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1.
J Cancer Policy ; 39: 100464, 2024 Mar.
Article in English | MEDLINE | ID: mdl-38104712

ABSTRACT

BACKGROUND: Implementation of organized cancer screening programs comes with many challenges and barriers, which may inhibit the achievement of the screening activities' desired benefits. In this paper we outline a plan for improving the colorectal cancer (CRC) screening system in Montenegro. METHODS: We formulated a roadmap, which was generally defined as a country-specific strategic plan to improve cancer screening programs. The roadmap development was an iterative, step-by-step process. First, we described the current screening program, then identified and described key barriers, and finally proposed actions to overcome them. Multiple sources of information (e.g., documents, expert opinions) were collected and processed by local and international stakeholders. RESULTS: The CRC screening program was implemented between 2013-2019 by gradually increasing the invitation of the target population. Key barriers of the implementation were defined: 1) Lack of colonoscopy capacity in the northern part of the country; 2) Inadequate information technology systems; 3) Inadequate public promotion of screening. The defined actions were related to overcoming lack of available resources (e.g., financial, human and technological), to improve the policy environment and the knowledge, and to facilitate information sharing. CONCLUSION: The collaboration between local stakeholders of CRC screening and researchers experienced in planning and evaluating screening programs resulted in the first comprehensive description of CRC screening in Montenegro, detailed understanding of key barriers that emerged during implementation and a carefully designed list of actions. The implementation of these actions and the evaluation of whether barriers were solved will be captured in the upcoming period by maintaining this collaboration.


Subject(s)
Colorectal Neoplasms , Early Detection of Cancer , Humans , Montenegro , Early Detection of Cancer/methods , Colorectal Neoplasms/diagnosis , Colonoscopy , Health Services Needs and Demand
2.
Orv Hetil ; 163(49): 1943-1951, 2022 Dec 04.
Article in Hungarian | MEDLINE | ID: mdl-36463551

ABSTRACT

INTRODUCTION: In Eastern and Central Europe, Hungary has the third highest incidence of melanoma after the Czech Republic and Slovakia. In order to improve the efficiency of melanoma diagnostics and screening, several technological developments have been made in recent years, one is the integrated automated total body mapping and digital dermatoscopy. OBJECTIVE: The aim of this targeted literature review is to demonstrate the potential of new digital technologies developed for total body mapping in relation to melanoma screening. METHOD: Targeted literature review was performed to collect information. We searched in publicly available databases for guidelines and recommendations as well as scientific publications on screening and early detection of melanoma. RESULTS: We identified 15 international guidelines and recommendations summarizing screening and early detection of melanoma. We did not find any Hungarian guidelines on melanoma screening. We analyzed 2 clinical, 5 observational studies and 8 systematic reviews on the effectiveness of digital dermatoscopy and automated total body mapping. We found 10 studies that investigated the complementary role of machine learning algorithms in the early diagnosis of melanoma. DISCUSSION: Digital dermatoscopy and total body mapping can help identify skin malignancies or new melanoma at high-risk individuals. Due to the lack of reliable data of melanoma screening programmes on cancer mortality, population-based melanoma screening is not recommended by international guidelines. CONCLUSION: International guidelines highlight the role of automated total body mapping and sequential digital dermatoscopic imaging in screening of individuals at increased risk of melanoma. Orv Hetil. 2022; 163(49): 1943-1951.


Subject(s)
Melanoma , Skin Neoplasms , Humans , Digital Technology , Melanoma/diagnostic imaging , Skin Neoplasms/diagnostic imaging , Databases, Factual , Algorithms
3.
Orv Hetil ; 163(37): 1464-1471, 2022 Sep 11.
Article in Hungarian | MEDLINE | ID: mdl-36088623

