Systematical analyses of variants in DNase I hypersensitive sites to identify hepatocellular carcinoma susceptibility loci in a Chinese population

Jiang, Tao; Du, Fangzhi; Qin, Na; Lü, Qun; Dai, Juncheng; Shen, Hongbing; Hu, Zhibin

doi:10.1111/jgh.13790

Cited by 2 publications

(2 citation statements)

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“…Among them, rs62331150 was associated with the expression of tet methylcytosine dioxygenase 2 (TET2) in normal breast tissue and tumor tissue. Two new SNP (rs12309362 and rs9970827) were found to be significantly associated with reducing the risk of hepatocellular carcinoma (HCC) by measuring the mutations at the peak of DHSs in 1,538 patients with HCC and 1,465 normal controls (57).…”

Section: Dhss and Diseasesmentioning

confidence: 99%

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Unveiling the gene regulatory landscape in diseases through the identification of DNase I‑hypersensitive sites (Review)

Chen

2019

biom rep

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DNase I-hypersensitive sites (DHSs) serve key roles in the regulation of gene transcription as markers of cis -regulatory elements (CREs). Recent advances in next-generation sequencing have enabled the genome-wide location and annotation of DHSs in a variety of cells. Numerous studies have confirmed that DHSs are involved in several processes in cell fate decision and development. DHSs have also been indicated in cancer and inherited diseases as driver distal regulatory elements. Here, the definition of DHSs is reviewed, in addition to high-throughput methods of DHS identification. Furthermore, the function of DHSs in gene expression is probed. The roles of DHSs in disease occurrence are also reviewed and discussed. Concomitant advances in the identification of essential roles of DHSs will assist in disclosing the underlying molecular mechanisms, supplementing gene transcription and enlarging the molecular basis of DHS-related bioprocesses, phenotypes, distinct traits and diseases.

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Section: Dhss and Diseasesmentioning

confidence: 99%

“…These two SNP sites were found to be in linkage disequilibrium with rs9790517 of the adjacent TET2 gene (55). It was also found that, in samples with mutation at the rs12309362 and rs9970827 sites, the risk of being affected with HCC decreased significantly (57).…”

Section: Dhss and Diseasesmentioning

confidence: 99%

Unveiling the gene regulatory landscape in diseases through the identification of DNase I‑hypersensitive sites (Review)

Chen

2019

biom rep

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Advances of DNase-seq for mapping active gene regulatory elements across the genome in animals

Chen

2018

Gene

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Systematical analyses of variants in DNase I hypersensitive sites to identify hepatocellular carcinoma susceptibility loci in a Chinese population

Abstract: Our results indicated that rs12309362 (G > A), rs9970827 (A > G) in DHSs, and elevated expression of CEBPB were associated with a decreased risk of HCC. These results may contribute us to understand the function of regulatory DNA sequences in HCC development.

Cited by 2 publications

References 38 publications

Unveiling the gene regulatory landscape in diseases through the identification of DNase I‑hypersensitive sites (Review)

Unveiling the gene regulatory landscape in diseases through the identification of DNase I‑hypersensitive sites (Review)

Advances of DNase-seq for mapping active gene regulatory elements across the genome in animals

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