Query：
学者姓名：杨铁林
Refining：
Year
Type
Indexed by
Source
Complex
Co-Author
Language
Clean All
Cite：
Copy from the list or Export to your reference management。
| GB/T 7714 | Du, Mingfei , Wang, Yang , Gao, Wei -Hua et al. ASSOCIATION OF SERUM UROMODULIN AND GENETIC VARIANTS WITH BLOOD PRESSURE CHANGES, AND HYPERTENSION IN CHINESE ADULTS: RESULTS FROM TWO PROSPECTIVE COHORTS [J]. | JOURNAL OF HYPERTENSION , 2021 , 39 : E112-E112 . |
| MLA | Du, Mingfei et al. "ASSOCIATION OF SERUM UROMODULIN AND GENETIC VARIANTS WITH BLOOD PRESSURE CHANGES, AND HYPERTENSION IN CHINESE ADULTS: RESULTS FROM TWO PROSPECTIVE COHORTS" . | JOURNAL OF HYPERTENSION 39 (2021) : E112-E112 . |
| APA | Du, Mingfei , Wang, Yang , Gao, Wei -Hua , Sun, Yue , Zhang, Xiao -Yu , Zou, Ting et al. ASSOCIATION OF SERUM UROMODULIN AND GENETIC VARIANTS WITH BLOOD PRESSURE CHANGES, AND HYPERTENSION IN CHINESE ADULTS: RESULTS FROM TWO PROSPECTIVE COHORTS . | JOURNAL OF HYPERTENSION , 2021 , 39 , E112-E112 . |
| Export to | NoteExpress RIS BibTex |
Abstract ：
Genome-wide association studies (GWAS) have reproducibly associated the single nucleotide polymorphism (SNP) rs12454712 with waist-to-hip ratio adjusted for BMI (WHRadjBMI), but the functional role underlying this intronic variant is unknown. Integrative genomic and epigenomic analyses supported rs12454712 as a functional independent variant. We further demonstrated that rs12454712 acted as an allele-specific enhancer regulating expression of its located gene BCL2 by using dual-luciferase reporter assays and clustered regularly interspaced short palindromic repeats (CRISPR)-Cas9. Specifically, the rs12454712-C allele can bind transcription factor ZNF329, which efficiently elevates the enhancer activity and increases BCL2 expression. Knocking down Bcl2 in 3T3-L1 cells led to the downregulation of adipogenic differentiation marker genes and increased cell apoptosis. A significant negative correlation between BCL2 expression in subcutaneous adipose tissues and obesity was observed. Our findings illustrate the molecular mechanisms behind the intronic SNP rs12454712 for central obesity, which would be a potential and promising target for developing appropriate therapies.
Cite：
Copy from the list or Export to your reference management。
| GB/T 7714 | Dong, Shan-Shan , Zhu, Dong-Li , Zhou, Xiao-Rong et al. An Intronic Risk SNP rs12454712 for Central Obesity Acts As an Allele-Specific Enhancer To Regulate BCL2 Expression [J]. | DIABETES , 2021 , 70 (8) : 1679-1688 . |
| MLA | Dong, Shan-Shan et al. "An Intronic Risk SNP rs12454712 for Central Obesity Acts As an Allele-Specific Enhancer To Regulate BCL2 Expression" . | DIABETES 70 . 8 (2021) : 1679-1688 . |
| APA | Dong, Shan-Shan , Zhu, Dong-Li , Zhou, Xiao-Rong , Rong, Yu , Zeng, Mengqi , Chen, Jia-Bin et al. An Intronic Risk SNP rs12454712 for Central Obesity Acts As an Allele-Specific Enhancer To Regulate BCL2 Expression . | DIABETES , 2021 , 70 (8) , 1679-1688 . |
| Export to | NoteExpress RIS BibTex |
Abstract ：
Mitochondrial epigenetics is rising as intriguing notion for its potential involvement in aging and diseases, while the details remain largely unexplored. Here it is shown that among the 13 mitochondrial DNA (mtDNA) encoded genes, NADH-dehydrogenase 6 (ND6) transcript is primarily decreased in obese and type 2 diabetes populations, which negatively correlates with its distinctive hypermethylation. Hepatic mtDNA sequencing in mice unveils that ND6 presents the highest methylation level, which dramatically increases under diabetic condition due to enhanced mitochondrial translocation of DNA methyltransferase 1 (DNMT1) promoted by free fatty acid through adenosine 5'-monophosphate (AMP)-activated protein kinase (AMPK) activation. Hepatic knockdown of ND6 or overexpression of Dnmt1 similarly impairs mitochondrial function and induces systemic insulin resistance both in vivo and in vitro. Genetic or chemical targeting hepatic DNMT1 shows significant benefits against insulin resistance associated metabolic disorders. These findings highlight the pivotal role of ND6 epigenetic network in regulating mitochondrial function and onset of insulin resistance, shedding light on potential preventive and therapeutic strategies of insulin resistance and related metabolic disorders from a perspective of mitochondrial epigenetics.