ABSTRACT

Introduction: Lung cancer is a serious public health problem in Hungary, but currently there is no nationwide screening program for the early detection of the disease. Several technological developments have been carried out recently to improve the effectiveness of lung cancer screening. Low-dose computed tomography (LDCT) is one of these technologies. Objective: The objective of this study is to provide an overview on guidelines and recommendations related to the application of LDCT as a novel lung cancer screening modality and to summarize the scientific literature and screening practices of other countries. Method: We performed a targeted literature review to collect information about LDCT in lung cancer screening. We searched in publicly available databases for guidelines and recommendations as well as scientific publications on screening and early detection of lung cancer. Results: In our literature search, we identified 16 guidelines and recommendations for lung cancer screening and LDCT. Regarding the efficacy of LDCT lung cancer screening, 10 foreign randomized controlled trials and 2 Hungarian trials were reviewed. Information on screening practices of 10 European countries were identified. Discussion: Evidences suggest that LDCT screening improves the detection of lung cancer, especially at early stages, and reduces cancer-specific mortality. Conclusion: In summary, in the high-risk population, LDCT can be considered an effective screening modality for the early-stage detection of lung cancer and for reducing lung cancer mortality. The ongoing Hungarian and foreign pilot programs may provide futher evidence for the implementation of a nationwide LDCT lung cancer screening program.


Subject(s)
Early Detection of Cancer , Lung Neoplasms , Early Detection of Cancer/methods , Humans , Lung Neoplasms/diagnostic imaging , Lung Neoplasms/epidemiology , Mass Screening/methods , Risk Factors , Tomography, X-Ray Computed/methods
4.
Orv Hetil ; 163(35): 1374-1382, 2022 Aug 28.
Article in Hungarian | MEDLINE | ID: mdl-36030424

ABSTRACT

Several technological developments have been carried out recently to improve the effectiveness of breast cancer screening. Most of them have emerged as a complementary method to mammography. Automated breast ultrasound is one of these technologies. The objective of this study is to provide an overview on guidelines and recommenda-tions related to the application of automated breast ultrasound as a screening modality and to summarize the scien-tific literature. Targeted literature review was performed to collect information. We searched in publicly available databases for guidelines and recommendations as well as scientific publications on screening and early detection. We found substantial amount of information about automated breast ultrasound mainly for patients with dense breast; however, breast cancer screening guidelines have not yet incorporated this technology. 9 clinical studies were in-cluded in the review, most of them were single-arm studies with relatively short follow-up time. Most of them were performed in the USA. Results were presented mainly for short-term outcomes of breast cancer screening: sensitiv-ity, specificity, tumor detection rate and recall rate. The opportunity for retrospective evaluation of the images and the reproducibility are considered the most important advantages. Evidence suggest that the cancer detection rate can be improved compared to mammography alone in women with dense breast. The main disadvantages of this technology are the high recall and false positive rates. Further scientific evidence is required to reduce uncertainty related to the use of automated breast ultrasound for breast cancer screening.


Subject(s)
Breast Neoplasms , Mammography , Breast Density , Early Detection of Cancer , Female , Humans , Mass Screening , Reproducibility of Results , Retrospective Studies
5.
Front Public Health ; 10: 1071317, 2022.
Article in English | MEDLINE | ID: mdl-36684917

ABSTRACT

Introduction: The sensitivity of mammography screening is lower in women with dense breast. Increasing the efficacy of breast cancer screening have received special attention recently. The automated breast ultrasound (ABUS) shows promising results to complement mammography. Our aim was to expand the existing breast cancer screening protocol with ABUS within a Hungarian pilot project. Methods: First, we developed a protocol for the screening process focusing on integrating ABUS to the current practice. Consensus among clinical experts was achieved considering information from the literature and the actual opportunities of the hospital. Then we developed a protocol for evaluation that ensures systematic data collection and monitoring of screening with mammography and ABUS. We identified indicators based on international standards and adapted them to local setting. We considered their feasibility from the data source and timeframe perspective. The protocol was developed in a partnership of researchers, clinicians and hospital managers. Results: The process of screening activity was described in a detailed flowchart. Human and technological resource requirements and communication activities were defined. We listed 23 monitoring indicators to evaluate the screening program and checked the feasibility to calculate these indicators based on local data collection and other sources. Partnership between researchers experienced in planning and evaluating screening programs, interested clinicians, and hospital managers resulted in a locally implementable, evidence-based screening protocol. Discussion: The experience and knowledge gained on the implementation of the ABUS technology could generate real-world data to support the decision on using the technology at national level.


