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1.
Ophthalmic Genet ; 44(4): 346-351, 2023 08.
Article in English | MEDLINE | ID: mdl-37066695

ABSTRACT

PURPOSE: To comprehend the etiology of diabetic retinopathy (DR), it is crucial to clarify the genetic susceptibility factors for DR. Previous studies have reported that five single nucleotide polymorphisms (SNPs), including rs9362054 (near the CEP162 gene), rs1990145 (MRPL19), rs10519765 (FMN1), rs237025 (SUMO4) and rs767649 (MIR155HG) were associated with DR. This study was conducted to elucidate the association between the five SNPs and DR in a Chinese Han population. METHODS: A total of 957 individuals with type 2 diabetes mellitus (T2DM) including diabetes mellitus without retinopathy (DNR = 478), nonproliferative DR (NPDR = 384) and proliferative (PDR = 95) were recruited in this study. SNPs were genotyped using the Mass ARRAY MALDI-TOF system. The genotype and allele frequencies were determined using χ2 tests. For genotype and allele risk, odds ratios (OR) and 95% confidence intervals (CI) were calculated. Four genetic models (homozygous, heterozygous, dominant, and recessive) were used to further investigate the link between the five SNPs and DR. RESULTS: There was a statistically significant difference of CEP162 rs9362054 between NPDR and DNR (P = .027, OR = 1.26, 95%CI = 1.03-1.54) and a significant association of SUMO4 rs237025 detected between PDR and DNR (P = .031, OR = 1.45, 95%CI = 1.03-2.02). The association of CEP162 rs9362054 was also observed under the dominant mode (P = .03, OR = 1.35, 95%CI = 1.03-1.77). The association of SUMO4 rs237025 was found under the heterozygous model (P = .03, OR = 1.68, 95%CI = 1.06-2.69) and the dominant model (P = .02, OR = 1.70, 95%CI = 1.08-2.67). No associations of the other three SNPs with NPDR and PDR were detected when compared with DNR under these genetic models. CONCLUSIONS: This study showed that rs9362054 and rs237025 were associated with NPDR and PDR when compared with DNR, suggesting that SUMO4 may be involved in the development of PDR, while CEP162 may be associated with NPDR.


Subject(s)
Diabetes Mellitus, Type 2 , Diabetic Retinopathy , Humans , Diabetes Mellitus, Type 2/complications , Diabetes Mellitus, Type 2/genetics , Diabetic Retinopathy/genetics , Diabetic Retinopathy/complications , East Asian People , Gene Frequency , Polymorphism, Single Nucleotide
2.
Exp Ther Med ; 23(6): 426, 2022 Jun.
Article in English | MEDLINE | ID: mdl-35607377

ABSTRACT

Alzheimer's disease (AD) is a progressive neurodegenerative dementia with the key pathological hallmark of amyloid deposits that may induce mitochondrial dysfunction. Ginkgolide K (GK) has been proven to have neuroprotective effects. The present study sought to explore the neuroprotective effect of GK through regulation of the expression of mitochondrial Ca2+ uniporter (MCU) in the pathology of AD. SH-SY5Y cells were cultured and the expression of MCU was enhanced by transfection of MCU recombinant vectors or knockdown by MCU small interfering RNA. The cells were treated with GK and amyloid ß (Aß). Thereafter, the effects of GK, MCU expression and Aß on viability and apoptosis of SH-SY5Y cells were examined via a WST-1 assay, flow cytometry and Caspase-3/8 activity assays, respectively. The effects of GK, MCU expression and Aß on the calcium levels in mitochondria were also examined. The regulatory effect of GK on MCU expression was examined by reverse transcription-quantitative PCR and western blot analysis. Furthermore, APP/PS1 mice received supplementation with GK and their cognitive ability was then examined through water maze tests, while the expression of MCU was examined using immunohistochemistry. The results indicated that enhancing the expression of MCU inhibited cell viability and promoted apoptosis. GK protected cells from amyloid-induced cytotoxicity by promoting cell viability and preventing cell apoptosis. The neuroprotective effect of GK was abolished when MCU expression was knocked down. GK decreased the expression of MCU in vitro and downregulation of MCU decreased the calcium level in mitochondria. Treatment with GK in APP/PS1 mice downregulated the expression of MCU in the brains and alleviated cognitive impairment. In conclusion, the present study demonstrated that the administration of GK protected neurons by preventing apoptosis. Furthermore, the neuroprotective effect of GK in neuronal cells was indicated to be related to the inhibition of MCU expression. Therefore, administration of GK may be a promising strategy for treating AD.

