OBJECTIVETo investigate whether three biallelic polymorphisms at positions -592, -819 and -1082 in the promoter region of the IL-10 gene are associated with increased incidence of severe sepsis.

METHODSThe IL-10 -592, -819 and -1082 polymorphisms were typed using polymerase chain reaction followed by digestion with the restriction enzymes RsaI, MaeIII and MnlI, respectively.

RESULTSPatients with severe sepsis were more likely to have IL-10 -1082 allele 1, compared with controls (P < 0.05). Genotype distribution of the IL-10 -1082 polymorphism significantly differed between patients and controls (P < 0.05). However, the allele frequencies and genotype distribution of the IL-10 -1082 polymorphism did not differ between surviving and dead patients (P > 0.05). No significant differences in the genotype distribution and allele frequencies of the IL-10 -592 and IL-10 -819 polymorphisms were observed between patients with severe sepsis and healthy controls, nor between surviving and dead patients (P > 0.05).

CONCLUSIONSThe polymorphism at position -1082 in the promoter region of the IL-10 gene may be associated with susceptibility to severe sepsis. In contrast, the other two highly linked IL-10 polymorphisms are not associated with incidence or the outcome of severe sepsis.

Alleles ; Disease Susceptibility ; Genetic Predisposition to Disease ; Humans ; Interleukin-10 ; genetics ; Polymorphism, Genetic ; Promoter Regions, Genetic ; Sepsis ; genetics

Systemic lupus erythematosus (SLE) is a multisystemic autoimmune disease characterized by the production of a wide range of autoantibodies, resulting in tissue damage. Although the susceptibility to SLE has been attributed to complex interactions between genetic and environmental factors, the influence of a genetic predisposition to SLE is supported by observations of familial aggregations. Family studies have found that siblings with an SLE-affected relative have a 20-fold higher risk of developing SLE compared with the general population. Here, we present a rare case of two male siblings with SLE. The clinical, laboratory, and histopathological findings of these individuals showed the characteristic features of SLE. Human leukocyte antigen (HLA) typing revealed that the brothers and their mother shared the common HLA haplotype of DRB1*1501 and DQB1*0602, which is significantly associated with disease susceptibility in both family-based and casecontrol studies. This report provides an opportunity to reveal the role of genetic factors in the development of SLE.
Autoantibodies ; Autoimmune Diseases ; Child ; Disease Susceptibility ; Genetic Predisposition to Disease ; Haplotypes ; Humans ; Leukocytes ; Lupus Erythematosus, Systemic ; Male ; Mothers ; Siblings

BACKGROUND: Graves' disease is an organ-specific autoimmune disease that is characterized by thyrotoxicosis, and this is caused by TSH receptor stimulating autoantibody. Antithyroid drugs have been a mainstay of treatment for Graves' patients. Unfortunately, over 50% of patients relapse after their first antithyroid drug treatment and the likelihood of remission cannot be foreseen. Some HLA genes are associated with disease susceptibility, but the association between HLA genes and relapse after drug withdrawal is unclear. In this study, we investigated the association between the HLA genes and the clinical parameters for predicting the clinical outcome of Graves' disease patients. METHODS: We enrolled the patients (n=191) with Graves' disease who were treated by antithyroid drug and who had previously undergone studies for their genetic susceptibility (HLA-DQB1, -DRB1). The success group included patients who maintained a euthyroid state for at least 12 months after withdrawal of drugs. The failure group was defined as the patients who relapsed within 1 year after discontinuation of drug or who could not discontinue their antithyroid drug treatment within 24 months. RESULTS: The rate of treatment failure was 75.4%. There was no significant association between the clinical outcome and the HLA genotyping. The genes that were associated with susceptibility to Graves' disease showed no association with the outcome. A few clinical parameters, such as male patients, severe thyrotoxicosis and high TSH-binding inhibitory immunoglobulin value were related to treatment failure. CONCLUSIONS: Genetic markers such as HLA-DQB1 and DRB1 can not be used, instead of the clinical parameters, to predict relapse after drug withdrawal.
Antithyroid Agents ; Autoimmune Diseases ; Disease Susceptibility ; Genetic Markers ; Genetic Predisposition to Disease ; Graves Disease* ; Humans ; Immunoglobulins ; Male ; Receptors, Thyrotropin ; Recurrence* ; Thyrotoxicosis ; Treatment Failure