Subject(s)
Breast Neoplasms , Female , Humans , Breast Neoplasms/diagnostic imaging , Mammography/methods , Breast Density , Pilot Projects , Early Detection of Cancer/methods , Ultrasonography, Mammary/methods
6.
Prev Med Rep ; 22: 101392, 2021 Jun.
Article in English | MEDLINE | ID: mdl-34026466

ABSTRACT

BACKGROUND: Aiming to support European countries in improving their breast, cervical, and colorectal cancer (CRC) screening programmes, the EU-TOPIA consortium has developed an online user-friendly tool (the EU-TOPIA evaluation tool; https://miscan.eu-topia.org) based on the Microsimulation Screening Analysis (MISCAN) model. METHODS: We designed an online platform that allows stakeholders to use their country-specific data (demographic, epidemiological, and cancer screening information) to quantify future harms and benefits of different cancer screening scenarios in their country. Current cancer screening programmes and impacts of potential changes in screening protocols (such as extending target ages or increasing screening attendance) can be simulated. Results are scaled to the country-specific population. To illustrate the tool, we used the tool to simulate two different CRC screening scenarios in the Netherlands: biennial fecal immunochemical testing (FIT) in ages 55-75 and colonoscopy every ten years in ages 55-75. Data from the Dutch screening programme was used to inform both scenarios. RESULTS: A total of 482,700 CRC cases and 178,000 CRC deaths were estimated in the Netherlands with FIT screening (for individuals aged 40-100 years, 2018-2050), with 47.3 million FITs performed (1.92 million positives of which 1.64 million adhered to diagnostic colonoscopy). With colonoscopy screening, CRC incidence and mortality were, respectively, up to 17% and 14% lower than in the current FIT screening programme, requiring, however, a colonoscopy demand that was 7-fold higher. CONCLUSIONS: Our study presents an essential online tool for stakeholders and medical societies to quantify estimates of benefits and harms of early cancer detection in Europe.

7.
MDM Policy Pract ; 6(1): 2381468320984974, 2021.
Article in English | MEDLINE | ID: mdl-33598546

ABSTRACT

Background. Validated microsimulation models have been shown to be useful tools in providing support for colorectal cancer (CRC) screening decisions. Aiming to assist European countries in reducing CRC mortality, we developed and validated three regional models for evaluating CRC screening in Europe. Methods. Microsimulation Screening Analysis-Colon (MISCAN-Colon) model versions for Italy, Slovenia, and Finland were quantified using data from different national institutions. These models were validated against the best available evidence for the effectiveness of screening from their region (when available): the Screening for COlon REctum (SCORE) trial and the Florentine fecal immunochemical test (FIT) screening study for Italy; the Norwegian Colorectal Cancer Prevention (NORCCAP) trial and the guaiac fecal occult blood test (gFOBT) Finnish population-based study for Finland. When published evidence was not available (Slovenia), the model was validated using cancer registry data. Results. Our three models reproduced age-specific CRC incidence rates and stage distributions in the prescreening period. Moreover, the Italian and Finnish models replicated CRC mortality reductions (reasonably) well against the best available evidence. CRC mortality reductions were predicted slightly larger than those observed (except for the Florentine FIT study), but consistently within the corresponding 95% confidence intervals. Conclusions. Our findings corroborate the MISCAN-Colon reliability in supporting decision making on CRC screening. Furthermore, our study provides the model structure for an additional tool (EU-TOPIA CRC evaluation tool: http://miscan.eu-topia.org) that aims to help policymakers and researchers monitoring or improving CRC screening in Europe.

8.
J Med Screen ; 28(3): 268-276, 2021 09.
Article in English | MEDLINE | ID: mdl-33153369

ABSTRACT

OBJECTIVE: The national population-based colorectal cancer screening programme in Hungary was initiated in December 2018. We aimed to evaluate the current programme and investigate the costs and benefits of potential future changes to overcome the low coverage of the target population. METHODS: We performed an economic evaluation from a healthcare payer perspective using an established micro-simulation model (Microsimulation Screening Analysis-Colon). We simulated costs and benefits of screening with fecal immunochemical test in the Hungarian population aged 50-100, investigating also the impact of potential future scenarios which were assumed to increase invitation coverage: improvement of the IT platform currently used by GPs or distributing the tests through pharmacies instead of GPs. RESULTS: The model predicted that the current screening programme could lead to 6.2% colorectal cancer mortality reduction between 2018 and 2050 compared to no screening. Even higher reductions, up to 16.6%, were estimated when tests were distributed through pharmacies and higher coverage was assumed. This change in the programme was estimated to require up to 26 million performed fecal immunochemical tests and 1 million colonoscopies for the simulated period. These future scenarios have acceptable cost-benefit ratios of €8000-€8700 per life-years gained depending on the assumed adherence of invited individuals. CONCLUSIONS: With its limitations, the current colorectal cancer screening programme in Hungary will have a modest impact on colorectal cancer mortality. Significant improvements in mortality reduction could be made at acceptable costs, if the tests were to be distributed by pharmacies allowing the entire target population to be invited.


