Résumé
Objectives: Gene-environment interactions increase the risk of psychosis. The objective of this study was to investigate gene-gene and gene-environment interactions in psychosis, including single nucleotide variants (SNVs) of dopamine-2 receptor (D2R), N-methyl-d-aspartate receptor (NMDAR), and cannabinoid receptor type 1 (CB1R), lifetime cannabis use, and childhood trauma. Methods: Twenty-three SNVs of genes encoding D2R (DRD2: rs1799978, rs7131056, rs6275), NMDAR (GRIN1: rs4880213, rs11146020; GRIN2A: rs1420040, rs11866328; GRIN2B: rs890, rs2098469, rs7298664), and CB1R (CNR1: rs806380, rs806379, rs1049353, rs6454674, rs1535255, rs2023239, rs12720071, rs6928499, rs806374, rs7766029, rs806378, rs10485170, rs9450898) were genotyped in 143 first-episode psychosis patients (FEPp) and 286 community-based controls by Illumina HumanCoreExome-24 BeadChip. Gene-gene and gene-environment associations were assessed using nonparametric Multifactor Dimensionality Reduction software. Results: Single-locus analyses among the 23 SNVs for psychosis and gene-gene interactions were not significant (p > 0.05 for all comparisons); however, both environmental risk factors showed an association with psychosis (p < 0.001). Moreover, gene-environment interactions were significant for an SNV in CNR1 and cannabis use. The best-performing model was the combination of CNR1 rs12720071 and lifetime cannabis use (p < 0.001), suggesting an increased risk of psychosis. Conclusion: Our study supports the hypothesis of gene-environment interactions for psychosis involving T-allele carriers of CNR1 SNVs, childhood trauma, and cannabis use.
Résumé
Objective:To identify a novel desmoplakin(DSP)gene variants which associated with the risk of prostate cancer in Northern Chinese.Methods:Analyzing RNA-Seq data of tumor-normal pairs from 10 Northern Chinese cases with prostate cancer, 26 candidate single-nucleotide variants(SNVs)in tumor mRNA with potential biological significance were screened.The genotyping and association analysis of these variants were performed in the peripheral blood genomic DNA from 245 Northern Chinese individuals with prostate cancer and 100 matched controls by using Sequenom MassArray System.Results:We identified that two previously unrecognized SNVs CHST12 rs12536223 C>T( P=0.033, OR=2.730, 95% CI: 1.046-7.097)and DSP rs28763961 A>T( P=0.030, OR=0.55, 95% CI: 0.315-0.948)were associated with prostate cancer.Carriers of rs28763961T allele versus carriers of rs28763961A allele showed a higher DSP expression in tumor tissue( P=0.036)and lower total prostate-specific antigen(PSA)level( P=0.007)in peripheral blood. Conclusions:rs12536223 and rs28763961 are associated with prostate cancer in Northern Chinese.The carrier status of rs28763961T allele decreases the risk of prostate cancer.
Résumé
species and their corresponding medicinal slices have been extensively used as traditional Chinese medicine (TCM) in many Asian countries. However, it is extremely difficult to identify species based on their morphological and chemical features. In this study, the plastomes of were used as a model system to investigate the hypothesis that plastomic mutational hotspot regions could provide a useful single nucleotide variants (SNVs) resource for authentication studies. We surveyed the plastomes of 17 species, including the newly sequenced plastome of . A total of 19 SNVs that could be used for the authentication of were detected. On the basis of this comprehensive comparison, we identified the four most informative hotspot regions in the plastome that encompass to , to , to and to . Furthermore, to established a simple and accurate method for the authentication of and its medicinal slices, a total of 127 samples from 20 species including their corresponding medicinal slices (Fengdous) were used in this study. Our results suggest that and its medicinal slices can be rapidly and unequivocally identified using this method that combines real-time PCR with the amplification refractory mutation system (ARMS).