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Contu L Orrù S Carcassi C Giuressi E Mulargia M Cappai L Valentini D Lai S Boero R Masala MV Aste N Biggio P Cottoni F Cerimele D 《Tissue antigens》2004,64(1):43-57
We determined the molecular haplotypes of the HLA-A, HLA-C and HLA-B loci and the MHC class I-B-related (MIB) microsatellite in 179 unrelated psoriatic patients (72 familial cases) and in 120 controls. The HLA-A*3002-Cw*0501-B*1801-MIB1 haplotype showed a strong negative association with psoriasis vulgaris (PV) and in particular with familial PV, revealing the presence of a PV-protective gene. Analysis of association and linkage disequilibrium of the single alleles and the various two-three-four-locus segments of this haplotype indicated the presence of a protective gene telomeric to the HLA-C locus. This finding was confirmed in 13 informative multiplex PV families, in which at least one parent carried the EH18.2 haplotype. In two families, an affected sibling presented HLA-A/C recombination on the EH18.2 haplotype. A study of 12 polymorphic microsatellites in all members of the informative families, 145 PV patients, 120 controls and 32 EH18.2 homozygous healthy individuals demonstrated that the protection conferred by the EH18.2 haplotype lies within a 170 kb interval between the C143 and C244 loci, most probably in a 60 kb segment between the C132 and C244 loci. 相似文献
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Weiwei Weng Meng Zhang Shujuan Ni Cong Tan Midie Xu Xin Wang Hui Sun Lei Wang Dan Huang Weiqi Sheng 《Journal of gastrointestinal oncology.》2022,13(3):1035
BackgroundAlpha-fetoprotein-producing gastric cancer (AFPGC) is a subtype of gastric cancer (GC) with more aggressive biological behavior. As a highly specific tight junction component exclusively present in gastric mucosa and gastric adenocarcinomas, claudin-18.2 (CLDN18.2) has become an emerging target in GC. In this study, we aimed to provide insight into AFPGC and investigate the expression and the clinical implications of CLDN18.2 in AFPGC.MethodsWe retrospectively collected 98 cases of AFPGC and reviewed their clinical, morphological, and immunohistochemical features. Another 356 patients with stage-matched conventional GC (cGC) were enrolled as a control group. We further surveyed CLDN18.2 expression by immunohistochemistry (IHC) in 51 AFPGC tissues and explained its association with the clinicopathological parameters of AFPGC.ResultsOur results showed that AFPGC was a unique GC type with elevated serum alpha-fetoprotein (AFP), which was a predictor of a worse prognosis. AFPGC showed typical morphological features and positive staining of at least 1 hepatocytic or enteroblastic marker. The expression rate of CLDN18.2 was low, with a positivity rate of 21.6%, which was much lower than that observed in cGC tissues (38.5%). A significant correlation was found between CLDN18.2 expression and the differentiation of AFPGC. CLDN18.2 expression was negatively correlated with the serum AFP level of AFPGC. We also found that AFPGC with a hepatoid type (HPT) component showed a significantly lower CLDN18.2 expression than those without.ConclusionsThis study demonstrated that CLDN18.2 was significantly decreased in AFPGC and was negatively correlated with the patient’s preoperative serum AFP level. The negative correlation between AFP and CLDN18.2 could be explained by retro-differentiation of AFPGC. Special treatment strategies might be needed for this unique tumor type. 相似文献
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Frank Ulrich Weiss Nico Hesselbarth Andrea Párniczky Dora Mosztbacher Felix Lämmerhirt Claudia Ruffert Peter Kovacs Sebastian Beer Katharina Seltsam Heidi Griesmann Richard Böhme Tom Kaune Marcus Hollenbach Hans-Ulrich Schulz Peter Simon Julia Mayerle Markus M. Lerch Giulia Martina Cavestro Jonas Rosendahl 《Pancreatology》2018,18(5):477-481
Background/Objectives
Acute pancreatitis (AP) is one of the most common gastrointestinal disorders often requiring hospitalization. Frequent aetiologies are gallstones and alcohol abuse. In contrast to chronic pancreatitis (CP) few robust genetic associations have been described. Here we analysed whether common variants in the CLDN2-MORC4 and the PRSS1-PRSS2 locus that increase recurrent AP and CP risk associate with AP.Methods
We screened 1462 AP patients and 3999 controls with melting curve analysis for SNPs rs10273639 (PRSS1-PRSS2), rs7057398 (RIPPLY), and rs12688220 (MORC4). Calculations were performed for the overall group, aetiology, and gender sub-groups. To examine genotype-phenotype relationships we performed several meta-analyses.Results
Meta-analyses of all AP patients depicted significant (p-value?<?0.05) associations for rs10273639 (odds ratio (OR) 0.88, 95% confidence interval (CI) 0.81–0.97, p-value 0.01), rs7057398 (OR 1.27, 95% CI 1.07–1.5, p-value 0.005), and rs12688220 (OR 1.32, 95% CI 1.12–1.56, p-value 0.001). For the different aetiology groups a significant association was shown for rs10273639 (OR 0.76, 95% CI 0.63–0.92, p-value 0.005), rs7057398 (OR 1.43, 95% CI 1.07–1.92, p-value 0.02), and rs12688220 (OR 1.44, 95% CI 1.07–1.93, p-value 0.02) in the alcoholic sub-group only.Conclusions
The association of CP risk variants with different AP aetiologies, which is strongest in the alcoholic AP group, might implicate common pathomechanisms most likely between alcoholic AP and CP. 相似文献5.