Subject(s)
Colorectal Neoplasms , Early Detection of Cancer , Colonoscopy , Colorectal Neoplasms/diagnosis , Cost-Benefit Analysis , Humans , Hungary , Mass Screening , Occult Blood
10.
Health Policy ; 122(11): 1190-1197, 2018 Nov.
Article in English | MEDLINE | ID: mdl-30177278

ABSTRACT

The aim of this study was to identify barriers to effective breast, cervical and colorectal cancer screening programmes throughout the whole of the European region using the Barriers to Effective Screening Tool (BEST). The study was part of the scope of the EU-TOPIA (TOwards imProved screening for breast, cervical and colorectal cancer In All of Europe) project and respondents were European screening organisers, researchers and policymakers taking part in a workshop for the project in Budapest in September 2017. 67 respondents from 31 countries responded to the online survey. The study found that there are many barriers to effective screening throughout the system from identification of the eligible population to ensuring appropriate follow-up and treatment for the three cancers. The most common barriers were opportunistic screening, sub-optimal participation, limited capacity (including trained human resource), inadequate and/or disjointed information technology systems and complex administration procedures. Many of the barriers were reported consistently across different countries. This study identified the barriers that, in general, require further investment of resources.


Subject(s)
Breast Neoplasms/diagnosis , Colorectal Neoplasms/diagnosis , Delivery of Health Care/methods , Early Detection of Cancer , Mass Screening/methods , Surveys and Questionnaires , Uterine Cervical Neoplasms/diagnosis , Europe , Female , Humans , Internet
11.
J Renin Angiotensin Aldosterone Syst ; 12(4): 531-8, 2011 Dec.
Article in English | MEDLINE | ID: mdl-21330420

ABSTRACT

The aim of our study was to evaluate whether any association exists between metabolic syndrome (MS) and ACE I/D and AGT M235T gene polymorphisms in Hungarians as an example of European Caucasian population. Study subjects of our cross-sectional study were recruited from the Hungarian General Practitioners' Morbidity Sentinel Stations Program. The study population (n = 1762) approximates very well the age and sex distribution of the general Hungarian population. MS was defined according to the latest diagnostic criteria proposed by the International Diabetes Federation. The frequency of DD genotype (31.36% vs. 25.42%, p = 0.006) and the frequency of D allele (0.56 vs. 0.51, p = 0.006) were significantly higher in the metabolic group than in the non-metabolic group. The distribution of the AGT M235T polymorphism was similar in each group investigated. Association was shown in the case of patients in whom central obesity was combined with elevated TG and low HDL cholesterol level (p = 0.024 and p = 0.022). It suggests that ACE I/D polymorphism is likely to be involved in lipid metabolism.


Subject(s)
Genetic Predisposition to Disease , INDEL Mutation/genetics , Metabolic Syndrome/enzymology , Metabolic Syndrome/genetics , Peptidyl-Dipeptidase A/genetics , Polymorphism, Genetic , Adult , Aged , Alleles , Female , Humans , Hungary , Male , Middle Aged , Young Adult
12.
Eur J Public Health ; 21(5): 662-6, 2011 Oct.
Article in English | MEDLINE | ID: mdl-20551046

