Shawkatová, Ivana*
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OBJECTIVES: Celiac disease (CD) is a chronic autoimmune disorder caused by a complex interplay between genetic and environmental factors. The main goal of our case-control study was to analyse the association of environmental factors with the odds of CD development in a sample of the Slovak population. METHODS: Data were collected from 1,226 respondents (534 CD patients and 692 controls) by a questionnaire. The impact of analysed parameters on the chance of disease development was assessed by multiple regression analysis and expressed as odds ratios (OR). Values of p < 0.05 were considered statistically significant. RESULTS: In the patient group, celiac disease was significantly more prevalent in women than in men (OR = 1.52, p = 0.010). Respondents with a positive family history of CD showed 2.9-fold higher odds of CD compared to others (p < 0.001), and respondents with coexisting autoimmune diseases had 2.6-fold higher odds of CD (p < 0.001). Subjects who had taken antibiotics at least three times a year during childhood had 1.95-fold higher odds of developing CD compared to those who took them less frequently or not at all (p = 0.022). Conversely, individuals who were breastfed in infancy had lower odds of CD compared to non-breastfed respondents (OR = 0.53, p < 0.001). The mode of delivery (vaginal vs. caesarean section), overcoming severe infections, and the timing of gluten introduction in childhood did not show a statistically significant effect on the odds of developing CD. CONCLUSION: Based on our data, being female, having a positive family history of CD, suffering from another autoimmune disease, and frequent use of antibiotics are factors associated with an increased chance of developing CD. On the other hand, breastfeeding in infancy seems to have a protective effect. Our findings highlight the importance of further research in understanding the complexities of this autoimmune condition and providing a foundation for prevention strategies.
- MeSH
- celiakie * epidemiologie MeSH
- dospělí MeSH
- kojení statistika a číselné údaje MeSH
- lidé středního věku MeSH
- lidé MeSH
- mladiství MeSH
- prevalence MeSH
- průzkumy a dotazníky MeSH
- rizikové faktory MeSH
- senioři MeSH
- studie případů a kontrol MeSH
- Check Tag
- dospělí MeSH
- lidé středního věku MeSH
- lidé MeSH
- mladiství MeSH
- mužské pohlaví MeSH
- senioři MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- Geografické názvy
- Slovenská republika MeSH
Východiská: Alogénna transplantácia krvotvorných buniek (allogeneic hematopoietic stem cell transplantation – alloHSCT) predstavuje významný terapeutický výkon pre liečbu celého spektra závažných chorôb. Pokroky v liečbe a podpornej starostlivosti zlepšili celkové prežívanie, avšak napriek tomu sa alloHSCT naďalej vyznačuje značnou úmrtnosťou, najčastejšie zapríčinenou chorobou z reakcie štepu proti hostiteľovi (graft-versus-host disease – GvHD). Cieľom našej retrospektívnej analýzy bolo zistiť, ktoré z vybraných faktorov mali vplyv na celkové prežívanie a vývoj GvHD po alloHSCT od HLA-identických súrodencov. Analyzovali sme vek pacienta a darcu, kompatibilitu v AB0 systéme, zhodu pohlavia príjemcu a darcu, zdroj krvotvorných buniek, čas od diagnózy po alloHSCT, typ prípravného režimu, typ profylaxie GvHD a relaps. Pacienti a metódy: Sledovali sme 96 pacientov (54 mužov, 42 žien), ktorí podstúpili alloHSCT od HLA-identického súrodenca. Medián sledovania bol 64,5 mesiaca (rozsah 1–218 mesiacov), medián veku príjemcov aj darcov bol 34 rokov. Najčastejšou indikáciou alloHSCT bolo malígne hematologické ochorenie. Výsledky: Najvyšší počet úmrtí zapríčinila GvHD a jej komplikácie (n = 24; 46,2 %) a na druhom mieste bol relaps (n = 18; 34,6 %). Akútnu GvHD vyvinulo 30 (31,3%) a chronickú GvHD 25 (26,0%) z celkového počtu 96 pacientov. Celkovo GvHD vyvinulo 45 pacientov (46,9%). Pozorovali sme horšie celkové prežívanie pacientov mužského pohlavia, ktorí mali darkyne ženy v porovnaní s ostatnými pacientami (p = 0,01; HR = 2,33). Celkové prežívanie bolo lepšie u pacientov transplantovaných do 1 roka od stanovenia diagnózy, v porovnaní s pacientami transplantovanými po 1 roku (p = 0,03; HR = 1,93). Žiadny z faktorov nemal štatisticky významný vplyv na akutnú GvHD, chronickú GvHD a celkovo na GvHD. Záver: Potvrdili sme, že nezhoda pohlaví, ak darcom je žena a príjemcom muž, signifikantne negatívne ovplyvňuje celkové prežívanie po alloHSCT. Rovnako, celkové prežívanie mali signifikantne kratšie pacienti, ktorí podstúpili alloHSCT neskôr ako 1 rok od potvrdenia diagnózy.
