Association Between ABCA1 Gene Polymorphisms and the Risk of Hypertension in the Chinese Han Population

Ren, Yanli; Tong, Enyu; Chen, Di; Zhang, Yunheng; Xu, Liangwen; Tan, Xiaohua; Yang, Lei

doi:10.3389/fpubh.2022.878610

Cited by 5 publications

(4 citation statements)

References 41 publications

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“…To illustrate, ABCBI was reported to be associated with hypertension through dietary salt transport and retention [32]. In a study among Han Chinese, variants of ABCA1 , rs2472510 and rs2515614, were associated with hypertension, with decreased expression of ABCA1 linked with hypertension risk [33]. On the other hand, meta-analysis of 2799 cases and 6794 controls showed an association of CYP3A5 rs776746 with hypertension [34].…”

Section: Discussionmentioning

confidence: 99%

Variant rs9644568 in the intergenic region downstream of the LPL gene is associated with high LDL cholesterol levels among Filipinos

Cutiongco–de la Paz,

Nevado,

Santos

et al. 2024

Preprint

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High blood level of low-density lipoprotein cholesterol (LDL-C) is a major risk factor for cardiovascular disease. Although genetic variants linked to high LDL-C have been studied in other populations, there have been no previous studies among Filipinos. This study aims to determine the association of candidate genetic variants to high LDL-C. We performed an age- and sex-matched case-control study that compared Filipino participants with high LDL-C levels (n=60) with controls (n=60). DNA was extracted from blood samples and genotyped for candidate SNPs using a customized microarray chip. Logistic regression analyses were used to determine the composite association of genetic and clinical variables to the condition. Of the initial eleven SNPs associated with high LDL-C in univariate analyses, only the variant rs9644568 in the intergenic region downstream of the LPL gene remained significantly associated with high LDL-C levels on multiple regression analysis and variable selection after adjustment for hypertension. The G allele was observed as the risk allele in a recessive model. The variant rs9644568-G in the LPL gene was associated with high blood LDL-C levels among Filipinos. In combination with hypertension, this genetic profile may identify individuals who are susceptible to develop high LDL-C in this population.

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Section: Discussionmentioning

confidence: 99%

Variant rs9644568 in the intergenic region downstream of the LPL gene is associated with high LDL cholesterol levels among Filipinos

Cutiongco–de la Paz,

Nevado,

Santos

et al. 2024

Preprint

View full text Add to dashboard Cite

show abstract

“…These enrichment analyses were used to explore the molecular mechanisms of enriched genes involved in the occurrence and advancement of HD. Signaling pathways include signaling by GPCR [56] [99], EGFR (epidermal growth factor receptor) [100], ABCA1 [101], CRHR2 [102], RND3 [103], COMT (catechol-Omethyltransferase) [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 [112], HOXB9 [113], TGM2 [114], LRRK2 [115], ROS1 [116] NKX6-1 [141], SLC22A3 [142], CADM2 [143], FREM1 [144], TWIST2 [145], WNT16 [146], KISS1 [147], TMEM176B [148], MYL9 [149], IL7R [150], MBP (myelin basic protein) [151], GPR37 [152], ACAN (aggrecan) [153], SHH (sonic hedgehog signaling molecule) [154], HOXD9 [155], PROK1 [156], AGTR1 [157], TIE1 [158], P2RX7 [159], NTSR1 [160], VTN (vitronectin) [161], SIRT2 [162], RBP4 [163] [178], HLA-DRB1 [179], NKX2-3 [180], CD74 [92], HLA-DRA [181], VWF (von Willebrand factor)…”

Section: Discussionmentioning

confidence: 99%

“…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%

“…These enrichment analyses were used to explore the molecular mechanisms of enriched genes involved in the occurrence and advancement of HD. Signaling pathways include signaling by GPCR [56] [99], EGFR (epidermal growth factor receptor) [100], ABCA1 [101], CRHR2 [102], RND3 [103], COMT (catechol-Omethyltransferase) [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 [112], HOXB9 [113], TGM2 [114], LRRK2 [115], ROS1 [116], CD22 [117], LGR6 [118], GDF3 [119], GPR17 [120], TF (transferrin) [121], NEUROD1 [122], RELN (reelin) [123], LCP1 [124], DYSF (dysferlin) [125], LGR5 [126], SUCNR1 [127], ASCL2 [128], HOXA5 [129], MSR1 [130], REN (renin) [131], NEU4 [132], VEGFC (vascular endothelial growth factor C) [133], OLIG2 [134], SLC1A1 [135], TLR2 [136], WT1 [137], SYK (spleen associated tyrosine kinase) [138], BMP8B [139], GDF6 [140], NKX6-1 [141], SLC22A3 [142], CADM2 [143], FREM1 [144], TWIST2 [145], WNT16 [146], KISS1 [147], TMEM176B [148], MYL9 [149], IL7R [150], MBP (myelin basic protein)…”

Section: Construction Of the Mirna-hub Gene Regulatory Networkmentioning

confidence: 99%

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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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Advances in ligase-based nucleic acid amplification technology for detecting gene mutations: a review

Liu

Wang

et al. 2022

Mol Cell Biochem

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Gene mutation has been a concern for researchers because it results in genetic variations with base changes in molecular structure. Researchers continue to explore methods to detect gene mutations, which may help in disease diagnosis, medication guidance, and so on. Currently, the detection methods, such as whole-genome sequencing and polymerase chain reaction, have some limitations in terms of cost and sensitivity. Ligase (an enzyme) can recognize base mismatch as a commonly used tool in genetic engineering. Therefore, the ligase-related nucleic acid amplification technology for detecting gene mutations has become a research hotspot. In this study, the main techniques explored for detecting gene mutations included the ligase detection reaction, ligase chain reaction, rolling circle amplification reaction, enzyme-assisted polymerase chain reaction, and loop-mediated isothermal amplification reaction. This review aimed to analyze the aforementioned techniques and mainly present their advantages and disadvantages, sensitivity, specificity, cost, detection time, applications, and so on. The findings may help develop sufficient grounds for further studies on detecting gene mutations.

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Association Between ABCA1 Gene Polymorphisms and the Risk of Hypertension in the Chinese Han Population

Cited by 5 publications

References 41 publications

Variant rs9644568 in the intergenic region downstream of the LPL gene is associated with high LDL cholesterol levels among Filipinos

Variant rs9644568 in the intergenic region downstream of the LPL gene is associated with high LDL cholesterol levels among Filipinos

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

Advances in ligase-based nucleic acid amplification technology for detecting gene mutations: a review

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