Atopic myelitis (AM) is a relatively mild form of myelitis associated with allergic diathesis, and present with predominant sensory manifestations. Lhermitte's sign has been considered as a relatively non-specific clinical sign suggesting demyelinating lesion in cervical cord. Here we report a patient with recurrent AM who presented with isolated Lhermitte's sign, both in first and second attacks. This report suggests that either the diagnosis or recurrence of AM can be frequently underdiagnosed because of its predominant sensory manifestations.
Diagnosis ; Disease Susceptibility ; Humans ; Myelitis* ; Recurrence

Biomarkers ; Disease Susceptibility ; Humans ; Pneumoconiosis ; etiology

As a stable genetic marker of human, blood group is expressed in a polymorphic system in the population. Blood group and pathogens mainly produce effects through the interaction between antigens and antibodies. On the one hand, they can promote pathogen colonization, invasion or evasion of host clearance mechanism, and on the other hand, they can make some hosts less susceptible to corresponding pathogens. By exploring the molecular mechanism between the blood group system and pathogenic microorganisms, it can provide a scientific basis for the treatment of human related diseases and the development of vaccines.
Blood Group Antigens/genetics* ; Disease Susceptibility ; Humans

The study of antiviral pathways to reveal methods for the effective response and clearance of virus is closely related to understanding interferon (IFN) signaling and its downstream target genes, IFN-stimulated genes. One of the key antiviral factors induced by IFNs, 2'-5' oligoadenylate synthase (OAS), is a well-known molecule that regulates the early phase of viral infection by degrading viral RNA in combination with RNase L, resulting in the inhibition of viral replication. In this review, we describe OAS family proteins from a different point of view from that of previous reviews. We discuss not only RNase L-dependent (canonical) and -independent (noncanonical) pathways but also the possibility of the OAS family members as biomarkers for various diseases and clues to non-immunological functions based on recent studies. In particular, we focus on OASL, a member of the OAS family that is relatively less well understood than the other members. We will explain its anti- and pro-viral dual roles as well as the diseases related to single-nucleotide polymorphisms in the corresponding gene.
2',5'-Oligoadenylate Synthetase/*genetics/*metabolism ; Animals ; Biomarkers ; *Disease Susceptibility ; Endoribonucleases/metabolism ; Genetic Predisposition to Disease ; Humans ; Multigene Family ; Polymorphism, Single Nucleotide ; Signal Transduction

Despite the availability of numerous options for the treatment of depression, treatment-resistant depression remains common. Several patient-related and treatment-related risk factors have been identified as increasing the likelihood of nonresponsiveness to antidepressant treatment including psychiatric and physical comorbidity, the chronic subtype of depression, and treatment nonadherence. Evidence linking many cases of treatment-resistant depression with a diathesis to bipolar disorder has also emerged. This article reviews the current literature regarding the relevance of bipolarity to treatment-resistant depression, with particular attention to the prevalence of bipolarity in treatment-resistant depression.
Bipolar Disorder ; Comorbidity ; Depression ; Disease Susceptibility ; Humans ; Prevalence ; Risk Factors

Shock wave lithotripsy(SWL) has been considered as a contraindication in a patient with bleeding diathesis. However, appropriate pre-treatment made it possible recently. We present a case of ureteral stone patient with hemophilia A which was resolved successfully using SWL and this would be the first report concerning SWL in a hemophilia A patient in our country.
Disease Susceptibility ; Hemophilia A* ; Hemorrhage ; Humans ; Lithotripsy* ; Shock* ; Ureter

Aortic Aneurysm, Abdominal ; epidemiology ; Disease Susceptibility ; Humans ; Risk Factors