Several genome-wide association studies of primary biliary cirrhosis (PBC) in European and Japanese origins have shown significant association of dozens of genetic loci contributive to the susceptibility of PBC. Most of the loci were related to immune response pathway. In this study, we tested whether the lipid metabolic gene HELZ2 was associated with the pathogenesis of PBC. In 586 PBC cases (358 in case 1 group and 201 in case 2 group) and 726 healthy controls of Chinese Han, six nonsynonymous SNPs were genotyped by MassArray iPLEX. The same control were used for the two groups of PBC cases. Allele frequencies were calculated by χ2 test based on 2 × 2 contingency tables. All data were analyzed using the PLINK tool set. The odds ratio (OR) and 95 % confidence interval (95 % CI) were calculated, and p values (corrected for multiple testing by Bonferroni adjustment) less than 0.05 were considered statistically significant. The A allele of rs79267778 was significantly associated with PBC (ORcombined = 4.204 [1.670–10.582], p combined = 1.87E−04). It changed the amino acid at position 1904 (NM_001037335) from Threonine (ACG) to Methionine (ATG). This site was highly conserved in mammals and predicted to be POSSIBLY DAMAGING with a score of 0.469 by PolyPhen-2. It’s further predicted that T1904 M could INCREASE the protein stability with a confidence at 25.18 % under the condition of pH 7.0 and 37 °C. The result was the first time to show evidence of the lipid metabolic gene HELZ2 related to autoimmune disease, at least in PBC of Chinese Han.

Autoimmune diseases (ADs) arise from an abnormal immune response of the body against substances and tissues normally present in the body. More than a hundred of ADs have been described in the literature so far. Although their etiology remains largely unclear, various types of ADs tend to share more associated genes with other types of ADs than with non-AD types. Here we present GAAD, a gene and AD association database. In GAAD, we collected 44,762 associations between 49 ADs and 4249 genes from public databases and MEDLINE documents. We manually verified the associations to ensure the quality and credibility. We reconstructed and recapitulated the relationships among ADs using their shared genes, which further validated the quality of our data. We also provided a list of significantly co-occurring gene pairs among ADs; with embedded tools, users can query gene co-occurrences and construct customized co-occurrence network with genes of interest. To make GAAD more straightforward to experimental biologists and medical scientists, we extracted additional information describing the associations through text mining, including the putative diagnostic value of the associations, type and position of gene polymorphisms, expression changes of implicated genes, as well as the phenotypical consequences, and grouped the associations accordingly. GAAD is freely available at http://gaad.medgenius.info.

Hepatitis B virus (HBV) is prevalent in China and screening of blood donors is mandatory. Up to now, ELISA has been universally used by the China blood bank. However, this strategy has sometimes failed due to the high frequency of nucleoside acid mutations. Understanding HBV evolution and strain diversity could help devise a better screening system for blood donors. However, this kind of information in China, especially in the northwest region, is lacking. In the present study, serological markers and the HBV DNA load of 11 samples from blood donor candidates from northwest China were determined. The HBV strains were most clustered into B and C genotypes and could not be clustered into similar types from reference sequences. Subsequent testing showed liver function impairment and increasing virus load in the positive donors. This HBV evolutionary data for China will allow for better ELISA and NAT screening efficiency in the blood bank of China, especially in the northwest region.

Background: Platelets play a crucial role in regulating coagulation. However, balancing the supply and clinical demands of platelet concentrates is a tough challenge. It is urgent to explore a novel platelet substitute with biosafety and efficacy in traumatic hemorrhage. Methods: The platelet-like PLGA-PSP nanoparticles were synthesized by covalently coupling the linear platelet-specific peptides including CBP, VBP and FMP to the active carboxyl functional group of PLGA-PEG nanoparticles. The biosafety of the platelet-like PLGA-PSP nanoparticles was assessed. Subsequently, in vitro experiments were conducted to verify the effects of PLGA-PSP nanoparticles on platelet adhesion, aggregation and activation. Furthermore, the hemostatic efficacy of PLGA-PSP nanoparticles was confirmed in the tail vein, liver and femoral artery hemorrhage of normal and thrombocytopenic mice. Results: We successfully designed and synthesized the non-toxic PLGA-PSP nanoparticles with specific hemostatic ability that significantly induced platelet adhesion and aggregation without triggering unexpected platelet activation. Moreover, the application of PLGA-PSP nanoparticles was demonstrated to effectively reduce the bleeding time and blood loss in the tail vein, liver and femoral artery of both normal and thrombocytopenic mice. Conclusion: The novel platelet-like PLGA-PSP nanoparticles present a promising therapeutic option for the rapid hemostasis of traumatic hemorrhage based on the biosafety and efficacy.