Many schizophrenia susceptibility loci have been identified through genome-wide association studies (GWASs) in European populations. However, until recently, schizophrenia GWASs in non-European populations were limited to small sample sizes and have yielded few loci associated with schizophrenia. To identify genetic risk variations for schizophrenia in the Han Chinese population, we performed a two-stage GWAS of schizophrenia comprising 4384 cases and 5770 controls, followed by independent replications of 13 single-nucleotide polymorphisms in an additional 4339 schizophrenia cases and 7043 controls of Han Chinese ancestry. Furthermore, we conducted additional analyses based on the results in the discovery stage. The combined analysis confirmed evidence of genome-wide significant associations in the Han Chinese population for three loci, at 2p16.1 (rs1051061, in an exon of VRK2, P=1.14 × 10, odds ratio (OR)=1.17), 6p22.1 (rs115070292 in an intron of GABBR1, P=4.96 × 10, OR=0.77) and 10q24.32 (rs10883795 in an intron of AS3MT, P=7.94 × 10, OR=0.87; rs10883765 at an intron of ARL3, P=3.06 × 10, OR=0.87). The polygenic risk score based on Psychiatric Genomics Consortium schizophrenia GWAS data modestly predicted case-control status in the Chinese population (Nagelkerke R: 1.7% ~5.7%). Our pathway analysis suggested that neurological biological pathways such as GABAergic signaling, dopaminergic signaling, cell adhesion molecules and myelination pathways are involved in schizophrenia. These findings provide new insights into the pathogenesis of schizophrenia in the Han Chinese population. Further studies are needed to establish the biological context and potential clinical utility of these findings.

A high mortality rate of approximately 20% in pregnant women with hepatitis E has been reported in previous studies. However, other studies showed no difference between pregnant and nonpregnant women in the severity of hepatitis E. To determine the effects of HEV infection on pregnancy, we successfully established HEV infection in six pregnant rabbits (PR) and six nonpregnant rabbits (NPR) with a rabbit HEV isolate, taking three PR and one NPR without HEV infection as controls. Tests for HEV RNA by RT-PCR, anti-HEV antibodies by ELISA and HEV antigen via immunohistochemistry and histopathology were carried out. Two of six infected PR miscarried and three of the remaining four PR died which may be attributed to severe liver necrosis caused by HEV infection. Moreover, vertical transmission was found to be associated with the replication of HEV in placenta, indicated by the presence of HEV RNA and antigen in placenta from the infected PR. Our findings strongly suggest that HEV infection could lead to adverse outcomes in pregnancy and vertical transmission, suggesting the necessity for pregnant women at risk of HEV infection to be vaccinated.

Apoptosis is a genetically determined cell suicide program. Mitochondria play a central role in this process and various molecules have been shown to regulate apoptosis in this organelle. In the present study, we firstly identified that protein tyrosine phosphatase interacting protein 51 (PTPIP51) is a novel mitochondrial protein, which may induce apoptosis in HEK293T and HeLa cell lines. PTPIP51 transfection resulted in the externalization of phosphatidylserine (PS), activation of caspase-3, cleavage of PARP, and condensation of nuclear DNA. Further investigation revealed that PTPIP51 over-expression caused a decrease in mitochondrial membrane potential and release of cytochrome c, suggesting that it may be involved in a mitochondria/cytochrome c mediated apoptosis pathway. We also found that a putative TM domain near the N terminus of PTPIP51 is required for its targeting to mitochondria, as evidenced by the finding that deletion of the PTPIP51 TM domain prevented the protein's mitochondiral localization. Furthermore, this deletion significantly influenced the ability of PTPIP51 to induce apoptosis. Taken together, the results of the present study suggest that PTPIP51 is a mitochondrial protein with apoptosis-inducing function and that the N-terminal TM domain is required for both the correct targeting of the protein to mitochondria and its apoptotic functions.

The aim of this study was to further investigate the prevalence of infection and genotype of hepatitis E virus (HEV) among different species of animals, people whose works are related to pigs and the general population in the suburb of Beijing, China. Serum and faecal samples were collected from 10 animal species and humans. Anti-HEV was detected by enzyme immunoassays (EIA); HEV RNA was amplified by reverse transcription-nested polymerase chain reaction (RT-nPCR) method. PCR products were cloned and sequenced. The isolated swine HEV sequences were analysed phylogenetically. The positive rates of serum anti-HEV in swine, cattle, milk cow, horse, sheep, donkey, dog, duck, chicken, pig farm workers and slaughterhouse workers, and general population were 81.17% (802/988), 25.29% (66/261), 14.87% (40/269), 14.29% (40/280), 9.30% (53/514), 0 (0/25), 0 (0/20), 2.53% (8/316), 3.03% (7/231), 58.73% (37/63), 35.87% (66/184) and 20.06% (538/2682), respectively. The anti-HEV prevalence in adult swine (≥ 6 months) and younger swine (≤ 3 months) was 91.49% (591/646) and 61.7% (211/342), respectively. The positive rate of HEV RNA in young swine faeces was 47.94% (93/194). All 93 isolates from the younger swine shared 87.8-100% nucleotide homology with each other and had identities of 75.6-78.9%, 73.9-76.1%, 76.4-80.6% and 83.1-95.0% with the corresponding regions of genotypes 1-4 HEV, respectively. Phylogenetic analysis showed that all HEV isolates belong to genotype 4, subgenotype 4d. These results suggest a potential risk of zoonotic transmission of HEV from younger swine to farmers who rear pigs.