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Objective Nonalcoholic fatty liver disease (NAFLD), which is an emerging global chronic liver disease, has a close association with insulin resistance. We aimed to determine whether the Gly1057Asp (rs1805097) polymorphism of the insulin receptor substrate 2 (IRS2) gene is associated with NAFLD. Methods Using the polymerase chain reaction-restriction fragment length polymorphism method, 135 patients with biopsy-proven NAFLD and 135 controls underwent IRS2 genotype analysis. Results Genotype and allele distributions of the IRS2 gene Gly1057Asp variant conformed to the Hardy-Weinberg equilibrium in both the case and control groups (P >.05). The Asp/Asp genotype of IRS2 gene Gly1057Asp polymorphism compared with Gly/Gly genotype was associated with a 2.1-fold increased risk for NAFLD after adjustment for confounding factors (P =.029; odds ratio = 2.10, 95% CI = 1.23-3.97). Conclusion Our findings revealed for the first time that the Gly1057Asp Asp/Asp genotype of the IRS2 gene is a marker of increased NAFLD susceptibility; however, studies in other populations are required to confirm the results. [ABSTRACT FROM AUTHOR]

Regarding the central role of insulin resistance in NAFLD, we explored whether insulin-like growth factor 1 (IGF1) and insulin-like growth factor-binding protein 3 (IGFBP3) gene variants were associated with NAFLD susceptibility. IGF1 (rs6214) and IGFBP3 (rs3110697) gene variants were genotyped in 154 cases with biopsy-proven NAFLD and 156 controls using PCR-RFLP method. The IGF1 rs6214 "AA + AG" genotype compared with the "GG" genotype appeared to be a marker of decreased NAFLD susceptibility (p =.006; OR = 0.47, 95%CI = 0.28–0.80). Furthermore, the IGF1 rs6214 "A" allele was underrepresented in the cases than controls (p =.024; OR = 0.61, 95%CI = 0.40–0.94). However, we observed no significant difference in genotype or allele frequencies between the cases and controls for IGFBP3 gene. To our knowledge, these findings suggest, for the first time, that the IGF1 rs6214 "A" allele and "AA + AG" genotype have protective effects for NAFLD susceptibility. Nonetheless, further studies are needed to validate our findings. [ABSTRACT FROM AUTHOR]

Objective Nonalcoholic fatty liver disease (NAFLD) is an emerging global chronic liver disease encompassing a wide spectrum of disorders ranging from simple steatosis to nonalcoholic steatohepatitis, fibrosis, cirrhosis, and hepatocellular carcinoma. Considering the strong association between NAFLD and insulin resistance, and the vital role of insulin-like growth factor 1 (IGF1) in IR, we hypothesized that IGF1 gene polymorphism might be associated with NAFLD. Methods A total of 302 subjects, including 149 patients with biopsy-proven NAFLD and 153 controls, were enrolled in this case-control study. All the subjects were genotyped for the rs5742612 polymorphism of the IGF1 gene using the polymerase chain reaction-restriction fragment length polymorphism method. Results The distribution of IGF1 rs5742612 genotypes and alleles differed significantly between the cases with NAFLD and controls. The IGF1 rs5742612 CC genotype compared with the TT genotype or the TT+TC genotype occurred more frequently in the cases than the controls and the differences remained significant after adjustment for confounding factors such as age and body mass index (P  = .011, OR = 2.71, 95%CI = 1.16-5.85; and P  = .032, OR = 2.29, 95% CI = 1.10-5.24, respectively). Conclusion For the first time, this study uncovered that the IGF1 rs5742612 CC genotype compared with the TT genotype or the TT+TC genotype had a 2.71-fold or 2.29-fold increased risk for NAFLD, respectively. [ABSTRACT FROM AUTHOR]

Coeliac disease (CD) is an autoimmune disorder which leads to chronic inflammation of the gut. Untreated CD is associated with upper gastrointestinal malignancies, Small-bowel lymphoma and adenocarcinoma are recognized complications of untreated coeliac disease (CD). We report the case of a 43-year-old male suffering from CD who was treated with a gluten-free diet one year, presenting with complaints of intractable nausea and vomiting. After several studies, He underwent push enteroscopy, which identified one large mass lesion in the third part of duodenum. However, histopathological examination showed adenocarcinoma. Subsequently, a duodenal segment resection was performed. After surgery, the patient recovered well and left our hospital in good condition. Clinicians should take into small bowel adenocarcinoma is rare but associated with CD particularly in CD patients with worrying symptoms such as nausea and vomiting unresponsiveness to treatment and these patients should be screened for long term complications like malignancy. [ABSTRACT FROM AUTHOR]