ABSTRACT

BACKGROUND: Hungary has among the highest mortality rates from chronic liver disease (CLD) and cirrhosis in Europe. Usually, conventional behavioural factors are hypothesized as the cause of the high risk of CLD. METHODS: A case-control study was performed with 287 cases and 892 controls to study the relationship between socio-economic and behavioural factors and the risk of CLD. Liver disease was verified by physical examination and blood tests. Blood samples were collected for detecting hepatitis B, C and E virus infection. Information on exposure factors was recorded by the participating physicians and by self-administered questionnaire. Simple regression analysis was used to study the relationship between CLD/cirrhosis and potential risk factors as alcohol intake (amount and source), problem drinking, cigarette smoking, physical activity, viral hepatitis infections, socio-economic factors (education, financial and marital status). Multiple regression analysis was used to identify whether the effect of socio-economic factors is fully mediated by health behaviour (smoking, alcohol consumption, physical activity). RESULTS: The univariate analysis showed that heavy alcohol consumption, problem drinking, former and heavy cigarette smoking, single, separated or divorced marital status, bad or very bad perceived financial status and lower education significantly increased the risk of CLD/cirrhosis. The effect of marital status and of education did not change after adjustment for behavioural factors, but the effect of perceived financial status disappeared. CONCLUSIONS: The effect of low socio-economic status on the risk of CLD/cirrhosis is only partially explained by conventional behavioural risk factors in Hungary.


Subject(s)
Educational Status , Health Behavior , Liver Diseases/epidemiology , Alcohol Drinking , Case-Control Studies , Chronic Disease , Exercise , Hepatitis B/complications , Hepatitis B/epidemiology , Hepatitis E/complications , Hepatitis E/epidemiology , Humans , Hungary/epidemiology , Liver Cirrhosis/complications , Liver Cirrhosis/epidemiology , Liver Diseases/complications , Male , Marital Status , Middle Aged , Prevalence , Risk Factors , Smoking , Socioeconomic Factors , Surveys and Questionnaires
13.
Croat Med J ; 51(2): 151-6, 2010 Apr.
Article in English | MEDLINE | ID: mdl-20401958

ABSTRACT

AIM: To obtain correct evaluation of the prevalence rate of diabetes mellitus and impaired fasting glycemia (IFG) in Hungary. METHOD: The study was performed on a nationally representative sample covered by the Hungarian General Practitioners' Morbidity Sentinel Stations Program. The source population consisted of all persons aged 20-69 years who were registered with the participating centers. The prevalence rates were adjusted to age and sex distribution of the total Hungarian population. Fasting blood samples of 1803 participants were evaluated. Response rate was 90.7%. RESULTS: In addition to 130 (7.21%) patients with established diabetes, 26 participants with newly diagnosed diabetes were found, resulting in a total crude diabetes prevalence of 8.65% (men: 11.16%; women: 6.41%; P<0.001). After weighting for age and sex, the prevalence rate of diabetes in participants aged 20-69 years should be set at 7.47% (95% confidence interval [CI], 6.26-8.69) (men: 9.49%; 95% CI, 7.52-11.46; women: 5.58%; 95% CI, 4.12-7.04). In addition to 41 (2.27%) patients with established IFG (fasting blood glucose: 6.1-6.9 mmol/L), 47 participants with newly diagnosed IFG were found, resulting in a total crude IFG prevalence of 4.88% (men: 6.11%; women: 3.78%; P=0.022). After making corrections for weighting age and sex, the total IFG prevalence rate in participants aged 20-69 years should be set at 4.39% (95% CI, 3.44-5.34) (men: 5.52%; 95% CI, 3.99-7.06; women: 3.33%; 95% CI, 2.19-4.47). CONCLUSION: The prevalence rate of diabetes and IFG in Hungary is higher than previously estimated by experts and authorities. The present data may serve as a base for comparative investigations in the future.


Subject(s)
Diabetes Mellitus/epidemiology , Glucose Intolerance/epidemiology , Metabolic Syndrome/epidemiology , Adult , Age Distribution , Aged , Cross-Sectional Studies , Female , Humans , Hungary/epidemiology , Male , Middle Aged , Prevalence , Sex Distribution
14.
Addiction ; 105(5): 891-6, 2010 May.
Article in English | MEDLINE | ID: mdl-20219057

