CYP27B1 Gene Polymorphism rs10877012 in Patients Diagnosed with Colorectal Cancer

Latacz, Maria; Snarska, Jadwiga; Kostyra, Elżbieta; Wroński, Konrad; Fiedorowicz, Ewa; Savelkoul, H.F.J.; Jarmołowska, Beata; Płomiński, Janusz; Grzybowski, Roman; Cieślińska, Anna

doi:10.3390/nu12040998

Cited by 12 publications

(9 citation statements)

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“…And GT genotype and dominant model of rs10877012 were protective factors for NH. The rs10877012 is located in the promotor region of the CYP27B1 gene, which might impact transcription and translation processes[ 33 ]. The rs12785878 is located in 8 kilobases upstream from the transcription initiation site of DHCR7 and in an intron of NADSYN1 [ 34 ].…”

Section: Discussionmentioning

confidence: 99%

Vitamin D metabolic pathway genes polymorphisms and vitamin D levels in association with neonatal hyperbilirubinemia in China: a single-center retrospective cohort study

et al. 2023

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Background Neonatal hyperbilirubinemia (NH) is a major cause of hospitalization after birth. Previous studies indicated that vitamin D deficiency might play an important role in NH susceptibility, but the results were controversial. Meanwhile, there has been limited description of the association between vitamin D related genes single nucleotide polymorphisms (SNP) and NH susceptibility. We aimed to investigate the vitamin D metabolic pathway genes polymorphisms and vitamin D levels with NH susceptibility. Methods We retrospectively analyzed the clinical data, vitamin D levels and its metabolic pathway gene polymorphisms of 187 NH neonates and 149 controls at Tianjin Children’s Hospital/Tianjin University Children’s Hospital between April 2019 and August 2022. Vitamin D levels were measured by liquid chromatography-tandem mass spectrometry (LC-MS/MS) method, and the genetic polymorphism of NADSYN1/DHCR7, GC, CYP2R1, CYP24A1 and CYP27B1 was detected by high resolution melting (HRM) analysis. Results The frequency of vitamin D deficiency (25(OH)D < 15 ng/mL) was significantly increased in the NH group compared to controls. TT genotype of rs12785878 and GT genotype of rs10877012 were protective factors of vitamin D deficiency and NH, and GT genotype and dominant model carriers of rs12785878 had a higher risk of severe NH than the GG genotype carriers (GT genotype: OR: 2.43; 95% CI: 1.22–4.86; P = 0.012, dominant model: OR: 1.97; 95% CI: 1.04–3.73; P = 0.037). GC gene haplotype was associated with vitamin D deficiency. No significant SNP-SNP and SNP-vitamin D levels interaction combinations were found. Conclusions There were associations among NH, vitamin D deficiency and NADSYN1/DHCR7 and CYP27B1 polymorphisms, TT genotype of rs12785878 and GT genotype of rs10877012 could reduce the risk of vitamin D deficiency and NH. Furthermore, rs12785878 was significantly associated with severe NH.

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Section: Discussionmentioning

confidence: 99%

Vitamin D metabolic pathway genes polymorphisms and vitamin D levels in association with neonatal hyperbilirubinemia in China: a single-center retrospective cohort study

et al. 2023

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“…25-hydroxyvitamin D-1 alpha hydroxylase and its gene- CYP27B1 have been broadly studied for association with different tumors susceptibility. Significant associations between CYP27B1 expression or gene polymorphisms and cancer risk were found, for example, for colorectal, ovarian, and non-small cell lung cancer [ 56 , 57 , 58 , 59 ]. Both normal thyroid follicular cells and DTC cells express CYP27B1 .…”

Section: Discussionmentioning

confidence: 99%

Vitamin D-Related Genes and Thyroid Cancer—A Systematic Review

Maciejewski

Łącka

2022

IJMS

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Vitamin D, formerly known for its role in calcium-phosphorus homeostasis, was shown to exert a broad influence on immunity and on differentiation and proliferation processes in the last few years. In the field of endocrinology, there is proof of the potential role of vitamin D and vitamin D-related genes in the pathogenesis of thyroid cancer—the most prevalent endocrine malignancy. Therefore, the study aimed to systematically review the publications on the association between vitamin D-related gene variants (polymorphisms, mutations, etc.) and thyroid cancer. PubMed, EMBASE, Scopus, and Web of Science electronic databases were searched for relevant studies. A total of ten studies were found that met the inclusion criteria. Six vitamin D-related genes were analyzed (VDR—vitamin D receptor, CYP2R1—cytochrome P450 family 2 subfamily R member 1, CYP24A1—cytochrome P450 family 24 subfamily A member 1, CYP27B1—cytochrome P450 family 27 subfamily B member 1, DHCR7—7-dehydrocholesterol reductase and CUBN—cubilin). Moreover, a meta-analysis was conducted to summarize the data from the studies on VDR polymorphisms (rs2228570/FokI, rs1544410/BsmI, rs7975232/ApaI and rs731236/TaqI). Some associations between thyroid cancer risk (VDR, CYP24A1, DHCR7) or the clinical course of the disease (VDR) and vitamin D-related gene polymorphisms were described in the literature. However, these results seem inconclusive and need validation. A meta-analysis of the five studies of common VDR polymorphisms did not confirm their association with increased susceptibility to differentiated thyroid cancer. Further efforts are necessary to improve our understanding of thyroid cancer pathogenesis and implement targeted therapies for refractory cases.