Aim: The aim of this study was to assess the prevalence of celiac disease (CD) in dyspeptic patients. Background: Although severe mucosal abnormality with villous atrophy (lesions Marsh III) is the histology gold standard for the diagnosis of CD, non-specific microenteropathy (Marsh I-II) with positive serology is also common Patients with dyspepsia, specific CD antibodies and microenteropathy, could have CD. Patients and methods: From November 2007 to October 2008, 407 randomly chosen patients who underwent diagnostic upper gastrointestinal endoscopy for dyspeptic symptoms (193 male, 214 women; mean age 36.1 years) were studied. Small bowel biopsies were performed in all of them. Histologic characteristics in duodenal biopsy specimens for CD were evaluated according to the modified Marsh Classification. All the patients were also tested for serum total immunoglobulin A and anti-transglutaminase (tTG) antibodies. Those with IgA deficiency were tested for IgG tTG. Results: Duodenal histology showed Marsh I-IIIc lesions in 6.4% cases. 4 patients (0.98%) were IgA deficient and none of them were positive for IgG tTG. Serology showed positive results for tTGA in 8% of the patients and 2.5% of them had abnormal histology (Marsh I-IIIc) compatible with CD. Conclusion: The results of this study showed that milder enteropathy (Marsh 0-II) have a low specificity for CD. The prevalence of CD among dyspeptic individuals is significantly (2.5%) higher than in the general population (1%) and CD should be investigated in these patients. [ABSTRACT FROM AUTHOR]

Aim: The purpose of the present study was to evaluate the number and proportion of various causes of upper gastrointestinal bleeding and actual numbers of non-NSAID, non-Helicobacter pylori (H.pylori) peptic ulcers seen in endoscopy of these patients. Background: The number and the proportion of patients with non- H.pylori, non-NSAIDs peptic ulcer disease leading to upper gastrointestinal bleeding is believed to be increasing after eradication therapy for H.pylori. Patients and methods: Medical records of patients referred to the emergency room of Taleghani hospital from 2010 with a clinical diagnosis of upper gastrointestinal bleeding (hematemesis, coffee ground vomiting and melena) were included in this study. Patients with hematochezia with evidence of a source of bleeding from upper gastrointestinal tract in endoscopy were also included in this study. Results: In this study, peptic ulcer disease (all kinds of ulcers) was seen in 61 patients which were about 44.85% of abnormalities seen on endoscopy of patients. Among these 61 ulcers, 44 were duodenal ulcer, 22 gastric ulcer (5 patients had the both duodenal and gastric ulcers). Multiple biopsies were taken and be sent to laboratory for Rapid Urease Test and pathological examination. About 65.53% of patients had ulcers associated with H.pylori, 9.83% had peptic ulcer disease associated with NSAIDs and 11.47% of patients had ulcers associated with both H.pylori and consumption of NSAIDs. 13.11% of patients had non-NSAIDs non- H.pylori peptic ulcer disease. Conclusion: The results of this study supports the results of other studies that suggest the incidence of H.pylori infection related with duodenal ulcer is common, and that non-H pylori and non-NSAIDs duodenal ulcer is also common. [ABSTRACT FROM AUTHOR]