ABSTRACT

BACKGROUND: Standardized death rates from chronic liver diseases (CLDs) in Hungary are much higher than the European Union average. Carrying the alcohol dehydrogenase 1B 48His allele (rs1229984 or ADH1B*2) could decrease the risk of alcoholism, but with persistent drinking may confer a greater risk of CLDs. The aim of this study was to assess the prevalence of this polymorphism in the Hungarian population and its association with alcohol consumption and with CLDs. METHODS AND RESULTS: A total of 278 cases with diagnosed CLDs and 752 controls without any alterations in liver function, all males aged 45-64, were screened for ADH1B Arg48His polymorphism. ADH1B*2 allele frequencies in controls and cases were 8.31% and 4.50%, respectively (chi(2) = 9.2; P = 0.01). Carrying the ADH1B*2 allele was associated with significantly lower odds ratio (OR) for drinking frequency (OR = 0.63; P = 0.003), the number of positive answers on CAGE (Cut-down, Annoyed, Guilt, Eye-opener) assessment (OR = 0.58; P = 0.005) and a positive CAGE status (OR = 0.55; P = 0.007). There was a significant association between ADH1B*2 and CLDs (OR = 0.50; P = 0.003), but it disappeared after adjusting for CAGE status and scores (OR = 0.67 P = 0.134; OR = 0.67 P = 0.148, respectively) and weakened after adjusting for drinking frequency (OR = 0.61; P = 0.045). Among heavy drinkers the presence of ADH1B*2 did not increase the risk of cirrhosis but there was a significant interaction between genotype and CAGE status (P = 0.003, P = 0.042), with ADH1B*2 conferring reduced risk of CLDs in CAGE negatives. CONCLUSION: In Hungarians, the ADH1B 48His allele reduces the risk of alcoholism, but not the risk of chronic liver disease among heavy drinkers.


Subject(s)
Alcohol Dehydrogenase/genetics , Alcoholism/genetics , Alleles , Liver Diseases/genetics , Alcoholism/mortality , Chronic Disease , Epidemiologic Methods , Genotype , Humans , Hungary/epidemiology , Liver Diseases/mortality , Male , Middle Aged , Polymorphism, Genetic
15.
Nephron Clin Pract ; 113(1): c46-53, 2009.
Article in English | MEDLINE | ID: mdl-19602899

ABSTRACT

BACKGROUND: Human serum paraoxonase-1 (PON1) is a high-density lipoprotein-associated ester hydrolase which can inhibit low-density lipoprotein oxidation and has an antiatherogenic effect. Two common polymorphisms are known in the PON1 gene in humans (at positions 55 and 192), from which the latter gene alteration has been mainly attributed to alter the activity of the protein. Moreover, significantly reduced PON1 activity was found in chronic kidney disease (CKD) and renal transplant patients. METHODS: The aim of the present study was to investigate the genotype and phenotype distribution of the PON1 gene as well as its end product activity in patients with CKD (n = 117), in renal transplant recipients (n = 146) and in reference subjects (n = 1,180). RESULTS: Unexpectedly high discordances between phenotype and genotype assessments were observed in all studied groups (28.2% in the CKD, 20.55% in the transplant and 30.9% in the reference group). Arylesterase activity was significantly lower in the CKD group compared to the reference sample. There were no significant differences between patients and the reference group in the frequencies of polymorphisms PON1-55 and PON1-192. PON1 activity did not differ in patients compared to the reference group. CONCLUSIONS: Both PON1 phenotype and genotype determinations are necessary to estimate PON1 status.


Subject(s)
Aryldialkylphosphatase/genetics , Kidney Diseases/genetics , Kidney Transplantation , Adult , Aged , Apolipoprotein A-I/blood , Apolipoproteins B/blood , Aryldialkylphosphatase/blood , Carboxylic Ester Hydrolases/blood , Chronic Disease , Creatinine/blood , Female , Genotype , Humans , Kidney Diseases/blood , Kidney Diseases/enzymology , Lipids/blood , Male , Middle Aged , Phenotype , Polymorphism, Single Nucleotide , Reference Values , Urea/blood , Young Adult
16.
Immunogenetics ; 61(4): 247-56, 2009 Apr.
Article in English | MEDLINE | ID: mdl-19255754

