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Advancements in Autoimmune Hepatitis Epidemiology, Treatment and Complication - a 15-year Retrospective Study.
IF 2.6 4区 医学 Q2 GASTROENTEROLOGY & HEPATOLOGY Pub Date : 2025-03-04 DOI: 10.1016/j.clinre.2025.102570
Mifleh Tatour, Fadi Abu Baker, Tarek Saadi, Ahmad Yahia, Rawi Hazzan

Introduction and objectives: Autoimmune hepatitis (AIH) is a rare, heterogeneous liver disease marked by autoantibodies, hypergammaglobulinemia, and distinct histological features. Predominantly affecting women, its incidence and prevalence show significant regional variability globally. Therefore, our aim is to examine the trends of AIH and to assess its demographics, management, and disease progression using an extensive population-based database.

Materials and methods: This retrospective, population-based study analyzed data from 2.7 million adults in Clalit Health Services, focusing on autoimmune hepatitis (AIH) diagnoses between 2009 and 2023. Data reordered included demographics, clinical details, and treatment regimens. Key outcomes tracked were the development of cirrhosis and its complications.

Results: This study included 992 AIH patients with a median age of 51.5 years, 80.4% female, and a median follow-up of 6.1 years. Obesity was present in 23.2%, and 10.9% had thyroid disease. At diagnosis, 22.9% had cirrhosis, and an additional 137 patients developed cirrhosis during follow-up, leading to a total prevalence of 36.5%. Among cirrhotic patients, 29.9% experienced decompensation, 25.3% developed ascites, 9.3% had variceal bleeding, and 10.4% developed hepatic encephalopathy. Hepatocellular carcinoma (HCC) occurred in 5.24% of cirrhotic patients, with an incidence rate of 6.32 cases per 1000 patient-years. Overall, 11.2% of cirrhotic patients underwent liver transplantation. The proportion of AIH patients diagnosed with cirrhosis at the time of diagnosis significantly decreased over the study period (p = 0.0028).

Conclusions: This study demonstrates a decreasing trend in AIH patients diagnosed with cirrhosis, suggesting earlier detection and improved management, alongside a lower documented incidence of HCC.

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引用次数: 0
Serrated lesion detection 2.0: of blurred vessels and luminal overinflation.
IF 2.6 4区 医学 Q2 GASTROENTEROLOGY & HEPATOLOGY Pub Date : 2025-03-03 DOI: 10.1016/j.clinre.2025.102564
Vincent Zimmer
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引用次数: 0
Macrophage therapy and liver regeneration: results and perspectives.
IF 2.6 4区 医学 Q2 GASTROENTEROLOGY & HEPATOLOGY Pub Date : 2025-03-03 DOI: 10.1016/j.clinre.2025.102569
Nicolas Lanthier, Laurent Spahr

The recent results of the study evaluating the impact of macrophage transplantation in cirrhosis with the aim of improving liver function open up a number of prospects. Although negative, fewer deaths were observed, as well as a favourable cytokine profile. This is in line with other results obtained in liver disease, notably through signalling and regeneration studies on human liver tissue. For the future, a number of questions need to be answered if we are to make progress in this fascinating field.

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引用次数: 0
Impact of Frailty on Outcomes and Biliary Drainage Strategies in Acute Cholangitis: A Retrospective Cohort Analysis.
IF 2.6 4区 医学 Q2 GASTROENTEROLOGY & HEPATOLOGY Pub Date : 2025-03-03 DOI: 10.1016/j.clinre.2025.102568
Ali Jaan, Amraha Zubair, Umer Farooq, Hamna Nadeem, Ammad Javaid Chaudhary, Muhammad Shahzil, Ashish Dhawan, Hammad Zafar, Asad Ur Rahman, Tilak Shah

Background: Acute cholangitis (AC) is a potentially fatal infection of the biliary tract characterized by varying degrees of severity, with endoscopic retrograde cholangiopancreatography (ERCP) serving as the primary drainage modality. Though frailty is linked to poor outcomes in general, its implications for AC patients remain unexplored.

Methods: Using the National Inpatient Sample Database 2017-2020, we identified adult AC hospitalizations, which were further stratified based on frailty. A multivariate regression model was used for analysis.

