Patients with eating disorders showed no signs of coeliac disease before and after nutritional intervention.

Aim: This study assessed the presence of specific antibodies for coeliac disease in outpatients suffering from eating disorders before and after nutritional intervention. We also evaluated whether those patients should undergo regular screening for coeliac disease.

Methods: The sample consisted of 154 patients with a mean age of 16.

Resolution of HLA-B*44:02:01G, -DRB1*14:01:01G and -DQB1*03:01:01G reveals a high allelic variability among 12 European populations.

Within the framework of the EU-funded HLA-NET action, an analysis of three G-group alleles, HLA-B*44:02:01G, DRB1*14:01:01G and DQB1*03:01:01G, was undertaken in 12 European populations. Ambiguities were resolved by polymerase chain reaction-sequence-specific amplification (PCR-SSP) or PCR-sequence-based typing (PCR-SBT) in a total of 5095 individuals. The results of the DRB1*14:01/14:54 ambiguity showed high relative ratios (24-53%) of DRB1*14:01 in Bulgarians, Croatians, Greeks, Italians and Slovenians, contrasting with low ratios (6-13%) in Austrians, Finnish, French, Hungarians, Norwegians and Swiss.

Lack of replication of higher genetic risk load in men than in women with systemic lupus erythematosus.

Introduction: We aimed to replicate a recent study which showed higher genetic risk load at 15 loci in men than in women with systemic lupus erythematosus (SLE). This difference was very significant, and it was interpreted as indicating that men require more genetic susceptibility than women to develop SLE.

Methods: Nineteen SLE-associated loci (thirteen of which are shared with the previous study) were analyzed in 1,457 SLE patients and 1,728 healthy controls of European ancestry.

Celiac disease in adult patients: specific autoantibodies in the diagnosis, monitoring, and screening.

The increasing prevalence of celiac disease (CD), especially in adults, its atypical clinical presentation, and the strict, lifelong adherence to gluten-free diet (GFD) as the only option for healthy state create an imperative need for noninvasive methods that can effectively diagnose CD and monitor GFD. Aim. Evaluation of anti-endomysium (EmA) and anti-tissue transglutaminase IgA (tTG-A) antibodies in CD diagnosis, GFD monitoring, and first degree relatives screening in CD adult patients.

16(th) IHIW: analysis of HLA population data, with updated results for 1996 to 2012 workshop data (AHPD project report).

We present here the results of the Analysis of HLA Population Data (AHPD) project of the 16th International HLA and Immunogenetics Workshop (16IHIW) held in Liverpool in May-June 2012. Thanks to the collaboration of 25 laboratories from 18 different countries, HLA genotypic data for 59 new population samples (either well-defined populations or donor registry samples) were gathered and 55 were analysed statistically following HLA-NET recommendations. The new data included, among others, large sets of well-defined populations from north-east Europe and West Asia, as well as many donor registry data from European countries.

Pretreatment serum interleukin-12 levels in predicting sustained virological response among hepatitis C patients following Pegylated Interferon-α2β plus Ribavirin treatment.

Background: Dendritic cells activated by hepatitis C virus (HCV) produce high amounts of interleukin (IL)-12, considered to be associated with HCV clearance. The aim of this study was to investigate the IL-12 levels in HCV-infected patients, before and after the application of combination therapy with Pegylated Interferon-α2β plus Ribavirin.

Methods: Laboratory data of IL-12 levels and other clinical characteristics were selected from 26 HCV-infected patients.

Further evidence of subphenotype association with systemic lupus erythematosus susceptibility loci: a European cases only study.

Introduction: Systemic Lupus Erythematosus (SLE) shows a spectrum of clinical manifestations that complicate its diagnosis, treatment and research. This variability is likely related with environmental exposures and genetic factors among which known SLE susceptibility loci are prime candidates. The first published analyses seem to indicate that this is the case for some of them, but results are still inconclusive and we aimed to further explore this question.

BCR-ABL fusion protein detection in peripheral blood and bone marrow samples of adult precursor B-cell acute lymphoblastic leukemia patients using the flow cytometric immunobead assay.

Background: The ability to detect the BCR-ABL fusion gene in precursor B-cell acute lymphoblastic leukemia (pB-ALL) is essential for making accurate treatment decisions.

Methods: We used a new flow cytometric immunobead assay for BCR-ABL fusion protein detection in peripheral blood and/or bone marrow samples from 38 adult pB-ALL patients and the results were compared with polymerase chain reaction (PCR) detection of BCR-ABL transcript.

