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The T‐cell immunoglobulin mucin (TIM) gene family encodes receptors on T‐cells that regulate Th1‐ and Th2‐cell‐mediated immunity. Recently published data implied differential expression of human TIM molecules by mononuclear cells in cerebrospinal fluid of patients with multiple sclerosis (MS) and might therefore be involved in different phases of the pathogenesis of MS. The purpose of this study was...
Minor histocompatibility antigens (MiHAgs), such as HA‐1 and HA‐2, are the main targets of immune responses after allogeneic stem cell transplantation (SCT). HA‐1 and HA‐2 are two hematopoietic system‐restricted antigens encoded, respectively, by HMHA1 and MYO1G genes. In order to estimate their frequencies in Tunisians, we performed a molecular‐based allele analysis for 160 healthy and unrelated...
The aim of this study was to investigate the role of the IL‐6−174G/C gene polymorphism in susceptibility/resistance to Trypanosoma cruzi infection in two independent cohorts from Colombia and Peru. We determined the IL‐6−174G/C genotypes in a sample of 399 seronegative individuals and 317 serologically positive patients from Colombia and Peru. All individuals are from regions where T. cruzi infection...
The protein tyrosine phosphatase nonreceptor type 22 (PTPN22) gene is expressed in hematopoietic tissue and peripheral blood mononuclear cells including natural killer (NK) cells. The rs2476601 single nucleotide polymorphism (SNP) in the PTPN22 gene is an important susceptibility marker for autoimmunity but its role in NK cell biology is not yet clear. The aim of the current study was to evaluate...
Acne vulgaris is a common chronic inflammatory skin disease of multifactorial origin. The aim of this study was to clarify whether known polymorphisms of the interleukin‐1A (IL1A) and IL1RN genes play a role in the pathogenesis of acne vulgaris. A positive association was found between the minor T allele of the IL1A +4845(G>T) single nucleotide polymorphism (SNP) and acne, whereas no association...
A novel non‐synonymous (Gly307Ser) variant, rs763361, of the CD226 gene on chromosome 18q22 was recently shown to be associated with multiple autoimmune diseases. Taking into consideration that different autoimmune diseases may share some common pathogenic pathways, in this study we performed case–control studies to assess any genetic linkage with systemic lupus erythemtosus (SLE). An association...
Platelet endothelial cell adhesion molecule 1 (PECAM‐1/CD31) is one of the human minor histocompatibility antigens that are the main targets of alloreactive T‐cells after hematopoietic stem cells or solid organs transplantation. In order to investigate its polymorphism in Tunisians, three single nucleotide polymorphisms (SNPs) (rs668, rs12953 and rs1131012) were selected to perform an allele and haplotype...
Sarcoidosis is a granulomatous systemic disorder most often affecting the lung. Pulmonary fibrosis develops in approximately 10%–15% of patients with sarcoidosis. The human gene GREM1 encodes gremlin, a member of the bone morphogenetic protein antagonist family. Bone morphogenetic proteins are essential for the maintenance of tissue homeostasis and regeneration after injury. We examined associations...
Polymorphisms in the central major histocompatibility complex (MHC) (particularly TNF and adjacent genes) associate with several immunopathological diseases and with susceptibility to pneumonia. The MHC is characterised by strong linkage disequilibrium (LD), so identification of loci affecting disease must be based on haplotypes. We have defined 31 tumour necrosis factor (TNF) block haplotypes (denoted...
A functional variant in the Fc receptor‐like 3 (FCRL3) gene is associated with the susceptibility to several autoimmune diseases. In this study, we examined whether the FCRL3 is associated with susceptibility to primary biliary cirrhosis (PBC) by comparing the two different ethnic groups, Japanese and Italians. We enrolled 232 patients with PBC and 230 controls in Japanese, and 216 PBC and 180 controls...
To examine the genetics of susceptibility to primary biliary cirrhosis (PBC), genome‐wide association studies GWAS have been performed in patients of European ancestry and have shown the significant associations of IL12‐related pathways, SPIB, IRF5‐TNPO3, and 17q12‐21. We tested whether these findings could be extended to a Japanese cohort, 303 Japanese PBC and 298 controls. We failed to detect significant...
Multiple sclerosis (MS) patients, with a second autoimmune disease after lymphocyte depletion, had elevated serum IL‐21 before and after treatment which correlated to IL21 genotypes. In addition, the IL21 gene has been associated to several other autoimmune diseases. However, in a Spanish population there was no association to MS. Here, in a Swedish cohort (2090 MS cases and 1732 controls) 12 single...
The novel allele HLA‐A*68:66 differs from HLA‐A*68:01: 01:01 by a synonymous single nucleotide exchange at position 102 (C→T) and three non‐synonymous exchanges at position 257 (G→A), position 259 (A→G) and position 261 (C→G) in exon 2.
Polymorphic variants of the IL2RA gene, which encodes high‐affinity alpha subunit (CD25) of the interleukin‐2 receptor, were recently found to affect the risk of several autoimmune disorders. This study was aimed to investigate the association of selected IL2RA polymorphisms (rs11594656, rs3118470, rs2104286 and rs7093069) with type 1 diabetes (T1D) in a Polish cohort comprising 445 patients and 671...
rs12979860 in interleukin 28B (IL28B) gene is associated with response to interferon‐α therapy and natural viral clearance in hepatitis C. The role of this polymorphism is less known in hepatitis B virus (HBV) infection. We evaluated whether rs12979860 was associated with outcomes of HBV infection. There were 651 individuals with persistent infection (387 with liver cirrhosis, 264 without cirrhosis)...
Recently Chu et al. conducted a genome‐wide association study in a Chinese Han population and identified two novel Graves' disease (GD) susceptibility loci within 4p14 (rs6832151) and 6q27 (rs9355610). Our purpose was to replicate these associations in a Polish Caucasian population. We analyzed rs6832151 and rs9355610 genotypes in a case‐control study based on 560 GD patients and 1475 unrelated controls...
Recently Chu et al. conducted a two‐stage genome wide association study in Chinese that identified a novel X‐linked Graves' disease (GD) susceptibility marker at rs3827440 – a nonsynonymous (P162S) nucleotide transition (519C<T) within G protein‐coupled receptor 174 (GPR174) gene. We aimed to replicate this finding in Caucasians. Using the TaqMan approach we typed rs3827440 in 560 GD patients from...
A genome‐wide association study (GWAS) suggested that variants on chromosome 17q21 were associated with childhood‐onset asthma in white populations. Two replication studies had been conducted in southern Han Chinese population in 2009 and 2012. However, these two Chinese replication results were inconsistent. To further confirm the role of 17q21 common variants, an association study of 17q21 single...
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