Results: We included 32,310 AC patients, out of whom 11,230 (34.76%) were frail. Frail patients had elevated AC severity as well as in-hospital mortality (adjusted odds ratio [aOR] 6.89; P<0.01). Additionally, frail patients were found to have significantly higher odds of complications including septic shock (aOR 15.87), acute renal failure (aOR 5.67), acute respiratory failure (aOR 11.11) and need for mechanical ventilation (aOR 13.80). From a procedural viewpoint, frail patients had higher odds of undergoing percutaneous biliary drainage (PBD) but lower odds of undergoing "early" ERCP (ERCP within 24 hours of admission). When compared to non-frail counterparts, frail patients were more likely to undergo PBD as opposed to early ERCP (aOR 1.46; P=0.01).

Conclusion: Frailty independently predicts poor AC outcomes and has a notable impact on the choice of biliary drainage procedure. Recognizing frailty instead of age alone as a determinant of AC outcomes can aid clinicians in risk stratification and guide tailored interventions in this population.

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引用次数: 0
CHANGES IN THE PRESENTATION AND CHARACTERISTICS OF HCV RELATED HEPATOCELLULAR CARCINOMA IN THE ERA OF DIRECT ANTIVIRAL THERAPY: A RETROSPECTIVE STUDY.
IF 2.6 4区 医学 Q2 GASTROENTEROLOGY & HEPATOLOGY Pub Date : 2025-03-03 DOI: 10.1016/j.clinre.2025.102567
Randa Salah Abdelmoneim, Fathalla Sedki, Mohamed Fathy Bakosh

Background: Hepatocellular carcinoma (HCC) is the sixth common malignancy worldwide. In Egypt, the main cause of HCC is hepatitis C related cirrhosis. After the successful mass treatment program of HCV in 2018 with direct-acting antivirals (DAAs) therapy, a large percentage of patients have been treated and effectively achieved sustained virological response (SVR). Recently, some studies claimed that HCCs that developed after treatment with DAA have more aggressive behavior.

Purpose: to detect the possible change of HCC pattern before and after DAAs era and its effect on overall survival (OS).

Methods: 428 naïve HCC patients were divided into 2 groups: Group I HCC patients not treated with DAAs and Group II HCC patients treated with DAAs. Then we compared demographic, clinical, radiological, and laboratory characteristics between both groups.

Results: Group II had improved liver function tests, including serum bilirubin, albumin, and international normalized ratio, than Group I (p< 0.001, p< 0.001, p< 0.001, respectively). They had a lower level of liver aminotransferases. Group II showed a larger infiltrative pattern of HCC, with a high incidence of portal vein thrombosis (p= 0.003, p< 0.001, p= 0.048, respectively). Group II received more curative or palliative treatment options, while 55% of Group I received the best supportive care. There was no significant difference in 1-year and 2-years OS between both group, except that group II patients had better 2-year OS in subgroup BCLC stage C.

Conclusion: The tumor pattern has changed into a more aggressive phenotype after DAAs. DAAs have succeeded in preserving the liver condition. However, they did not demonstrate any protective effect on the OS of the patients. There is a strong need for strict screening program for early detection of HCC in the early stages, that are eligible for curative options, after HCV treatment of DAAs.