ABSTRACT

Human leukocyte antigen (HLA) genes, located on chromosome 6p21.3, have a crucial role in susceptibility to various autoimmune and inflammatory diseases, such as celiac disease and type 1 diabetes. Certain HLA heterodimers, namely DQ2 (encoded by the DQA1*05 and DQB1*02 alleles) and DQ8 (DQA1*03 and DQB1*0302), are necessary for the development of celiac disease. Traditional genotyping of HLA genes is laborious, time-consuming, and expensive. A novel HLA-genotyping method, using six HLA-tagging single-nucleotide polymorphisms (SNPs) and suitable for high-throughput approaches, was described recently. Our aim was to validate this method in the Finnish, Hungarian, and Italian populations. The six previously reported HLA-tagging SNPs were genotyped in patients with celiac disease and in healthy individuals from Finland, Hungary, and two distinct regions of Italy. The potential of this method was evaluated in analyzing how well the tag SNP results correlate with the HLA genotypes previously determined using traditional HLA-typing methods. Using the tagging SNP method, it is possible to determine the celiac disease risk haplotypes accurately in Finnish, Hungarian, and Italian populations, with specificity and sensitivity ranging from 95% to 100%. In addition, it predicts homozygosity and heterozygosity for a risk haplotype, allowing studies on genotypic risk effects. The method is transferable between populations and therefore suited for large-scale research studies and screening of celiac disease among high-risk individuals or at the population level.


Subject(s)
Celiac Disease/genetics , Genetic Testing/methods , HLA Antigens/genetics , Polymorphism, Single Nucleotide , Celiac Disease/immunology , Genetic Testing/economics , Haplotypes , Humans
17.
BMC Med Genet ; 10: 8, 2009 Jan 28.
Article in English | MEDLINE | ID: mdl-19175939

ABSTRACT

BACKGROUND: Association of the interleukin-23 receptor (IL23R) with inflammatory bowel disease (IBD) has been confirmed in several populations. IL23R also associates with psoriasis, suggesting that the gene may be an important candidate for many chronic inflammatory diseases. METHODS: We studied association of single-nucleotide variants in IL23R with IBD in Swedish patients, in both Crohn's disease (CD) and ulcerative colitis (UC) subsets. The same genetic variants were also studied in Finnish patients with psoriasis or celiac disease, and in Hungarian and Italian patients with celiac disease. RESULTS: Association of IL23R with IBD was replicated in our Swedish patients, and linkage and association of the IL23R region with psoriasis was found in the Finnish population. The IL23R region was also linked to celiac disease in Finnish families, but no association of IL23R variants with celiac disease was found in the Finnish, Hungarian or Italian samples. CONCLUSION: Our study is the first to demonstrate association of IL23R with CD and UC in Swedish patients with IBD. It is also the first study to report linkage and association of the IL23R region with psoriasis in the Finnish population. Importantly, this is the first report of linkage of the IL23R region to celiac disease, a chronic inflammatory condition in which IL23R has not been previously implicated.


Subject(s)
Celiac Disease/genetics , Colitis, Ulcerative/genetics , Crohn Disease/genetics , Psoriasis/genetics , Receptors, Interleukin/genetics , Case-Control Studies , Celiac Disease/complications , Colitis, Ulcerative/complications , Crohn Disease/complications , Finland , Genetic Markers , Genetic Predisposition to Disease , Genotype , Haplotypes , Humans , Hungary , Italy , Linkage Disequilibrium , Psoriasis/complications , Sweden
18.
Hum Mol Genet ; 18(6): 1148-55, 2009 Mar 15.
Article in English | MEDLINE | ID: mdl-19103669

ABSTRACT

Coeliac disease is caused by dietary gluten, triggering a chronic inflammation of the small intestine in genetically predisposed individuals. Recently, a risk locus on chromosome 2q11-q12, harbouring interleukin 18 receptor accessory protein (IL18RAP) and three other genes, was suggested for coeliac disease. IL18 has been shown to play an important role in T helper type 1 activity in coeliac disease, making this locus a highly interesting candidate. In this study, two previously indicated risk variants at the IL18RAP locus (rs13015714 and rs917997) were tested for genetic association in 1638 cases with coeliac disease and 1385 control individuals from the Finnish, Hungarian and Italian populations. The protein expression level of IL18RAP was also compared between risk allele carriers and non-carriers by Western blotting. Furthermore, immunohistochemical analysis was performed to study IL18RAP protein expression in small intestinal biopsies of untreated and treated coeliac patients and controls. We confirmed genetic association and dose effects of variants at the 2q12.1 locus with coeliac disease in the Hungarian population. The GA haplotype of the markers rs13015714 and rs917997 showed the strongest association (P = 0.0001, odds ratio = 1.475, 95% confidence interval 1.21-1.80). Two putative isoforms of IL18RAP were detected and the ratios and total levels of these isoforms may contribute to the aetiology of coeliac disease. Our study supports IL18RAP as a novel predisposing gene for coeliac disease and highlights the need for further functional studies on this relatively unknown gene in coeliac disease pathogenesis.