Background: Vitamin D and insulin play an important role in susceptibility to polycystic ovary syndrome (PCOS), and therefore vitamin D receptor (VDR), parathyroid hormone (PTH), and insulin receptor (INSR) gene variants might be involved in the pathogenesis of PCOS. Objective: The present study was designed to investigate the possible associations between polymorphisms in VDR, PTH, and INSR genes and the risk of PCOS. Materials and Methods: VDR, PTH, and INSR gene variants were genotyped in 35 women with PCOS and 35 controls using Polymerase chain reaction - Restriction fragment length polymorphism method. Furthermore, serum levels of glucose and insulin were measured in all participants. Results: No significant differences were observed for the VDR FokI, VDR Tru9I, VDR TaqI, PTH DraII, INSR NsiI, and INSR PmlI gene polymorphisms between the women with PCOS and controls. However, after adjustment for confounding factors, the VDR BsmI "Bb" genotype and the VDR ApaI "Aa" genotype were significantly under transmitted to the patients (p= 0.016; OR= 0.250; 95% CI= 0.081-0.769, and p= 0.017; OR= 0.260; 95% CI= 0.086-0.788, respectively). Furthermore, in the women with PCOS, insulin levels were lower in the participants with the INSR NsiI "NN" genotype compared with those with the "Nn + nn" genotypes (P= 0.045). Conclusion: The results showed an association between the VDR gene BsmI and ApaI polymorphisms and PCOS risk. These data also indicated that the INSR "NN" genotype was a marker of decreased insulin in women with PCOS. Our findings, however, do not lend support to the hypothesis that PTH gene DraII variant plays a role in susceptibility to PCOS. [ABSTRACT FROM AUTHOR]

Background: Given that obesity and insulin resistance play key roles in the pathogenesis of nonalcoholic fatty liver disease (NAFLD) and the connection between leptin and these metabolic diseases, the association between NAFLD and a leptin receptor gene (LEPR) polymorphism was examined., Methods: In this genetic case-control association study, 144 biopsy-proven NAFLD patients and 144 controls were genotyped for the LEPR gene Gln223Arg (rs1137101) polymorphism using the polymerase chain reaction-restriction fragment length polymorphism method., Results: The distributions of genotypes and alleles of Gln223Arg variant were in accordance with the Hardy-Weinberg equilibrium in the study groups (P > .05). Multivariate logistic regression analysis showed that the LEPR Gln223Arg Arg/Arg genotype was an independent risk factor for NAFLD; the Arg/Arg genotype, compared with the Gln/Gln genotype, was associated with a 2.09-fold increased risk for NAFLD (P = .036, odds ratio = 2.09 [95% CI = 1.31-5.95])., Conclusions: We found that the LEPR Gln223Arg Arg/Arg genotype was independently associated with a more than 2-fold rise in biopsy-proven NAFLD risk. Our findings, however, need to be corroborated by further studies., (© The Author(s) 2024. Published by Oxford University Press on behalf of American Society for Clinical Pathology. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.)

Objective: Nonalcoholic fatty liver disease (NAFLD) is a chronic liver disease and a growing global epidemic. In NAFLD, liver fat surpasses 5% of hepatocytes without the secondary causes of lipid accumulation or excessive alcohol consumption. Given the link between NAFLD and insulin resistance, the possible association between the rs2854744 (-202 G>T) promoter polymorphism of insulin-like growth factor binding protein 3 ( IGFBP3 ) gene and NAFLD was investigated in this study., Materials and Methods: In this genetic case-control association study, the IGFBP3 rs2854744 genotypes of 315 unrelated individuals, including 156 patients with biopsy-proven NAFLD and 159 controls, were determined using polymerase chain reaction/restriction fragment length polymorphism analyses., Results: The "GT+TT" genotype of the IGFBP3 rs2854744 polymorphism, compared with the "GG" genotype, was associated with a 2.7-fold increased risk of NAFLD after adjustment for confounding factors (P = 0.009; odds ratio [OR] = 2.71; 95% confidence interval [CI] = 1.19-3.18). Additionally, the IGFBP3 rs2854744 "T" allele, in comparison with the "G" allele, was significantly overrepresented in NAFLD patients than the controls (P = 0.008; OR = 1.85; 95%CI = 1.23-2.94)., Conclusion: Our findings first indicated that the IGFBP3 rs2854744 "GT+TT" genotype is a marker of increased NAFLD susceptibility; however, it needs to be supported by further investigations in other populations.