{"title":"CHANGES IN THE PRESENTATION AND CHARACTERISTICS OF HCV RELATED HEPATOCELLULAR CARCINOMA IN THE ERA OF DIRECT ANTIVIRAL THERAPY: A RETROSPECTIVE STUDY.","authors":"Randa Salah Abdelmoneim, Fathalla Sedki, Mohamed Fathy Bakosh","doi":"10.1016/j.clinre.2025.102567","DOIUrl":"https://doi.org/10.1016/j.clinre.2025.102567","url":null,"abstract":"<p><strong>Background: </strong>Hepatocellular carcinoma (HCC) is the sixth common malignancy worldwide. In Egypt, the main cause of HCC is hepatitis C related cirrhosis. After the successful mass treatment program of HCV in 2018 with direct-acting antivirals (DAAs) therapy, a large percentage of patients have been treated and effectively achieved sustained virological response (SVR). Recently, some studies claimed that HCCs that developed after treatment with DAA have more aggressive behavior.</p><p><strong>Purpose: </strong>to detect the possible change of HCC pattern before and after DAAs era and its effect on overall survival (OS).</p><p><strong>Methods: </strong>428 naïve HCC patients were divided into 2 groups: Group I HCC patients not treated with DAAs and Group II HCC patients treated with DAAs. Then we compared demographic, clinical, radiological, and laboratory characteristics between both groups.</p><p><strong>Results: </strong>Group II had improved liver function tests, including serum bilirubin, albumin, and international normalized ratio, than Group I (p< 0.001, p< 0.001, p< 0.001, respectively). They had a lower level of liver aminotransferases. Group II showed a larger infiltrative pattern of HCC, with a high incidence of portal vein thrombosis (p= 0.003, p< 0.001, p= 0.048, respectively). Group II received more curative or palliative treatment options, while 55% of Group I received the best supportive care. There was no significant difference in 1-year and 2-years OS between both group, except that group II patients had better 2-year OS in subgroup BCLC stage C.</p><p><strong>Conclusion: </strong>The tumor pattern has changed into a more aggressive phenotype after DAAs. DAAs have succeeded in preserving the liver condition. However, they did not demonstrate any protective effect on the OS of the patients. There is a strong need for strict screening program for early detection of HCC in the early stages, that are eligible for curative options, after HCV treatment of DAAs.</p>","PeriodicalId":10424,"journal":{"name":"Clinics and research in hepatology and gastroenterology","volume":" ","pages":"102567"},"PeriodicalIF":2.6,"publicationDate":"2025-03-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143566240","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Long-term Virological and Clinical Evaluation of Chronic Hepatitis B Patients Under Nucleos(t)ide Analogues Therapy.
IF 2.6 4区 医学 Q2 GASTROENTEROLOGY & HEPATOLOGY Pub Date : 2025-03-03 DOI: 10.1016/j.clinre.2025.102566
Maria Stella Franzè, Carlo Saitta, Daniele Lombardo, Cristina Musolino, Gaia Caccamo, Roberto Filomia, Concetta Pitrone, Irene Cacciola, Teresa Pollicino, Giovanni Raimondo

Introduction and objectives: Identifying hepatitis B virus (HBV) patients eligible for safe nucleos(t)ide analogues (NAs) discontinuation remains challenging. Discrepant data on combined HBV DNA and quantitative HBV surface antigen (qHBsAg) assessments are available. This study aimed to identify potential predictors for safe treatment discontinuation by evaluating clinical/virological outcomes in patients on long-term NA therapy.

Patients and methods: A retrospective cohort of 139 chronic hepatitis B (CHB) patients - who consecutively started Entecavir or Tenofovir from 2007 to 2011 - was evaluated. The study population was selected based on anti-HBe positivity, absence of prior antiviral treatment, absence of non-HBV-related liver diseases or hepatocellular carcinoma (HCC), and long-term clinical/ultrasonographic/laboratory evaluations post-NA initiation. Serum samples collected before starting NA (T0) and over ten years (T1-T10) were tested for HBV DNA and qHBsAg.

Results: Twenty-two/139 (15.8%) CHB patients (12 chronic hepatitis, 10 cirrhosis) met the inclusion criteria. All patients showed a significant decrease in liver stiffness values in the ten years of follow-up (p = 0.001), and no hepatic decompensation occurred. Three/22 (13.6%) patients developed HCC. Ten/22 patients (45.5%; group-A) had fluctuating HBV DNA, while other 10/22 (45.5%; group-B) showed undetectable HBV DNA for 5-9 years with more significant qHBsAg decline (p = 0.04) than group-A. Two/22 (9.1%) patients showed a critical qHBsAg decline up to seroconversion together with undetectable HBV DNA.

Conclusions: Persistent undetectable HBV DNA levels correlate with qHBsAg reduction and the potential HBsAg seroclearance, suggesting that long-term HBV DNA monitoring in NA-treated CHB patients might help identify candidates for treatment discontinuation.