Keyword ：
dehydrogenase 6 (ND6) DNA methyltransferase 1 (DNMT1) insulin resistance mitochondrial dysfunction mitochondrial NADH‐ obesity and type 2 diabetes mellitus (T2DM)
Cite：
Copy from the list or Export to your reference management。
| GB/T 7714 | Cao, Ke , Lv, Weiqiang , Wang, Xueqiang et al. Hypermethylation of Hepatic Mitochondrial ND6 Provokes Systemic Insulin Resistance [J]. | ADVANCED SCIENCE , 2021 , 8 (11) . |
| MLA | Cao, Ke et al. "Hypermethylation of Hepatic Mitochondrial ND6 Provokes Systemic Insulin Resistance" . | ADVANCED SCIENCE 8 . 11 (2021) . |
| APA | Cao, Ke , Lv, Weiqiang , Wang, Xueqiang , Dong, Shanshan , Liu, Xuyun , Yang, Tielin et al. Hypermethylation of Hepatic Mitochondrial ND6 Provokes Systemic Insulin Resistance . | ADVANCED SCIENCE , 2021 , 8 (11) . |
| Export to | NoteExpress RIS BibTex |
Abstract ：
Since the bipolar disorder (BD) signals identified by genome-wide association study (GWAS) often reside in the non-coding regions, understanding the biological relevance of these genetic loci has proven to be complicated. Transcriptome-wide association studies (TWAS) providing a powerful approach to identify novel disease risk genes and uncover possible causal genes at loci identified previously by GWAS. However, these methods did not consider the importance of epigenetic regulation in gene expression. Here, we developed a novel epigenetic element-based transcriptome-wide association study (ETWAS) that tested the effects of genetic variants on gene expression levels with the epigenetic features as prior and further mediated the association between predicted expression and BD. We conducted an ETWAS consisting of 20 352 cases and 31 358 controls and identified 44 transcriptome-wide significant hits. We found 14 conditionally independent genes, and 10 genes that did not previously implicate with BD were regarded as novel candidate genes, such as ASB16 in the cerebellar hemisphere (P = 9.29 x 10(-8)). We demonstrated that several genome-wide significant signals from the BD GWAS driven by genetically regulated expression, and NEK4 explained 90.1% of the GWAS signal. Additionally, ETWAS identified genes could explain heritability beyond that explained by GWAS-associated SNPs (P = 5.60 x 10(-66)). By querying the SNPs in the final models of identified genes in phenome databases, we identified several phenotypes previously associated with BD, such as schizophrenia and depression. In conclusion, ETWAS is a powerful method, and we identified several novel candidate genes associated with BD.