3.
Medicine (Baltimore) ; 100(48): e28061, 2021 Dec 03.
Article in English | MEDLINE | ID: mdl-35049226

ABSTRACT

BACKGROUNDS: Non-small-cell lung cancer (NSCLC) is the most common type of lung cancer with extremely high morbidity and mortality. OBJECTIVE: To evaluate the diagnostic value of the blood miR-148/152 family to NSCLC by meta-analysis. METHODS: PubMed, Embase (via Ovid), The Cochrane Library, web of science, and Chinese National Knowledge Infrastructure were retrieved using miR-148, miR-152, and NSCLC as search terms for studies about miR-148/152 family in the diagnosis of NSCLC, the quality assessment of diagnostic accuracy studies was adopted to evaluate the quality of literature, STATA 12.0 and Meta-Disc 1.4 were used to conduct meta-analysis and to probe the clinical utility (with plotting the Fagan Nomogram). RESULTS: A total 2145 cases in 8 trials published in 4 studies finally enrolled for final analysis. The area under the curve of the summary receiver operating characteristic was 0.87 [0.83-0.89], the pooled sensitivity was 0.79 [0.74, 0.83], the pooled specificity was 0.81 [0.76, 0.85] and the diagnosis odds ratio was 15.53 [10.88-22.17], the integrated positive likelihood ratio was 4.1 [3.30, 5.20] and the integrated negative likelihood ratio was 0.27 [0.22, 0.33]. CONCLUSION: Current evidence indicated that miR-148/152 family might be served as novel non-invasive diagnostic biomarkers for NSCLC diagnosis with good sensitivity and specificity. it still needs more research with high quality, large sample sizes, and multiple centers for further verification.


Subject(s)
Carcinoma, Non-Small-Cell Lung/diagnosis , Lung Neoplasms/diagnosis , MicroRNAs/genetics , Carcinoma, Non-Small-Cell Lung/genetics , Humans , Lung Neoplasms/genetics , ROC Curve , Sensitivity and Specificity
4.
Medicine (Baltimore) ; 94(50): e2164, 2015 Dec.
Article in English | MEDLINE | ID: mdl-26683925

ABSTRACT

The issue of the clinical appropriateness of blood transfusion has become a focus of transfusion medicine worldwide. In China, irrational uses of blood have often been reported in recent years. However, to date there lacks a systematic review of the rational uses of blood. This study aimed to determine the clinical appropriateness of blood transfusion in China. We searched PubMed, Web of Science, the Cochrane Library, China National Knowledge Infrastructure (CNKI), China Science and Technology Journal Database, WanFang Database, and Chinese BioMedical Literature Database, and the retrieval cut-off date was June 31, 2015. SPSS 17.0 and MetaAnalyst 3.13 were employed as the statistics tools in this review. A pooled rate of clinical inappropriateness of transfusion was analyzed by DerSimonian-Laird method. In this study, a total of 39 observational studies were included, which related to 75,132 cases of blood transfusion. According to the meta-analysis results, the overall incidence of clinical inappropriateness of transfusion in China was estimated to be 37.3% (95% confidence interval [CI] [32.1, 42.8]). The subgroup analyses revealed that the pooled rates of clinical inappropriateness of transfusion of plasma, red blood cells (RBCs), cryoprecipitate, and platelets were 56.3% (95% CI [45.8, 66.2]), 30.9% (95% CI [27.1, 35.0]), 25.2% (95% CI [13.2, 42.7]), and 14.1% (95% CI [8.8, 21.9]), respectively. However, the pooled incidence of inappropriateness of transfusion in operative departments was 47.5% (95% CI [36.8, 58.3]), which was significantly higher than that in nonoperative departments, 25.8% (95% CI [18.7, 34.4], P < 0.05). The overall rates of inappropriate use were 36.7% (95% CI [30.2, 43.6]) in major cities and 37.5% (95% CI [31.2, 44.3]) in other cities, respectively; there was no statistically significant difference (P > 0.05). In conclusion, China has suffered from a disadvantage in the clinical appropriateness of blood transfusion, especially in plasma and RBC use. In future, comprehensive measures should be implemented in order to improve the clinical appropriateness of blood transfusion.


Subject(s)
Blood Transfusion/statistics & numerical data , Blood Transfusion/standards , Practice Patterns, Physicians'/statistics & numerical data , Practice Patterns, Physicians'/standards , Blood Component Transfusion , China , Humans , Observational Studies as Topic , Quality of Health Care
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