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引用次数: 0
Hepatomegaly as the first clue to familial mediterranean fever
IF 2.6 4区 医学 Q2 GASTROENTEROLOGY & HEPATOLOGY Pub Date : 2025-03-01 DOI: 10.1016/j.clinre.2025.102565
Rim Bourguiba , Romain Guery , Lea Savey , Laurence Cuisset , Sophie Georgin-Lavialle
{"title":"Hepatomegaly as the first clue to familial mediterranean fever","authors":"Rim Bourguiba ,&nbsp;Romain Guery ,&nbsp;Lea Savey ,&nbsp;Laurence Cuisset ,&nbsp;Sophie Georgin-Lavialle","doi":"10.1016/j.clinre.2025.102565","DOIUrl":"10.1016/j.clinre.2025.102565","url":null,"abstract":"","PeriodicalId":10424,"journal":{"name":"Clinics and research in hepatology and gastroenterology","volume":"49 4","pages":"Article 102565"},"PeriodicalIF":2.6,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143540453","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Fatal outcome of erythropoietic protoporphyria with advanced liver disease
IF 2.6 4区 医学 Q2 GASTROENTEROLOGY & HEPATOLOGY Pub Date : 2025-02-27 DOI: 10.1016/j.clinre.2025.102557
Richard Taubert , Mohammad Kabbani , Stefanie Walter , Lilia Goudeva , Björn Hartleben , Ulrich Stölzel , Patrick Behrendt
{"title":"Fatal outcome of erythropoietic protoporphyria with advanced liver disease","authors":"Richard Taubert ,&nbsp;Mohammad Kabbani ,&nbsp;Stefanie Walter ,&nbsp;Lilia Goudeva ,&nbsp;Björn Hartleben ,&nbsp;Ulrich Stölzel ,&nbsp;Patrick Behrendt","doi":"10.1016/j.clinre.2025.102557","DOIUrl":"10.1016/j.clinre.2025.102557","url":null,"abstract":"","PeriodicalId":10424,"journal":{"name":"Clinics and research in hepatology and gastroenterology","volume":"49 4","pages":"Article 102557"},"PeriodicalIF":2.6,"publicationDate":"2025-02-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143536866","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Prevalence and impact of sarcopenia in patients with inflammatory bowel diseases: A prospective cohort study
IF 2.6 4区 医学 Q2 GASTROENTEROLOGY & HEPATOLOGY Pub Date : 2025-02-26 DOI: 10.1016/j.clinre.2025.102555
Solène Dermine , Thomas Bazin , Fatimé Adam Hassan , Johanna Bettolo , Lore Billiauws , Justine Bourdillel , Clément Bresteau , Olivier Corcos , Myriam El khatib , Ashiq Mohamed Gouse , Coralie Hutinet , Alexandre Nuzzo , Francisca Joly

Background

Inflammatory bowel disease (IBD) patients with sarcopenia are at increased morbidity risk. The aim of this study was to assess the prevalence of sarcopenia in IBD outpatients using both morphological and functional criteria.

Methods

In this prospective cohort study, all IBD patients admitted to the day hospital unit between March 01 and 31, 2023 were included. Muscle mass and function were evaluated using bioelectrical impedance analysis and handgrip strength measurement, respectively. Probable sarcopenia was defined as reduced handgrip strength (<16–27 kg). Myopenia was defined by a low appendicular muscle mass index (<5.5–7 kg/m²). Sarcopenia was diagnosed based on the coexistence of reduced muscle strength and muscle mass. Disease activity, therapeutic changes, hospitalizations, and IBD-related surgeries were assessed at month 6.

Results

Sixty patients with either Crohn's disease (CD, 52 %) or ulcerative colitis (48 %), with a median age of 37 years (interquartile range [IQR]: 28–54), were included. Fifty-five percent were women. Most patients were in remission (67 %, n = 40). In CD patients, the involvement was ileocolic (48 %), ileal (35 %), or colonic (16 %). A history of IBD-related digestive surgery was noted in 30 % of cases. The median body mass index [BMI] was 24 (IQR: 21–27). The prevalence of sarcopenia, probable sarcopenia, and myopenia was 10 %, 18 %, and 20 %, respectively. Sarcopenic patients were significantly older (59 vs 36 years, p = 0.01), had a longer disease duration (20 vs 8 years, p = 0.003), were more likely to have associated joint inflammation (27 % vs 6 %, p = 0.01) and CD (80 % vs 49 %, p = 0.36). Myopenia was significantly associated with a history of surgery (67 % vs 21 %, p = 0.004) and a lower BMI (21 vs 24, p = 0.001).