Results: The fusion protein was detected in peripheral blood and bone marrow samples from seven of the 38 (18%) patients, and results for both the p190 and p210 were confirmed by PCR.

Bias in effect size of systemic lupus erythematosus susceptibility loci across Europe: a case-control study.

Introduction: We aimed to investigate whether the effect size of the systemic lupus erythematosus (SLE) risk alleles varies across European subpopulations.

Methods: European SLE patients (n = 1,742) and ethnically matched healthy controls (n = 2,101) were recruited at 17 centres from 10 different countries. Only individuals with self-reported ancestry from the country of origin were included.

Strategies to work with HLA data in human populations for histocompatibility, clinical transplantation, epidemiology and population genetics: HLA-NET methodological recommendations.

HLA-NET (a European COST Action) aims at networking researchers working in bone marrow transplantation, epidemiology and population genetics to improve the molecular characterization of the HLA genetic diversity of human populations, with an expected strong impact on both public health and fundamental research. Such improvements involve finding consensual strategies to characterize human populations and samples and report HLA molecular typings and ambiguities; proposing user-friendly access to databases and computer tools and defining minimal requirements related to ethical aspects. The overall outcome is the provision of population genetic characterizations and comparisons in a standard way by all interested laboratories.

HLA-A and HLA-DRB1 amino acid polymorphisms are associated with susceptibility and protection to pulmonary tuberculosis in a Greek population.

Background: Pulmonary tuberculosis remains the single deadliest infectious disease causing high mortality in humans leading to 1.4 million deaths annually. Inherited genetic factors may explain why some people resist infection more successfully than others.

Association of systemic lupus erythematosus clinical features with European population genetic substructure.

Systemic Lupus Erythematosus (SLE) is an autoimmune disease with a very varied spectrum of clinical manifestations that could be partly determined by genetic factors. We aimed to determine the relationship between prevalence of 11 clinical features and age of disease onset with European population genetic substructure. Data from 1413 patients of European ancestry recruited in nine countries was tested for association with genotypes of top ancestry informative markers.

Antineutrophil cytoplasmic antibodies testing in a large cohort of unselected greek patients.

Objective. To retrospectively evaluate ANCA testing in a cohort of unselected Greek in- and outpatients. Methods.

Analysis of the HLA population data (AHPD) submitted to the 15th International Histocompatibility/Immunogenetics Workshop by using the Gene[rate] computer tools accommodating ambiguous data (AHPD project report).

During the 15th International Histocompatibility and Immunogenetics Workshop (IHIWS), 14 human leukocyte antigen (HLA) laboratories participated in the Analysis of HLA Population Data (AHPD) project where 18 new population samples were analyzed statistically and compared with data available from previous workshops. To that aim, an original methodology was developed and used (i) to estimate frequencies by taking into account ambiguous genotypic data, (ii) to test for Hardy-Weinberg equilibrium (HWE) by using a nested likelihood ratio test involving a parameter accounting for HWE deviations, (iii) to test for selective neutrality by using a resampling algorithm, and (iv) to provide explicit graphical representations including allele frequencies and basic statistics for each series of data. A total of 66 data series (1-7 loci per population) were analyzed with this standard approach.

Low prevalence of antibodies to cyclic citrullinated peptide in patients with inflammatory bowel disease regardless of the presence of arthritis.

Objectives: Crohn's disease (CD) and ulcerative colitis are chronic idiopathic inflammatory bowel diseases (IBD) often associated with axial and/or peripheral arthritis. Antibodies against cyclic citrullinated peptide (anti-CCP) are highly specific for rheumatoid arthritis, whereas their role in IBD remains unclear. Antitumour necrosis factor-alpha agents such as infliximab (IFX) may achieve and maintain remission of both IBD and rheumatoid arthritis; however, they may also trigger the development of various autoantibodies and autoimmune manifestations.

Replication of recently identified systemic lupus erythematosus genetic associations: a case-control study.

Introduction: We aimed to replicate association of newly identified systemic lupus erythematosus (SLE) loci.

Methods: We selected the most associated SNP in 10 SLE loci. These 10 SNPs were analysed in 1,579 patients with SLE and 1,726 controls of European origin by single-base extension.

Distinct neutrophil subpopulations phenotype by flow cytometry in myelodysplastic syndromes.