Keyword ：
bipolar disorder candidate gene epigenetic regulation gene expression prediction missing heritability
Cite：
Copy from the list or Export to your reference management。
| GB/T 7714 | Yao, Shi , Wu, Hao , Liu, Tong-Tong et al. Epigenetic Element-Based Transcriptome-Wide Association Study Identifies Novel Genes for Bipolar Disorder [J]. | SCHIZOPHRENIA BULLETIN , 2021 , 47 (6) : 1642-1652 . |
| MLA | Yao, Shi et al. "Epigenetic Element-Based Transcriptome-Wide Association Study Identifies Novel Genes for Bipolar Disorder" . | SCHIZOPHRENIA BULLETIN 47 . 6 (2021) : 1642-1652 . |
| APA | Yao, Shi , Wu, Hao , Liu, Tong-Tong , Wang, Jia-Hao , Ding, Jing-Miao , Guo, Jing et al. Epigenetic Element-Based Transcriptome-Wide Association Study Identifies Novel Genes for Bipolar Disorder . | SCHIZOPHRENIA BULLETIN , 2021 , 47 (6) , 1642-1652 . |
| Export to | NoteExpress RIS BibTex |
Abstract ：
The triangular correlation heatmap aiming to visualize the linkage disequilibrium (LD) pattern and haplotype block structure of SNPs is ubiquitous component of population-based genetic studies. However, current tools suffered from the problem of time and memory consuming. Here, we developed LDBlockShow, an open source software, for visualizing LD and haplotype blocks from variant call format files. It is time and memory saving. In a test dataset with 100 SNPs from 60 000 subjects, it was at least 10.60 times faster and used only 0.03-13.33% of physical memory as compared with other tools. In addition, it could generate figures that simultaneously display additional statistical context (e.g. association P-values) and genomic region annotations. It can also compress the SVG files with a large number of SNPs and support subgroup analysis. This fast and convenient tool will facilitate the visualization of LD and haplotype blocks for geneticists.
Keyword ：
haplotype block linkage disequilibrium VCF files visualization
Cite：
Copy from the list or Export to your reference management。
| GB/T 7714 | Dong Shan-Shan , He Wei-Ming , Ji Jing-Jing et al. LDBlockShow: a fast and convenient tool for visualizing linkage disequilibrium and haplotype blocks based on variant call format files. [J]. | Briefings in bioinformatics , 2021 , 22 (4) . |
| MLA | Dong Shan-Shan et al. "LDBlockShow: a fast and convenient tool for visualizing linkage disequilibrium and haplotype blocks based on variant call format files." . | Briefings in bioinformatics 22 . 4 (2021) . |
| APA | Dong Shan-Shan , He Wei-Ming , Ji Jing-Jing , Zhang Chi , Guo Yan , Yang Tie-Lin . LDBlockShow: a fast and convenient tool for visualizing linkage disequilibrium and haplotype blocks based on variant call format files. . | Briefings in bioinformatics , 2021 , 22 (4) . |
| Export to | NoteExpress RIS BibTex |
Abstract ：
Although more than 80 psoriasis genetic risk loci have been reported through genome-wide association studies (GWASs), the genetic mechanism of psoriasis remains unclear. To identify novel candidate genes associated with psoriasis and reveal the potential effects of genetic factors in the development of psoriasis, we conducted a transcriptome-wide association study (TWAS) based on summary statistics from GWAS of psoriasis (5175 cases and 447 089 controls) and gene expression levels from six tissues datasets (blood and skin). We identified 11 conditionally independent genes for psoriasis after Bonferroni corrections, such as the most significant genes UBLCP1 (PYFS = 2.98 × 10-16), and LCE3C (PSNSE = 9.72 × 10-12, PSSE = 6.24 × 10-12). The omnibus test identified additional 5 genes associated with psoriasis via the joint association model from multiple reference tissues. Among the 16 identified genes, 5 genes (CTSW, E1F1AD, KLRC3, FIBP, and EFEMP2) were regarded as novel genes for psoriasis. We evaluated the 16 candidate genes by querying public databases and identified 11 differentially expressed genes and 8 genes proved by the knockout mice models. Through GO enrichment analyses, we found that TWAS genes were enriched in the known GO terms associated with skin development, such as cornified envelope (P = 4.80 × 10-8) and peptide cross-linking (P = 1.50 × 10-7). Taken together, our results detected multiple novel candidate genes for psoriasis, providing clues for understanding the genetic mechanism of psoriasis.