Conclusion

In this prospective cohort of IBD outpatients, 10 % and 20 % of patients had sarcopenia and myopenia, respectively. Screening for sarcopenia therefore seems essential in this population, including in stable outpatients in remission who do not meet malnutrition criteria and in overweight patients, as according to the literature, sarcopenia is associated with poorer clinical outcomes and increased postoperative complications. Interventional studies are needed to assess the impact of multidisciplinary treatment of sarcopenia on quality of life and disease progression.
{"title":"Prevalence and impact of sarcopenia in patients with inflammatory bowel diseases: A prospective cohort study","authors":"Solène Dermine ,&nbsp;Thomas Bazin ,&nbsp;Fatimé Adam Hassan ,&nbsp;Johanna Bettolo ,&nbsp;Lore Billiauws ,&nbsp;Justine Bourdillel ,&nbsp;Clément Bresteau ,&nbsp;Olivier Corcos ,&nbsp;Myriam El khatib ,&nbsp;Ashiq Mohamed Gouse ,&nbsp;Coralie Hutinet ,&nbsp;Alexandre Nuzzo ,&nbsp;Francisca Joly","doi":"10.1016/j.clinre.2025.102555","DOIUrl":"10.1016/j.clinre.2025.102555","url":null,"abstract":"<div><h3>Background</h3><div>Inflammatory bowel disease (IBD) patients with sarcopenia are at increased morbidity risk. The aim of this study was to assess the prevalence of sarcopenia in IBD outpatients using both morphological and functional criteria.</div></div><div><h3>Methods</h3><div>In this prospective cohort study, all IBD patients admitted to the day hospital unit between March 01 and 31, 2023 were included. Muscle mass and function were evaluated using bioelectrical impedance analysis and handgrip strength measurement, respectively. Probable sarcopenia was defined as reduced handgrip strength (&lt;16–27 kg). Myopenia was defined by a low appendicular muscle mass index (&lt;5.5–7 kg/m²). Sarcopenia was diagnosed based on the coexistence of reduced muscle strength and muscle mass. Disease activity, therapeutic changes, hospitalizations, and IBD-related surgeries were assessed at month 6.</div></div><div><h3>Results</h3><div>Sixty patients with either Crohn's disease (CD, 52 %) or ulcerative colitis (48 %), with a median age of 37 years (interquartile range [IQR]: 28–54), were included. Fifty-five percent were women. Most patients were in remission (67 %, <em>n</em> = 40). In CD patients, the involvement was ileocolic (48 %), ileal (35 %), or colonic (16 %). A history of IBD-related digestive surgery was noted in 30 % of cases. The median body mass index [BMI] was 24 (IQR: 21–27). The prevalence of sarcopenia, probable sarcopenia, and myopenia was 10 %, 18 %, and 20 %, respectively. Sarcopenic patients were significantly older (59 vs 36 years, <em>p</em> = 0.01), had a longer disease duration (20 vs 8 years, <em>p</em> = 0.003), were more likely to have associated joint inflammation (27 % vs 6 %, <em>p</em> = 0.01) and CD (80 % vs 49 %, <em>p</em> = 0.36). Myopenia was significantly associated with a history of surgery (67 % vs 21 %, <em>p</em> = 0.004) and a lower BMI (21 vs 24, <em>p</em> = 0.001).</div></div><div><h3>Conclusion</h3><div>In this prospective cohort of IBD outpatients, 10 % and 20 % of patients had sarcopenia and myopenia, respectively. Screening for sarcopenia therefore seems essential in this population, including in stable outpatients in remission who do not meet malnutrition criteria and in overweight patients, as according to the literature, sarcopenia is associated with poorer clinical outcomes and increased postoperative complications. Interventional studies are needed to assess the impact of multidisciplinary treatment of sarcopenia on quality of life and disease progression.</div></div>","PeriodicalId":10424,"journal":{"name":"Clinics and research in hepatology and gastroenterology","volume":"49 4","pages":"Article 102555"},"PeriodicalIF":2.6,"publicationDate":"2025-02-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143531102","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Methylation profile of CD247 and FOXP3 genes and frequency of certain HLA-DQ haplotypes in Celiac disease
IF 2.6 4区 医学 Q2 GASTROENTEROLOGY & HEPATOLOGY Pub Date : 2025-02-24 DOI: 10.1016/j.clinre.2025.102562
Malik Ejder Yildirim , Hilmi Ataseven , Hande Kucuk Kurtulgan , Seyma Tastemur , Ahmet Sirin

Background

Celiac disease is an autoimmune disorder that affects the small intestine in people with gluten intolerance. HLA-DQ2 and DQ8 have been associated with Celiac Disease. CD247 is a subunit of the T cell receptor complex and Forkhead box P3 (FOXP3) is a transcription factor involved in the regulation of the immune response. Expression levels of these two markers in various diseases, including autoimmune disorders, are controversial. In this context, we aimed to shed light on the etiopathogenesis of Celiac disease by determining the methylation profile of CD247 and FOXP3 genes, and to calculate the frequency of HLA-DQ haplotypes in this disease.

