The effect of CYP7B1 polymorphisms on the risk of coronary heart disease in Hainan Han population

Liang, Tiebiao; Zhang, Xianbo; Liang, Anshan; Wang, Haiqing; Wang, Qi; He, Jun; Long, Ming; Jin, Tianbo

doi:10.1186/s12920-021-01067-x

Cited by 3 publications

(3 citation statements)

References 54 publications

(58 reference statements)

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“…42 We found that rs1125970 and rs4897367 could be protective factors against CHD in people aged ≤60 years, but not in subjects aged >60 years. Similar results reported by Liang et al 43 have pointed out that CYP7B1 rs6472155 plays a risk-increasing role on CHD in individuals aged >60 years. Chen et al 44 have reported that NT5C2 rs2148198 can increase CHD risk in people aged ≤61 years.…”

Section: Discussionsupporting

confidence: 89%

Association of the L3MBTL3 rs1125970 and rs4897367 gene polymorphisms with coronary heart disease susceptibility in the Chinese population: a case-control study

Li,

Zhang,

et al. 2023

Journal of Cardiovascular Pharmacology

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Coronary heart disease (CHD) is a prevalent heart disease with the high incidence and mortality rates worldwide, and its pathogenesis is related to genetic factors. L3MBTL3 has been reported to be potentially linked to CHD susceptibility. This study aims to explore the correlation between L3MBTL3 single nucleotide polymorphisms (SNPs) and CHD risk in the Chinese population. Three SNPs (rs1125970 A/T, rs4897367 T/C, and rs2068957 A/G) in L3MBTL3 from 649 patients with CHD and 649 healthy controls were genotyped using the Agena MassARRAY platform. The relationship between SNPs and CHD risk was evaluated by logistic regression analysis. Our study indicated that rs1125970 (TT: OR = 0.76, p = 0.014) and rs4897367 (TT: OR = 0.74, p = 0.021) were related to a decreased susceptibility to CHD. Stratified analyses showed that rs1125970 could reduce the risk of CHD in males, subjects aged< 60 years, with a BMI< 24 kg/m2, and non-hypertensive patients. Rs4897367 exerted a risk-decreasing influence on CHD in non-diabetic patients. In the haplotype analysis, individuals with the Trs4897367Ars2068957 haplotype were less likely to develop CHD (OR = 0.74, p = 0.024). In summary, L3MBTL3 rs1125970 and rs4897367 were significantly correlated with a decreased susceptibility to CHD in the Chinese population.

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Section: Discussionsupporting

confidence: 89%

Association of the L3MBTL3 rs1125970 and rs4897367 gene polymorphisms with coronary heart disease susceptibility in the Chinese population: a case-control study

Li,

Zhang,

et al. 2023

Journal of Cardiovascular Pharmacology

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“…Signaling pathways include signaling by GPCR [56] and extracellular matrix organization [57] were responsible for advancement of HD. Research has shown that CBLN2 [58], MOG (myelin oligodendrocyte glycoprotein) [59], ROS1 [60], LGR6 [61], GJA5 [62], SUCNR1 [63], REN (renin) [64], VEGFC (vascular endothelial growth factor C) [65], TLR2 [66], FGF12 [67], WT1 [68], SLC22A3 [69], CSRP3 [70], PAPPA2 [71], ACAN (aggrecan) [72], SHH (sonic hedgehog signaling molecule) [73], PDC (phosducin) [74], AGTR1 [75], XDH (xanthine dehydrogenase) [76], P2RX7 [77], NTSR1 [78], SIRT2 [79], RBP4 [80], BMP2 [81], ERBB3 [82], HAS2 [83], CDH13 [84], CSMD1 [85], NR3C2 [86], EPAS1 [87], TRPC6 [88], MMP3 [89], ERAP2 [90], HLA-DRB1 [91], CD74 [92], VWF (von Willebrand factor) [93], MTTP (microsomal triglyceride transfer protein) [494], ANGPT2 [184], AKR1C3 [495], NEDD4L [496], CASP1 [497], LDB2 [498], CHRNA5 [499], CCND2 [500], BRCA2 [97], ZBTB20 [501], EFNB2 [502], CYP7B1 [503], DCLK1 [504], RBM20 [505], PLCE1 [197], protein) [94], NEDD4L [95], CASP1 [96], BRCA2 [97], EFNB2 [98], PLCE1 [99], EGFR (epidermal growth factor receptor) [100], ABCA1 [101], CRHR2 [102], RND3 [103], COMT (catechol-O-methyltransferase) [104] and SMAD9 [105] plays an important role in the pathogenesis of hypertension. Studies have revealed that NEUROD4 [106], SOX10 [107], MOG (myelin oligodendrocyte glycoprotein) [108], NR5A2 [109], GLRA3 [110], FA2H [111], SERPINA […”