目的探讨家族性低镁血症高钙尿症和肾钙质沉着症(FHHNC)的临床特征和致病基因特点。方法分析1例2月龄FHHNC女性患儿的临床资料。结果患儿血镁低,尿钙高;肾脏超声提示肾髓质回声增强;多次尿培养大肠埃希菌。基因测序显示患儿CLDN16基因2处杂合变异c.324+1GC,c.317CT(p.Ser 106 Phe)。予抗感染及25%硫酸镁、门冬氨酸钾镁、10%枸橼酸钠口服治疗,病情好转。结论 FHHNC罕见且预后差,目前除肾移植外无特殊治疗方法,基因检测有助于早期诊断。 相似文献
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Hypomagnesemia with hypercalciuria and nephrocalcinosis: case report and a family study 总被引:1,自引:0,他引:1
Tasic V Dervisov D Koceva S Weber S Konrad M 《Pediatric nephrology (Berlin, Germany)》2005,20(7):1003-1006
A 7-month-old male infant was referred for investigation after a documented febrile urinary tract infection. His past medical history was characterized by episodes of unexplained fever and mild dehydration. The ultrasound examination of his kidneys demonstrated bilateral diffuse medullary nephrocalcinosis. His serum and urine biochemistry revealed hypomagnesemia (0.4 mmol/l), hyperuricaemia (506 µmol/l), mildly increased iPTH (71 pg/ml) and hypercalciuria (16.0 mg/kg/day). The diagnosis of familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) was confirmed by mutational analysis of the CLDN16 gene, encoding paracellin-1. Sequencing displayed a homozygous Leu151Phe exchange affecting the first extracellular loop of paracellin-1. There were eight family relatives who underwent biochemical analysis, renal ultrasound and genetic investigation for CLDN16 mutations. Five of them were found to be heterozygous for the Leu151Phe mutation. Two heterozygotes (the mother and the maternal grandfather) presented with hypercalciuria. The grandfather had a history of recurrent passage of calculi. These findings point to the role of heterozygous CLDN16 gene mutations in renal pathophysiology. In conclusion, patients suspected of having FHHNC should be screened for CLDN16 mutations, especially with respect to genetic counseling. In addition, heterozygotes at risk should be clinically assessed in order to prevent renal complications of hypercalciuria. 相似文献
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Qian Niu Jiamin Liu Xiaoxiao Luo Beibei Su Xianglin Yuan 《Oncology and Translational Medicine》2021,7(3):102-107
The treatment of gastrointestinal cancer has always been a crucial research area, and targeted therapy has been receiving increasing attention. At present, the effect of targeted therapy is unsatisfactory for gastric cancer. Thus, the discovery of new targets is crucial. Claudin 18.2 (CLDN18.2), a member of the claudin family, belongs to the tight junction protein family that controls the flow of molecules between cell layers. CLDN18.2 expression has been discussed in many studies. In recent years, there have been many studies on targeted therapy with CLDN18.2-ideal monoclonal antibody 362. Furthermore, CLDN18.2-specific chimeric antigen receptor T therapy has been used for CLDN18.2-positive tumors, such as gastric and pancreatic cancers. Considerable research has been focused on CLDN18.2. CLDN18.2, a newly discovered marker for precise targeted therapy of gastric cancer, could offer new hope for the treatment of gastric cancer. 相似文献
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