Africa, the ancestral home of all modern humans, is the most informative continent for understanding the human genome and its contribution to complex disease. To better understand the genetics of schizophrenia, we studied the illness in the Xhosa population of South Africa, recruiting 909 cases and 917 age-, gender-, and residence-matched controls. Individuals with schizophrenia were significantly more likely than controls to harbor private, severely damaging mutations in genes that are critical to synaptic function, including neural circuitry mediated by the neurotransmitters glutamine, γ-aminobutyric acid, and dopamine. Schizophrenia is genetically highly heterogeneous, involving severe ultrarare mutations in genes that are critical to synaptic plasticity. The depth of genetic variation in Africa revealed this relationship with a moderate sample size and informed our understanding of the genetics of schizophrenia worldwide.
Background Serum amyloid A (SAA), interleukin‐6 (IL‐6) and neutrophil‐to‐lymphocyte ratio (NLR) play critical roles in inflammation and are used in clinical laboratories as indicators of inflammation‐related diseases. We aimed to provide potential laboratory basis for auxiliary distinguishing coronavirus disease (COVID‐19) by monitoring above indicators. Methods A total of 84 patients with confirmed COVID‐19 were enrolled in the study. Baseline characteristics and laboratory results were collected and analyzed. Receiver operating characteristic (ROC) curve analysis was used to combined detection of SAA and IL‐6 in patients with COVID‐19, and independent risk factors for severity of COVID‐19 were assessed by using binary logistic regression. Results The main clinical symptoms of patients with COVID‐19 were fever (98.8%), fatigue (61.9%), and dry cough (58.3%). SAA, IL‐6, and NLR were significantly higher in patients with COVID‐19 (all P < .001), and compared with nonsevere patients, three indicators of severe patients were significantly elevated. Besides, combined detection of SAA and IL‐6 better separates healthy people from patients with COVID‐19 than detection of SAA or IL‐6 alone. In addition, elevated SAA, IL‐6, and NLR can be used as independent variables for predicting the severity of patients with COVID‐19. Conclusion Serum amyloid A and IL‐6 could be used as addition parameters to helping the distinguish of patients with COVID‐19 from healthy people, and can provide potential basis for separating patients with nonsevere and severe clinical signs.
Caspase-3, caspase-7, and caspase-8 are important caspases in the apoptosis pathway and play an important role in the development and progression of cancer. We examined the association between genetic variants in the caspase-3, caspase-7, and caspase-8 genes and risk for endometrial cancer among Chinese women. Genotypes for 1,028 women with endometrial cancer and 1,003 healthy controls were determined with the Affymetrix MegAllele Targeted Genotyping System and Molecular Inversion Probe method. Of 35 selected single-nucleotide polymorphisms, four in the caspase-7 gene were in high linkage disequilibrium (rs11593766, rs3124740, rs11196445, and rs11196418) and associated with the risk for endometrial cancer. The AA genotype of rs11196418 [odds ratio, 0.36; 95% confidence interval (95% CI), 0.14-0.94] and the G allele of rs11593766 were associated with reduced risk (odds ratio of 0.75 and 95% CI of 0.59-0.96 for carriers of one G allele; odds ratio of 0.70 and 95% CI of 0.24-2.03 for carriers of two G alleles). The AA genotype of rs11196445 (odds ratio, 1.74; 95% CI, 0.99-3.05), the CC genotype of rs3124740 (odds ratio, 1.36; 95% CI, 1.06-1.75), and the GG genotype of rs10787498 in the caspase-7 gene (odds ratio, 1.90; 95% CI, 1.16-3.11) were associated with increased risk compared with homozygotes of the major alleles. The gene-disease association seemed to be more pronounced among premenopausal women, although tests for multiplicative interaction between genes and menopausal status failed to reach statistical significance. The GG genotype of rs2705901 in the caspase-3 gene was significantly associated with increased cancer risk compared with the CC genotype (odds ratio, 2.25; 95% CI, 1.03-4.95). No association was observed between polymorphisms of the caspase-8 gene and risk for endometrial cancer. These findings suggest that genetic variants in caspase-3 and caspase-7 may play a role in endometrial cancer susceptibility. (Cancer Epidemiol Biomarkers Prev 2009;18(7): 2114 -22)
The results of meta-analysis indicate that Aidi Injection may have adjuvant therapeutic effects in treatment of NSCLC patients, but the sample size is too small and with poor quality, and the existence of publication bias is found.The effects of Aidi Injection need to be confirmed by large multicenter randomized controlled trials.
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