Background: Colorectal cancer (CRC) is the fourth leading cause of cancer-related death around the world and accumulated evidence indicates the association between CRC and obesity and insulin resistance., Objectives: Regarding the role of adiponectin in obesity and insulin resistance, we explored whether genetic variants in adiponectin (ADIPOQ) and adiponectin receptor 1 (ADIPOR1) are associated with CRC risk., Materials and Methods: ADIPOQ (rs2241766) and ADIPOR1 (rs2275738) gene variants were genotyped in 261 cases with CRC and 339 controls using PCR-RFLP method., Results: In this study, no significant difference was observed for ADIPOQ gene rs2241766 variant between the cases and controls. However, carriers of the ADIPOR1 (rs2275738) "CC + CT" genotype compared with "TT" genotype occurred more frequently in the cases with CRC than the controls, and the difference remained significant after adjustment for age, BMI, sex, smoking status, NSAID use, and family history of CRC (P = 0.048; OR = 1.49, 95%CI = 1.01-2.20). Interestingly, after adjustment for confounding factors the ADIPOR1 "CC + TC" genotype compared with "TT" genotype was also associated with an increased risk for obesity in the cases (P = 0.040; OR = 1.86, 95%CI = 1.03-3.36)., Conclusions: Our findings suggest for the first time that the - 106 C > T (rs2275738) variant of ADIPOR1 gene may be a genetic contributor to CRC and obesity risk in the cases with CRC. However, further studies with bigger sample size are needed to validate these findings.

Background: Colorectal cancer (CRC) is the second most commonly diagnosed cancer and the fourth leading cause of cancer-related mortality around the world., Objectives: With regard to the role of obesity in colorectal cancer (CRC) and the role of lep tin in obesity, we investigated whether leptin ( LEP ) and leptin receptor ( LEPR ) gene variants are associated with CRC risk., Patients and Methods: We evaluated LEP (rs7799039) and LEPR (rs1137101) gene variants by using PCR-RFLP method in 261 cases with CRC and 339 controls., Results: No significant difference was found for rs7799039 and rs1137101gene variants between the cases with CRC and controls. However, the LEPR rs1137101 "GG" genotype compared with "AA" genotype and "AA + AG" genotype was associated with increased risks for obesity, and the differences remained significant after adjustment for confounding factors including age, sex, smoking status, and NSAID use (P = 0.015; OR = 2.42, 95%CI = 1.19 - 4.93 and P = 0.016; OR = 2.28, 95%CI = 1.17 - 4.48, respectively). In addition, the LEPR "G" allele compared with the "A" allele was associated with an increased risk for obesity (P = 0.024; OR = 1.44, 95%CI = 1.05 - 1.98)., Conclusions: Consistent with most previous studies, our findings found no association between LEP (rs7799039) and LEPR (rs1137101) gene variants and CRC risk. However, the LEPR rs1137101 "GG" genotype compared with the "AA" genotype and "AA+AG" genotype was associated with a 2.42-fold and a 2.28-fold increased risk for obesity, respectively., Competing Interests: Conflict of Interest:The authors declare that they have no conflict of interest.

Aim: The aim of this study was to assess the prevalence of celiac disease (CD) in dyspeptic patients., Background: Although severe mucosal abnormality with villous atrophy (lesions Marsh III) is the histology gold standard for the diagnosis of CD, non-specific microenteropathy (Marsh I-II) with positive serology is also common Patients with dyspepsia, specific CD antibodies and microenteropathy, could have CD., Patients and Methods: From November 2007 to October 2008, 407 randomly chosen patients who underwent diagnostic upper gastrointestinal endoscopy for dyspeptic symptoms (193 male, 214 women; mean age 36.1 years) were studied. Small bowel biopsies were performed in all of them. Histologic characteristics in duodenal biopsy specimens for CD were evaluated according to the modified Marsh Classification. All the patients were also tested for serum total immunoglobulin A and anti-transglutaminase (tTG) antibodies. Those with IgA deficiency were tested for IgG tTG., Results: Duodenal histology showed Marsh I-IIIc lesions in 6.4% cases. 4 patients (0.98%) were IgA deficient and none of them were positive for IgG tTG. Serology showed positive results for tTGA in 8% of the patients and 2.5% of them had abnormal histology (Marsh I-IIIc) compatible with CD., Conclusion: The results of this study showed that milder enteropathy (Marsh 0-II) have a low specificity for CD. The prevalence of CD among dyspeptic individuals is significantly (2.5%) higher than in the general population (1%) and CD should be investigated in these patients.