Section: Discussionmentioning

confidence: 99%

“…FA2H [111], SERPINA1 [448], HOXB9 [113], TGM2 [449], LRRK2 [450], ROS1 [451], CFC1 [452], GDF3 [453], TF (transferrin) [121], RXFP1 [454], RELN (reelin) [455], HTR2C [456], MYL7 [457], DYSF (dysferlin) [458], GJA5 [459], IRX1 [460], TLL1 [461], SUCNR1 [462], KERA (keratocan) [463], TFAP2B [464], HOXA5 [465], ACSL6 [466], DSCAM (DS cell adhesion molecule) [467], MSR1 [468], REN (renin) [64], VEGFC (vascular endothelial growth factor C) [469], TLR2 [470], PCSK2 [471], FGF12 [472], SLC22A3 [142], HSPB7 [473], CSRP3 [474], KLRD1 [475], PTPRO (protein tyrosine phosphatase receptor type O) [476], IL7R [477], CUX2 [478], ACAN (aggrecan) [479], SHH (sonic hedgehog signaling molecule) [480], MEOX1 [481], AGTR1 [482], VTN (vitronectin) [483], SIRT2 [79], RBP4 [484], IL2RG [485], EPAS1 [486], CDH13 [487], TRPC6 [488], MMP3 [261], PCDHGA3 [489], FGF19 [490], TBX18 [491], HLA-DRB1 [492]. CD74 [493], VWF (von Willebrand factor) [267], MTTP (microsomal triglyceride transfer protein) [494], ANGPT2 [184], AKR1C3 [495], NEDD4L [496], CASP1 [497], LDB2 [498], CHRNA5 [499], CCND2 [500], BRCA2 [97], ZBTB20 [501], EFNB2 [502], CYP7B1 [503], DCLK1 [504], RBM20 [505], PLCE1 [197], EGFR (epidermal growth factor receptor) [276], ABCA1 [506], PDPN (podoplanin) [507], SCN4B [508], SLCO1B1 [509…”

Section: Discussionmentioning

confidence: 99%

Identification of key genes and signaling pathway in the pathogenesis of Huntington's disease via bioinformatics and next generation sequencing data analysis

Vastrad,

Vastrad

2024

Preprint

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Huntington's disease (HD) is the primary cause of progressive motor deficits, psychiatric symptoms, and cognitive impairment. The exact molecular mechanisms of HD pathogenesis are largely unknown. This investigation aims to identify the hub genes, miRNA and TFs in HD and explore their potential molecular regulatory network. Next generation sequencing (NGS) dataset (GSE105041) was extracted from the Gene Expression Omnibus (GEO) database. An integrated bioinformatics pipeline including identification of differentially expressed genes (DEGs), Gene ontology and REACTOME pathway enrichment analysis, protein-protein interaction (PPI) network and module analysis, miRNA-hub gene regulatory network analysis and TF-hub gene regulatory network analysis, and receiver operating characteristic curve (ROC) analysis were applied to identify hub genes, miRNA and TFs, and key drivers of HD pathogenesis. We identified 958 DEGs in the discovery phase, consisting of 479 up regulated genes and 479 down regulated genes. GO and REACTOME enrichment analyses of the 479 up regulated genes and 479 down regulated genes showed that they were mainly involved in multicellular organismal process, developmental process, signaling by GPCR and MHC class II antigen presentation. Further analysis of the PPI network using Cytoscape and PEWCC plugins identified 10 hub genes, including LRRK2, MTUS2, HOXA1, IL7R, ERBB3, EGFR, TEX101, WDR76, NEDD4L and COMT. Possible target miRNAs and TFs, including hsa-mir-1292-5p, hsa-mir-4521, ESRRB and SREBF1, were predicted by constructing a miRNA-hub gene regulatory network analysis and TF-hub gene regulatory network. This investigation used bioinformatics methods to explore the molecular pathogenesis of HD, and identified potential molecular markers. These molecular markers might provide novel ideas and methods for the early diagnosis, treatment, and monitoring of HD.

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A Genome-Wide Analysis of a Sudden Cardiac Death Cohort: Identifying Novel Target Variants in the Era of Molecular Autopsy

Beccacece

Abondio

Giorgetti

et al. 2023

Genes

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Sudden cardiac death (SCD) is an unexpected natural death due to cardiac causes, usually happening within one hour of symptom manifestation or in individuals in good health up to 24 h before the event. Genomic screening has been increasingly applied as a useful approach to detecting the genetic variants that potentially contribute to SCD and helping the evaluation of SCD cases in the post-mortem setting. Our aim was to identify the genetic markers associated with SCD, which might enable its target screening and prevention. In this scope, a case–control analysis through the post-mortem genome-wide screening of 30 autopsy cases was performed. We identified a high number of novel genetic variants associated with SCD, of which 25 polymorphisms were consistent with a previous link to cardiovascular diseases. We ascertained that many genes have been already linked to cardiovascular system functioning and diseases and that the metabolisms most implicated in SCD are the lipid, cholesterol, arachidonic acid, and drug metabolisms, suggesting their roles as potential risk factors. Overall, the genetic variants pinpointed herein might be useful markers of SCD, but the novelty of these results requires further investigations.

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The effect of CYP7B1 polymorphisms on the risk of coronary heart disease in Hainan Han population

Cited by 3 publications

References 54 publications

Association of the L3MBTL3 rs1125970 and rs4897367 gene polymorphisms with coronary heart disease susceptibility in the Chinese population: a case-control study

Association of the L3MBTL3 rs1125970 and rs4897367 gene polymorphisms with coronary heart disease susceptibility in the Chinese population: a case-control study

Identification of key genes and signaling pathway in the pathogenesis of Huntington's disease via bioinformatics and next generation sequencing data analysis

A Genome-Wide Analysis of a Sudden Cardiac Death Cohort: Identifying Novel Target Variants in the Era of Molecular Autopsy

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