Subject(s)
Celiac Disease/genetics , Genetic Predisposition to Disease , Interleukin-18 Receptor beta Subunit/genetics , White People/genetics , Blotting, Western , Female , Humans , Intestine, Small/metabolism , Intestine, Small/pathology , Leukocytes/metabolism , Male , Meta-Analysis as Topic
19.
Int Arch Allergy Immunol ; 144(3): 217-25, 2007.
Article in English | MEDLINE | ID: mdl-17579280

ABSTRACT

BACKGROUND: The aetiology of chronic urticaria is heterogeneous. Physical urticaria (PU) is estimated at around 35%, autoimmune urticaria (AIU) at 25% and chronic idiopathic urticaria (CIU) at 35% of all chronic urticaria cases. METHODS: Differences in clinical and laboratory parameters among AIU, PU and CIU groups were examined. AIU was diagnosed if the basophil CD63 assay was positive. Demographic data, severity of symptoms and association with allergic and autoimmune diseases were analysed by the aid of a questionnaire. Immunoassays were carried out and the effectiveness of therapy was also investigated. RESULTS: Concerning the urticaria score, AIU patients had significantly higher total urticaria scores than patients with CIU (p = 0.013), dermatographic urticaria (p = 0.05) or cholinergic urticaria (p = 0.038). Between CIU and dermatographic urticaria and between CIU and cholinergic urticaria patients, we found insignificant differences in the urticaria score (p = 0.707 and p = 0.336, respectively). AIU was more frequently associated with autoimmune diseases in the personal history (p < 0.001) and with other types of urticaria in the family history (p < 0.001). Also, anti-thyroid antibodies were more frequently detected in the AIU group. Antihistamine therapy was less effective in the AIU group (12.8%) than in the PU (70.3%) and CIU groups (68.6%), but there were no significant differences between the CIU and PU groups regarding the effectiveness of antihistamine therapy. CONCLUSION: The autoimmune subgroup represents the most severe form of chronic urticaria. On the other hand, there were no significant differences between the CIU and PU groups neither in urticaria scores nor in response to antihistamine therapy.


Subject(s)
Autoimmune Diseases/classification , Autoimmune Diseases/diagnosis , Urticaria/classification , Urticaria/diagnosis , Adolescent , Adult , Aged , Antigens, CD/analysis , Antigens, CD/biosynthesis , Autoimmune Diseases/immunology , Autoimmune Diseases/therapy , Chronic Disease , Diagnosis, Differential , Female , Humans , Male , Middle Aged , Platelet Membrane Glycoproteins/analysis , Platelet Membrane Glycoproteins/biosynthesis , Tetraspanin 30 , Urticaria/immunology , Urticaria/therapy
20.
Am J Public Health ; 97(5): 853-9, 2007 May.
Article in English | MEDLINE | ID: mdl-17395845

ABSTRACT

OBJECTIVES: We compared the health of people living in Roma settlements with that of the general population in Hungary. METHODS: We performed comparative health interview surveys in 2003 to 2004 in representative samples of the Hungarian population and inhabitants of Roma settlements. RESULTS: In persons older than 44 years, 10% more of those living in Roma settlements reported their health as bad or very bad than did those in the lowest income quartile of the general population. Of those who used any health services, 35% of the Roma inhabitants and 4.4% of the general population experienced some discrimination. In Roma settlements, the proportion of persons who thought that they could do much for their own health was 13% to 15% lower, and heavy smoking and unhealthy diet were 1.5 to 3 times more prevalent, than in the lowest income quartile of the general population. CONCLUSIONS: People living in Roma settlements experience severe social exclusion, which profoundly affects their health. Besides tackling the socioeconomic roots of the poor health of Roma people, specific public health interventions, including health education and health promotion programs, are needed.


Subject(s)
Health Status , Roma , Adolescent , Adult , Aged , Diet , Female , Health Surveys , Humans , Hungary , Income , Male , Middle Aged , Smoking
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