The cardinal feature of myelodysplastic syndromes (MDS) is dysplasia involving one or more myeloid cell lineages. In the present study, we used 4-color flow cytometric analysis to investigate dysgranulopoiesis in bone marrow specimens from 65 patients with MDS. The antigen expression patterns of total neutrophil granulocytes (TNG) and of the two distinct neutrophil granulocytic subpopulations (NGSs), NGS-1 (dimmer CD45 expression) and NGS-2 (stronger CD45 expression) identified on the side scatter (SS) vs.

Visfatin, TNF-alpha and IL-6 mRNA expression is increased in mononuclear cells from type 2 diabetic women.

Visfatin, is a new adipokine, highly expressed in the visceral fat of both mice and humans. To examine whether visfatin is expressed in human peripheral monocyte-enriched mononuclear cells and whether its expression is altered in type 2 diabetes (DM2), we compared 24 DM2 women [17 overweight (BMI >25) and 7 lean (BMI<25)] to 26 healthy women (14 overweight and 12 lean), all premenopausal. Relative visfatin mRNA levels were significantly higher (approximately 3-fold) in DM2 compared to healthy control women (p<0.

Opposed independent effects and epistasis in the complex association of IRF5 to SLE.

Genetic variation in the interferon regulatory factor 5 (IRF5) gene affects systemic lupus erythematosus (SLE) susceptibility. However, association is complex and incompletely defined. We obtained fourteen European sample collections with a total of 1383 SLE patients and 1614 controls to better define the role of the different IRF5 variants.

HLA alleles as predisposal factors for postmenopausal osteoporosis in a Greek population.

It is well established that genetic factors play an important role in the pathogenesis of osteoporosis, a common condition characterized by reduced bone mass and increased fracture risk. The major histocompatibility complex in humans, known as human leukocyte antigen (HLA) region, is the most polymorphic human genetic system and it is known as a cluster of genetic markers, associated with several diseases. In order to evaluate the contribution of HLA alleles in bone mass loss, polymorphisms in the HLA class I (-A, -B and -Cw) and class II (-DR and -DQ) antigens were studied in 126 postmenopausal women of Greek origin.

Neutrophil CD64 expression and serum IL-8: sensitive early markers of severity and outcome in sepsis.

The aim of the present study was to investigate which biomarker/s reliably assess severity and mortality early in the sepsis process. In 47 critically-ill patients within the 24h of septic onset, Interleukins (IL)-8, -1beta, -6, -10, and -12p70, tumor necrosis factor-alpha (TNF-alpha), procalcitonin (PCT) and C-reactive protein (CRP) were measured in serum. Additionally, CD64 expression was measured in neutrophils.

Bias in association studies of systemic lupus erythematosus susceptibility due to geographical variation in the frequency of a programmed cell death 1 polymorphism across Europe.

We obtained eight collections of DNA samples from ethnically matched systemic lupus erythematosus (SLE) patients and controls from five European countries totaling 783 patients and 1210 controls. A highly significant cline in the frequency of the PD1.3 A allele was found among controls but not among SLE patients.

Systemic lupus erythematosus in Europe at the change of the millennium: lessons from the "Euro-Lupus Project".

The "Euro-Lupus Cohort" is composed by 1000 patients with systemic lupus erythematosus (SLE) that have been followed prospectively since 1991. These patients have been gathered by a European consortium--the "Euro-Lupus Project Group". This consortium was originated as part of the network promoted by the "European Working Party on SLE", a working group created in 1990 in order to promote research in Europe on the different problems related to this disease.

HLA-G in murine peripheral blood after interruption of pregnancy.

HLA-G antigens are highly expressed in maternal peripheral blood during early pregnancy in transgenic mice. In this study, we determined the levels of HLA-G in white blood cells during early pregnancy and after interruption of pregnancy in triple transgenic mice (H-2K(b)/HLA-G, hbeta2m, and hCD2/hCD8-TRI). The pregnancies were interrupted on day 7 using the anti-progesterone agent mifepristone (RU486).

HLA antigens as predictors of disease progression in HIV-infected haemophilia patients (a 22 years' follow up).

Our objective was to assess the influence of genetic factors such as HLA classes I and II antigens and other clinical and laboratory variables on the progression of HIV disease in a cohort of 118 HIV infected haemophilic subjects of Greek origin who had been typed for HLA antigens and were followed up prospectively for 22 years since seroconversion. At the end of the follow up we compared two groups of patients: 22 patients who had a fast progression to AIDS (median 6 years since seroconversion) vs. 33 patients who remained asymptomatic in stage A2 for up to 22 years (median 15 years).