the basis of the revised diagnostic criteria in affected families with desmosomal mutations 
European Heart Journal  2011;32(9):1097-1104.
To evaluate arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) in affected families with desmosome mutations on the basis of the recently revised Task Force Criteria (TFC).
Methods and results
One hundred and three consecutive carriers of pathogenic desmosome mutations and 102 mutation-negative relatives belonging to 22 families with dominant and 14 families with recessive ARVC/D were evaluated according to the original and revised TFC. Serial cardiac assessment with 12-lead, signal-averaged, and 24 h ambulatory ECG and two-dimensional echocardiography was performed. Clinical events and outcome were prospectively analysed up to 24 years (median 4 years). With the revised criteria, 16 carriers were newly diagnosed on the basis of ECG abnormalities in 100%, ventricular arrhythmias in 79%, and functional/structural alterations in 31%, increasing diagnostic sensitivity from 57 to 71% (P = 0.001). Task Force Criteria specificity improved from 92 to 99% (P = 0.016). In dominant mutation carriers, penetrance changed significantly (61 vs. 42%, P = 0.001); no changes were observed in recessive homozygous carriers (97 vs. 97%, P = 1.00). Affected carriers according to the revised TFC (n = 73) had 12-lead ECG abnormalities in 96%, ventricular arrhythmias in 91%, and functional/structural alterations fulfilling echocardiographic criteria in 76%. Cumulative and event-free survival did not differ significantly between dominant and recessive affected carriers, being at 78.6 vs. 76 and 51.7 vs. 55.4%, respectively, by the age of 40 years.
Revised TFC increased diagnostic sensitivity particularly in dominant ARVC/D. Serial family evaluation may rely on electrocardiography which seems to have the best diagnostic utility particularly in early disease that is not detectable by two-dimensional echocardiography.
PMCID: PMC3086899  PMID: 21345848
Cardiomyopathy; Arrhythmogenic right ventricular cardiomyopathy/dysplasia; Diagnostic criteria; Desmosome mutations

Results 1-4 (4)