Cite：
Copy from the list or Export to your reference management。
| GB/T 7714 | Zhu Dongli , Yao Shi , Wu Hao et al. A transcriptome-wide association study identifies novel susceptibility genes for psoriasis. [J]. | Human molecular genetics , 2021 , 31 (2) : 300-308 . |
| MLA | Zhu Dongli et al. "A transcriptome-wide association study identifies novel susceptibility genes for psoriasis." . | Human molecular genetics 31 . 2 (2021) : 300-308 . |
| APA | Zhu Dongli , Yao Shi , Wu Hao , Ke Xin , Zhou Xiaorong , Geng Songmei et al. A transcriptome-wide association study identifies novel susceptibility genes for psoriasis. . | Human molecular genetics , 2021 , 31 (2) , 300-308 . |
| Export to | NoteExpress RIS BibTex |
Abstract ：
Detecting SNPs associated with drug efficacy or toxicity is helpful to facilitate personalized medicine. Previous studies usually find SNPs associated with clinical outcome only in patients received a specific treatment. However, without information from patients without drug treatment, it is possible that the detected SNPs are associated with patients' clinical outcome even without drug treatment. Here we aimed to detect drug response SNPs based on data from patients with and without drug treatment through combing the cox proportional-hazards model and pairwise Kaplan-Meier survival analysis. A pipeline named Detection of Drug Response SNPs (DDRS) was built and applied to TCGA breast cancer data including 363 patients with doxorubicin treatment and 321 patients without any drug treatment. We identified 548 doxorubicin associated SNPs. Drug response score derived from these SNPs were associated with drug-resistant level (indicated by IC50) of breast cancer cell lines. Enrichment analyses showed that these SNPs were enriched in active epigenetic regulation markers (e.g., H3K27ac). Compared with random genes, the cis-eQTL genes of these SNPs had a shorter protein-protein interaction distance to doxorubicin associated genes. In addition, linear discriminant analysis showed that the eQTL gene expression levels could be used to predict clinical outcome for patients with doxorubicin treatment (AUC = 0.738). Specifically, we identified rs2817101 as a drug response SNP for doxorubicin treatment. Higher expression level of its cis-eQTL gene GSTA1 is associated with poorer survival. This approach can also be applied to identify new drug associated SNPs in other cancers. (C) 2021 The Author(s). Published by Elsevier B.V. on behalf of Research Network of Computational and Structural Biotechnology.
Keyword ：
Breast cancer Drug response Prognosis SNP
Cite：
Copy from the list or Export to your reference management。
| GB/T 7714 | Rong, Yu , Dong, Shan-Shan , Hu, Wei-Xin et al. DDRS: Detection of drug response SNPs specifically in patients receiving drug treatment [J]. | COMPUTATIONAL AND STRUCTURAL BIOTECHNOLOGY JOURNAL , 2021 , 19 : 3650-3657 . |
| MLA | Rong, Yu et al. "DDRS: Detection of drug response SNPs specifically in patients receiving drug treatment" . | COMPUTATIONAL AND STRUCTURAL BIOTECHNOLOGY JOURNAL 19 (2021) : 3650-3657 . |
| APA | Rong, Yu , Dong, Shan-Shan , Hu, Wei-Xin , Guo, Yan , Chen, Yi-Xiao , Chen, Jia-Bin et al. DDRS: Detection of drug response SNPs specifically in patients receiving drug treatment . | COMPUTATIONAL AND STRUCTURAL BIOTECHNOLOGY JOURNAL , 2021 , 19 , 3650-3657 . |
| Export to | NoteExpress RIS BibTex |
Abstract ：
BackgroundChildhood obesity is reported to be associated with the risk of many diseases in adulthood. However, observational studies cannot fully account for confounding factors. We aimed to systematically assess the causal associations between childhood body mass index (BMI) and various adult traits/diseases using two-sample Mendelian randomization (MR).MethodsAfter data filtering, 263 adult traits genetically correlated with childhood BMI (P<0.05) were subjected to MR analyses. Inverse-variance weighted, MR-Egger, weighted median, and weighted mode methods were used to estimate the causal effects. Multivariable MR