Backgrounds: Allogeneic hematopoietic stem cell transplantation (alloHSCT) is a substantial therapeutic procedure for the treatment of a wide spectrum of severe diseases. Despite advancements in treatment and supportive care, alloHSCT still carries a considerable mortality risk, primarily caused by graft-versus-host disease (GvHD). Our retrospective analysis aimed to identify the factors influencing overall survival and GvHD development in HLA-identical sibling alloHSCT. We have analyzed patients’ and donors’ age, AB0 compatibility, recipient-donor gender match, stem cell source, time from the diagnosis to alloHSCT, conditioning regimen type, GvHD prophylaxis, and relapse. Patients and methods: Our study included 96 patients (54 male, 42 female) who underwent HLA-identical sibling alloHSCT. The median follow-up was 64.5 months (range 1–218 months), and the median age of both recipients and donors was 34 years. Malignant hematological diseases were the most common indications for alloHSCT. Results: GvHD and its complications accounted for the highest number of deaths (N = 24; 46.2%), followed by relapse (N = 18; 34.6%). Acute GvHD developed in 30 patients (31.3%), while chronic GvHD occurred in 25 patients (26.0%), resulting in a total of 45 patients (46.9%) experiencing GvHD. Male recipients with female donors had significantly worse overall survival compared to other patients (P = 0.01; HR = 2.33). Overall survival was better in patients transplanted within 1 year from the diagnosis compared to those transplanted after 1 year (P = 0.03; HR = 1.93). No factor reached statistical significance regarding the impact on acute GvHD, chronic GvHD, or overall GvHD. Conclusion: We confirmed that sex mismatch, specifically in the case of a female donor and a male recipient, significantly negatively affects overall survival after alloHSCT. Additionally, overall survival is significantly shorter when the interval between the diagnosis and alloHSCT exceeds one year.
- MeSH
- analýza přežití * MeSH
- dospělí MeSH
- hematologické nádory mortalita terapie MeSH
- histokompatibilita MeSH
- homologní transplantace mortalita statistika a číselné údaje MeSH
- lidé středního věku MeSH
- lidé MeSH
- mladý dospělý MeSH
- nemoc štěpu proti hostiteli epidemiologie mortalita MeSH
- sourozenci MeSH
- statistika jako téma MeSH
- transplantace kostní dřeně * mortalita statistika a číselné údaje MeSH
- Check Tag
- dospělí MeSH
- lidé středního věku MeSH
- lidé MeSH
- mladý dospělý MeSH
- mužské pohlaví MeSH
- ženské pohlaví MeSH
- Publikační typ
- klinická studie MeSH
Infiltration of immune cells into CNS is one of the essential events in multiple sclerosis (MS) development. Adhesion molecules like the intercellular adhesion molecule 1 (ICAM-1) play critical role in this process. Therefore, the ICAM1 gene containing two important single-nucleotide polymorphisms (SNPs) belongs to candidate loci with possible involvement in MS susceptibility and/or severity. The objective of our case-control study was to analyze the association of two functional ICAM1 polymorphisms rs1799969 (or G241R) and rs5498 (or K469E) with susceptibility to MS and evaluate their influence on the age at disease onset, severity, neurological disability and progression rate. Two hundred forty-eight MS subjects (mean 39.2 years) and 208 age-matched controls (mean 35.6 years) were involved in the study. Genotyping of ICAM1 rs1799969 and rs5498 SNPs was performed by PCR-RFLP. Presence of the rs3135388 polymorphism tagging the major MS risk allele HLA-DRB1*15:01 allele was determined as well. Our analysis revealed no statistically significant association of ICAM1 polymorphisms with risk of MS development in the Slovak population. Stratification of study cohorts by gender, age at onset and presence of the HLA-DRB1*15:01 risk allele showed only moderate changes. Correlation of clinical findings as age at onset, Kurtzke Expanded Disability Status Scale, Multiple Sclerosis Severity Score and progression index with ICAM1 genotypes in MS patients revealed no significant association; however, patients with earlier onset of MS showed slightly higher frequencies of the homozygous G allele at rs5498 in comparison to other genotypes (P = 0.04), suggesting that GG carriers tend to induce MS at an earlier age.