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“…Signaling pathway include immune system [69], neutrophil degranulation [70], cytokine signaling in immune system [71], extracellular matrix organization [72], post-translational protein phosphorylation [73], biological oxidations [74], metabolism [75] and metabolism of lipids [76] were responsible for progression of CD. CXCL5 [77], CXCL3 [78], PROK2 [79], CXCR1 [80], PYCR1 [81], OSM (oncostatin M) [82], IL15RA [83], LRG1 [84], LCN2 [85], BATF2 [86], CXCL1 [87], S100A9 [88], IFITM1 [89], MYOF (myoferlin) [90], XBP1 [91], MMP3 [92], TAP1 [93], FPR2 [94], CXCL6 [95], C2CD4A [96], IFITM3 [97], IL1B [98], SLC6A14 [99], FPR1 [100], NOS2 [101], CHI3L1 [102], TGM2 [103], MUC4 [104], TREM1 [105], WNT5A [106], HGF (hepatocyte growth factor) [107], CXCL9 [108], GBP1 [109], S100A11 [110], ADM (adrenomedullin) [111], CXCL11 [112], CXCL10 [113], LILRB2 [114], GDF15 [115], IL1RN [116] STAT1 [117], SLAMF7 [105], CYP27B1 [118], NETO2 [119], TFPI2 [120], ZC3H12A [121], MMP1 [122], CSF3 [123], SOCS3 [124], TLR8 [125], HTRA3 [126], CEBPB (CCAAT enhancer binding protein beta) [127], CD55 [128], CXCR2 [129], CCL28 [130], CBR3 [131], CCL3 [132], FCGR2A [48], ACSL1 [133], CCL2 [134], SOD2 [135], CD14 [136], IGFBP2 [137], CD274 [138], DERL3 [139], SERPINE1 [140], IDO1 [141], PDK...…”

Section: Discussionmentioning

confidence: 99%

Identification of hub genes and key pathways in pediatric Crohn’s disease using next generation sequencing and bioinformatics analysis

Vastrad¹,

Vastrad²

2022

Preprint

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Pediatric Crohn's Disease (CD) also known as inflammatory bowel diseases, affects millions of people all over the world. The aim of this investigation is to identify the key genes in CD and uncover their potential functions. We downloaded the next generation sequencing (NGS) dataset GSE73374 from the Gene Expression Omnibus (GEO) database. The NGS dataset GSE73374 was used to screen differentially expressed genes (DEGs) between samples from patients with CD and healthy controls. Gene ontology (GO) and REACTOME pathway enrichment analyses were applied for the DEGs. Subsequently, a protein - protein interaction (PPI) network, modules, miRNA- hub gene regulatory network and TF - hub gene regulatory network were constructed to identify hub genes, miRNAs and TFs. Receiver operating characteristic curve (ROC) analysis was applied to validate the hub genes. A total of 957 DEGs were identified, including 478 up regulated genes and 479 down regulated genes. GO and REACTOME results suggested that several Go terms and pathways are involved in response to stimulus, extracellular region, signaling receptor binding, small molecule metabolic process, membrane, transporter activity, immune system and biological oxidations. The top centrality hub genes MDFI, MNDA, FBXO6, TFRC, STAT1, DPP4, MME, SLC39A4, APOA1 and TMEM25 were screened out as the critical genes among the DEGs from the PPI network, modules, miRNA-hub gene regulatory network and TF-hub gene regulatory network. This investigation identified key genes and signal pathways, which might help us improve our understanding of the molecular mechanisms of CD and identify some novel therapeutic targets for CD.

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CYP27B1 Gene Polymorphism rs10877012 in Patients Diagnosed with Colorectal Cancer

Cited by 12 publications

References 43 publications

Vitamin D metabolic pathway genes polymorphisms and vitamin D levels in association with neonatal hyperbilirubinemia in China: a single-center retrospective cohort study

Vitamin D metabolic pathway genes polymorphisms and vitamin D levels in association with neonatal hyperbilirubinemia in China: a single-center retrospective cohort study

Vitamin D-Related Genes and Thyroid Cancer—A Systematic Review

Identification of hub genes and key pathways in pediatric Crohn’s disease using next generation sequencing and bioinformatics analysis

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