Systemic lupus erythematosus (SLE) is an autoimmune connective tissue disease that affects multiple organs and diminishes a patients’ quality of life. It has been suggested that interleukin 19 (IL-19) is engaged in intercellular signal transduction, which is related to the immune response and the local inflammatory reaction. Single nucleotide polymorphisms (SNPs) have been used to explore the genetic basis underlying the pathogenesis of SLE. In this study, we investigated the potential correlation between the functional IL19 SNP rs2243188 and SLE.
Single nucleotide polymorphism
Hepatocellular carcinoma (HCC) is a complex polygenic disease whose development is dependent on many genetic factors. The let-7 family, an important and widely studied microRNA family, has been shown to play an important role in the initiation and progression of HCC. In this study, we examined the possible associations between single-nucleotide polymorphisms in the promoter region of the let-7 family (rs10877887) and the susceptibility and prognosis of HCC, using a case-control research model.
As a heterogeneous group of disorders in pregnancy, many genetic factors are involved in the development of preeclampsia. The single nucleotide polymorphism (SNP) rs7579169, located on chromosome 2q14.2, has been shown to be associated with pregnancy-induced hypertension in Europeans. In this study, we examined whether the SNP rs7579169 is associated with the susceptibility to preeclampsia through a case-control research model in Han Chinese women. Genotypes of 145 patients with preeclampsia and 150 healthy pregnant subjects were identified by direct sequencing.
The aim of this study was to examine the association between polymorphisms in the interleukin-3 and -13 (IL-3 and IL-13) genes and rheumatoid arthritis (RA). In this hospital-based case-control study, we analyzed the IL-3 rs2073506 G/A, IL-3 rs40401 C/T, and IL-13 rs1800925 C/T polymorphisms in 615 RA patients and 839 controls from a Chinese Han population. Genotyping was performed using a custom-by-design 48-Plex single nucleotide polymorphism scanTM kit.
Acute rejection (AR) recurrence after liver transplantation (LT) is one of the major complications that leads to chronic graft dysfunction. It has been reported that the polymorphisms in some cytokine genes are associated with human liver allograft rejection. This study mainly investigated the associations between polymorphisms in the genes encoding interleukin-10 (IL10), transforming growth factor-b1 (TGFB1), and tumor necrosis factor-a (TNF), and the risk of AR recurrence.
Toll-like receptors (TLRs) are essential elements of the innate immune response to different infections including the infection with human immunodeficiency virus (HIV). Single nucleotide polymorphisms (SNPs) in TLRs such as TLR4 1063A/G and 1363C/T have been found to be associated with changes in CD4 count, viral load (VL), and disease progression during HIV infection. However, the association of these SNPs with the pathogenesis during HIV infection is controversial.
Despite more than a century of intensive study, the mechanisms of successful pregnancy remain unclear. Recent research suggests that NF-κB (nuclear factor kappa B) plays an important role in embryo implantation. In the current study, we aimed to identify SNPs that contribute to genetic susceptibility for recurrent implantation failure (RIF). Thus, we examined the potential associations between RIF and ten SNPs (rs28362491, rs3774932, rs1598856, rs230528, rs230521, rs3774956, rs4648055, rs3774964, rs4648068, and rs3774968) of the NF-κB gene.
Gout is the most common form of inflammatory arthritis affecting men, and current evidence suggests that genetic factors contribute to its progression. As a previous study identified that WD40 repeat protein 1 (WDR1) is associated with gout in populations of European descent, we sought to investigate its relationship with this disease in the Han Chinese population. We genotyped six WDR1 single nucleotide polymorphisms in 143 gout cases and 310 controls using Sequenom MassARRAY technology. The SPSS 16.0 software was used to perform statistical analyses.
Single nucleotide polymorphisms (SNPs) in mismatch repair genes, especially in the MLH1 gene, are closely associated with susceptibility to hereditary nonpolyposis colorectal cancer. However, few relevant findings are available regarding the association between sporadic colorectal cancer (SCRC) and SNPs of MLH1 in Chinese patients. Therefore, the present study aimed to describe the pathogenic association between three important MLH1 polymorphisms and SCRC in the Chinese population.