Methods

Methylated and unmethylated copy numbers of the CD247 and FOXP3 genes in samples were calculated using the methylation-specific qPCR method. The records regarding HLA-DQ2 and DQ8 genotypes previously detected from our patients by Real Time PCR and tissue transglutaminase IgA (TTG-IgA) by ELISA, were analyzed.

Results

CD247 methylation rate in our patients was significantly lower than in controls. According to the Marsh classification, the methylation level in Marsh type 2–3 patients was statistically lower than in type 1. On the contrary, FOXP3 had a significantly higher methylation rate in the patient group compared to healthy controls, and this gene was also found to be more methylated in Marsh type 2–3 patients than in Marsh type 1. In the patient group, HLA-DQ2 positivity was 82.5% and HLA-DQ8 positivity was 37.5%.

Conclusion

The data suggest that CD247 expression is upregulated, whereas FOXP3 expression is downregulated in Celiac disease. Among HLA haplotypes, HLA-DQ2 heterodimer came to the forefront with its frequency in terms of celiac predisposition.
{"title":"Methylation profile of CD247 and FOXP3 genes and frequency of certain HLA-DQ haplotypes in Celiac disease","authors":"Malik Ejder Yildirim ,&nbsp;Hilmi Ataseven ,&nbsp;Hande Kucuk Kurtulgan ,&nbsp;Seyma Tastemur ,&nbsp;Ahmet Sirin","doi":"10.1016/j.clinre.2025.102562","DOIUrl":"10.1016/j.clinre.2025.102562","url":null,"abstract":"<div><h3>Background</h3><div>Celiac disease is an autoimmune disorder that affects the small intestine in people with gluten intolerance. HLA-DQ2 and DQ8 have been associated with Celiac Disease. CD247 is a subunit of the T cell receptor complex and Forkhead box P3 (FOXP3) is a transcription factor involved in the regulation of the immune response. Expression levels of these two markers in various diseases, including autoimmune disorders, are controversial. In this context, we aimed to shed light on the etiopathogenesis of Celiac disease by determining the methylation profile of <em>CD247</em> and <em>FOXP3</em> genes, and to calculate the frequency of HLA-DQ haplotypes in this disease.</div></div><div><h3>Methods</h3><div>Methylated and unmethylated copy numbers of the <em>CD247</em> and <em>FOXP3</em> genes in samples were calculated using the methylation-specific qPCR method. The records regarding HLA-DQ2 and DQ8 genotypes previously detected from our patients by Real Time PCR and tissue transglutaminase IgA (TTG-IgA) by ELISA, were analyzed.</div></div><div><h3>Results</h3><div><em>CD247</em> methylation rate in our patients was significantly lower than in controls. According to the Marsh classification, the methylation level in Marsh type 2–3 patients was statistically lower than in type 1. On the contrary, <em>FOXP3</em> had a significantly higher methylation rate in the patient group compared to healthy controls, and this gene was also found to be more methylated in Marsh type 2–3 patients than in Marsh type 1. In the patient group, HLA-DQ2 positivity was 82.5% and HLA-DQ8 positivity was 37.5%.</div></div><div><h3>Conclusion</h3><div>The data suggest that CD247 expression is upregulated, whereas FOXP3 expression is downregulated in Celiac disease. Among HLA haplotypes, HLA-DQ2 heterodimer came to the forefront with its frequency in terms of celiac predisposition.</div></div>","PeriodicalId":10424,"journal":{"name":"Clinics and research in hepatology and gastroenterology","volume":"49 4","pages":"Article 102562"},"PeriodicalIF":2.6,"publicationDate":"2025-02-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143514858","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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Clinics and research in hepatology and gastroenterology
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