analysis was performed to test whether the effects of childhood BMI on adult traits are independent from adult BMI.ResultsWe identified potential causal effects of childhood obesity on 60 adult traits (27 disease-related traits, 27 lifestyle factors, and 6 other traits). Higher childhood BMI was associated with a reduced overall health rating (=-0.10, 95% CI -0.13 to -0.07, P=6.26x10(-11)). Specifically, higher childhood BMI was associated with increased odds of coronary artery disease (OR=1.09, 95% CI 1.06 to 1.11, P=4.28x10(-11)), essential hypertension (OR=1.12, 95% CI 1.08 to 1.16, P=1.27x10(-11)), type 2 diabetes (OR=1.36, 95% CI 1.30 to 1.43, P=1.57x10(-34)), and arthrosis (OR=1.09, 95% CI 1.06 to 1.12, P=8.80x10(-9)). However, after accounting for adult BMI, the detrimental effects of childhood BMI on disease-related traits were no longer present (P>0.05). For dietary habits, different from conventional understanding, we found that higher childhood BMI was associated with low calorie density food intake. However, this association might be specific to the UK Biobank population.ConclusionsIn summary, we provided a phenome-wide view of the effects of childhood BMI on adult traits. Multivariable MR analysis suggested that the associations between childhood BMI and increased risks of diseases in adulthood are likely attributed to individuals remaining obese in later life. Therefore, ensuring that childhood obesity does not persist into later life might be useful for reducing the detrimental effects of childhood obesity on adult diseases.
Keyword ：
Adult outcome Causal Childhood BMI Mendelian randomization
Cite：
Copy from the list or Export to your reference management。
| GB/T 7714 | Dong, Shan-Shan , Zhang, Kun , Guo, Yan et al. Phenome-wide investigation of the causal associations between childhood BMI and adult trait outcomes: a two-sample Mendelian randomization study [J]. | GENOME MEDICINE , 2021 , 13 (1) . |
| MLA | Dong, Shan-Shan et al. "Phenome-wide investigation of the causal associations between childhood BMI and adult trait outcomes: a two-sample Mendelian randomization study" . | GENOME MEDICINE 13 . 1 (2021) . |
| APA | Dong, Shan-Shan , Zhang, Kun , Guo, Yan , Ding, Jing-Miao , Rong, Yu , Feng, Jun-Cheng et al. Phenome-wide investigation of the causal associations between childhood BMI and adult trait outcomes: a two-sample Mendelian randomization study . | GENOME MEDICINE , 2021 , 13 (1) . |
| Export to | NoteExpress RIS BibTex |
Abstract ：
Uromodulin, also named Tamm Horsfall protein, have been associated with renal function and sodium homeostasis regulation. The authors sought to examine the effects of salt intake on plasma and urinary uromodulin levels and the association of its genetic variants with salt sensitivity in Chinese adults. Eighty patients from our natural population cohort were maintained sequentially either on a usual diet for 3 days, a low-salt diet (3.0 g) for 7 days, and a high-salt diet (18.0 g) for an additional 7 days. In addition, the authors studied 514 patients of the Baoji Salt-Sensitive Study, recruited from 124 families who received the same salt intake intervention, and investigated the association of genetic variations in uromodulin gene with salt sensitivity. Plasma uromodulin levels were significantly lower on a high-salt diet than on a baseline diet (28.3 +/- 4.5 vs. 54.9 +/- 8.8 ng/ml). Daily urinary excretions of uromodulin were significantly decreased on a high-salt diet than on a low-salt diet (28.7 +/- 6.7 vs. 157.2 +/- 21.7 ng/ml). SNPs rs7193058 and rs4997081 were associated with the diastolic blood pressure (DBP), mean arterial pressure (MAP) responses to the high-salt diet. In addition, several SNPs in the uromodulin gene were significantly associated with pulse pressure (PP) response to the low-salt intervention. This study shows that dietary salt intake affects plasma and urinary uromodulin levels and that uromodulin may play a role in the pathophysiological process of salt sensitivity in the Chinese populations.