- MeSH
- alely MeSH
- dospělí MeSH
- genetická predispozice k nemoci MeSH
- genotyp MeSH
- HLA-DRB1 řetězec genetika MeSH
- jednonukleotidový polymorfismus * MeSH
- lidé středního věku MeSH
- lidé MeSH
- mezibuněčná adhezivní molekula-1 genetika MeSH
- mladý dospělý MeSH
- roztroušená skleróza genetika MeSH
- studie případů a kontrol MeSH
- Check Tag
- dospělí MeSH
- lidé středního věku MeSH
- lidé MeSH
- mladý dospělý MeSH
- mužské pohlaví MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- Geografické názvy
- Slovenská republika MeSH
Objectives. Several associations between HLA complex and diabetes mellitus type 1A were found in various groups of patients of Caucasoid population. This study was therefore prompted to be conducted in Slovak population, since any such has not yet been performed in Slovak population. Methods. Patients suffering from DM-1A originated from all regions of Slovakia. Their age ranged from 1 to 42 years; but the criterion for including the subject to the study was the definition of diagnosis in older patients before their age of 15 (Table 1). The diagnosis was set up according to internationally accepted criteria. A total of 460 patients was typed for HLA-DQB1 alleles, among them 97 also for HLA-DQA1 and 146 for HLA-DRB1 alleles. HLA-typing was performed by a PCR-SSP method. Control group consisted of 196 (DQA), 143 (DQB1) and 130 (DRB1) unrelated blood donors aged 19-55 years old irrespective of their age or sex. The data obtained were expressed in a 2 x 2 contingency table and statistical significance was calculated by the Fisher exact test. Results. Among 11 HLA-DQB1 alleles tested DQB1*0302 was the most frequent in DM-1A patients (30.33 % vs. 5.59 % in healthy subjects (HS), followed by DQB1*0201 (22.93 % vs. 12.94 %, respectively). In contrast, the frequency rate of DQB1*0301 (10.66 % vs. 24.48 %), DQB1*0602 (2.17 % vs. 10.14 %) and DQB1*0603 (2.5 % vs. 8,39 %) were decreased in DM-1A patients. Out of 14 DQA1 alleles the highest occurrence rate showed DQA1*0301 (30.93 % VS. 17.09) and DQA1*0501 (34.02 % vs. 25.76 %), while DQA1*0102 (8.76 % vs. 16.58 %) and DQA1*0201(6.18 % vs. 13.51 %7), respectively, were found to be the least frequent. Among 13 HLA-DRB1 alleles tested, the most common occurrence rates showed DRB1*03 (26.37 % vs. 9.62 %) and DRB1*04 (7.19 % vs. 14.23 %), while the least frequent alleles were DRB1*15 (2.74% vs. 12.31 %), DRB1*07 (7.19 % vs. 14.23 %), and DRB1*11 (2.74 % vs. 20.38 %). The alleles DQB1*0302 and DQA1*0301, respectively, were present in the same individual in all DRB1*04 positive patients, suggesting that they belong to the haplotype. Similar situation was observed with the alleles DQB1*0201, DQA1*0501, and DRB*0301, respectively, forming the second HLA haplotype so characteristic for DM1A. For more details on this paper see also “www.elis.sk”.
- MeSH
- diabetes mellitus 1. typu * genetika imunologie MeSH
- dítě MeSH
- dospělí MeSH
- frekvence genu MeSH
- genetická predispozice k nemoci MeSH
- genetická vazba MeSH
- geny MHC třídy II MeSH
- HLA-D antigeny * genetika klasifikace MeSH
- HLA-DQ alfa řetězec MeSH
- HLA-DQ antigeny genetika MeSH
- HLA-DQ beta řetězec MeSH
- HLA-DR antigeny genetika MeSH
- HLA-DRB1 řetězec MeSH
- kojenec MeSH
- lidé středního věku MeSH
- lidé MeSH
- mladiství MeSH
- předškolní dítě MeSH
- referenční hodnoty MeSH
- Check Tag
- dítě MeSH
- dospělí MeSH
- kojenec MeSH
- lidé středního věku MeSH
- lidé MeSH
- mladiství MeSH
- mužské pohlaví MeSH
- předškolní dítě MeSH
- ženské pohlaví MeSH
- Publikační typ
- práce podpořená grantem MeSH
- srovnávací studie MeSH
- Geografické názvy
- Slovenská republika MeSH