Keyword ：
gene polymorphism hypertension salt salt sensitivity uromodulin
Cite：
Copy from the list or Export to your reference management。
| GB/T 7714 | Du, Ming-Fei , Yao, Shi , Zou, Ting et al. Associations of plasma uromodulin and genetic variants with blood pressure responses to dietary salt interventions [J]. | JOURNAL OF CLINICAL HYPERTENSION , 2021 , 23 (10) : 1897-1906 . |
| MLA | Du, Ming-Fei et al. "Associations of plasma uromodulin and genetic variants with blood pressure responses to dietary salt interventions" . | JOURNAL OF CLINICAL HYPERTENSION 23 . 10 (2021) : 1897-1906 . |
| APA | Du, Ming-Fei , Yao, Shi , Zou, Ting , Mu, Jian-Jun , Zhang, Xiao-Yu , Hu, Gui-Lin et al. Associations of plasma uromodulin and genetic variants with blood pressure responses to dietary salt interventions . | JOURNAL OF CLINICAL HYPERTENSION , 2021 , 23 (10) , 1897-1906 . |
| Export to | NoteExpress RIS BibTex |
Abstract ：
Background: Uromodulin, also named Tamm Horsfall protein, has been associated with renal function and regulation of sodium homeostasis. We aimed to examine the associations of serum uromodulin levels and its genetic variants with longitudinal blood pressure (BP) changes and hypertension incidence/risk.Methods: A total of 514 participants from the original Baoji Salt-Sensitive Study cohort were genotyped to examine the associations of genetic variations in uromodulin gene with the longitudinal BP changes and the incidence of hypertension over 8 years of follow-up. In addition, 2,210 subjects from the cohort of Hanzhong Adolescent Hypertension Study were used to investigate the relationships between serum uromodulin levels and the risk of hypertension.Results: SNPs rs12917707 and rs12708631 in the uromodulin gene were significantly associated with the longitudinal BP changes over 8 years of follow-up. SNP rs12708631 was significantly associated with the incidence of hypertension over 8 years. In addition, gene-based analyses supported the associations of uromodulin gene with the longitudinal BP changes and hypertension incidence in Baoji Salt-Sensitive Study cohort. Furthermore, serum uromodulin levels in the hypertensive subjects were lower than in the normotensive subjects (25.5 +/- 1.1 vs. 34.7 +/- 0.7 ng/mL). Serum uromodulin levels decreased gradually as BP levels increased (34.6, 33.2, 27.8, and 25.0 ng/mL for subjects with normotension, high-normal, grade 1 hypertension, and grade 2 hypertension, respectively). Serum uromodulin was significantly associated with the lower risk of hypertension [0.978 (0.972-0.984)] in Hanzhong Adolescent Hypertension Study cohort.Conclusion: This study shows that uromodulin is associated with blood pressure progression and development of hypertension.
Keyword ：
blood pressure gene polymorphism hypertension longitudinal change uromodulin (UMOD)
Cite：
Copy from the list or Export to your reference management。
| GB/T 7714 | Wang, Yang , Du, Ming-Fei , Yao, Shi et al. Associations of Serum Uromodulin and Its Genetic Variants With Blood Pressure and Hypertension in Chinese Adults [J]. | FRONTIERS IN CARDIOVASCULAR MEDICINE , 2021 , 8 . |
| MLA | Wang, Yang et al. "Associations of Serum Uromodulin and Its Genetic Variants With Blood Pressure and Hypertension in Chinese Adults" . | FRONTIERS IN CARDIOVASCULAR MEDICINE 8 (2021) . |
| APA | Wang, Yang , Du, Ming-Fei , Yao, Shi , Zou, Ting , Zhang, Xiao-Yu , Hu, Gui-Lin et al. Associations of Serum Uromodulin and Its Genetic Variants With Blood Pressure and Hypertension in Chinese Adults . | FRONTIERS IN CARDIOVASCULAR MEDICINE , 2021 , 8 . |
| Export to | NoteExpress RIS BibTex |
Export
| Results： |
Selected to |
| Format： |
