Replication of genome wide association studies on hepatocellular carcinoma susceptibility loci of  STAT4  and  HLA-DQ  in a Korean population

Kim, Lyoung Hyo; Cheong, Hyun Sub; Namgoong, Suhg; Kim, Ji On; Kim, Jeong Hyun; Park, Byung Lae; Cho, Sung Won; Park, Neung Hwa; Cheong, Jae Youn; Koh, In Song; Shin, Hyoung Doo; Kim, Yoon Jun

doi:10.1016/j.meegid.2015.04.013

Cited by 27 publications

(27 citation statements)

References 16 publications

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“…Further, carriers of the high-risk allele had lower levels of STAT4 in HCC and nontumor tissues compared to other genotypes, and lower STAT4 expression in tumor compared to adjacent normal tissue. This link between STAT4 variation and HBV infection severity has been verified in additional cohorts (69, 71, 76), although the mechanistic role of STAT4 in controlling infection remains under investigation.…”

Section: Hepatitis B Virusmentioning

confidence: 72%

Human Genetic Determinants of Viral Diseases

et al. 2017

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Much progress has been made in the identification of specific human gene variants that contribute to enhanced susceptibility or resistance to viral diseases. Herein we review multiple discoveries made with genome-wide or candidate gene approaches that have revealed significant insights into virus–host interactions. Genetic factors that have been identified include genes encoding virus receptors, receptor-modifying enzymes, and a wide variety of innate and adaptive immunity-related proteins. We discuss a range of pathogenic viruses, including influenza virus, respiratory syncytial virus, human immunodeficiency virus, human T cell leukemia virus, human papilloma virus, hepatitis B and C viruses, herpes simplex virus, norovirus, rotavirus, parvovirus, and Epstein-Barr virus. Understanding the genetic underpinnings that affect infectious disease outcomes should allow tailored treatment and prevention approaches in the future.

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Section: Hepatitis B Virusmentioning

confidence: 72%

Human Genetic Determinants of Viral Diseases

et al. 2017

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“…Several SNPs in the gene have been significantly association with Behcet's Disease [119], diabetes risk [107], hepatitis B virus-related hepatocellular carcinoma [107,111,120,121], inflammatory bowel disease [122], juvenile idiopathic arthritis [123], primary biliary cirrhosis and Crohn's disease [124], severe renal insufficiency in lupus nephritis [109], systemic lupus erythematosus [106] and ulcerative colitis [125]. Some STAT4 SNPs were found to create alterations in punitive TFBS and these punitive changes were examined with respect to these disease or conditions [25].…”

Section: Signal Transducer and Activator Of Transcription 4 (Stat4)mentioning

confidence: 99%

“…The rs7574865 STAT4 SNP (G/T) has been found to be significantly associated with diabetes [112], hepatitis B virus-related hepatocellular carcinoma [107,111,120,121], inflammatory bowel disease [122], juvenile idiopathic arthritis [123], primary biliary cirrhosis and Crohn's disease [124], severe renal insufficiency in lupus nephritis [109], systemic lupus erythematosus [106] and ulcerative colitis [125]. The minor T-allele for the SNP creates a unique punitive TFBS not found with the common G-allele for the nuclear receptor subfamily 1, group H, member 3: retinoid X receptor, alpha (NR1HE:RXRα TF which is a key regulator of macrophage function, controlling transcriptional programs involved in lipid homeostasis and inflammation [25].…”

Section: Signal Transducer and Activator Of Transcription 4 (Stat4)mentioning

confidence: 99%

SNPs, transcriptional factor binding sites and disease

Buroker¹

2017

Biomed Genet Genomics

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“…The coding region consists of 22 exons with a large 70 kb intron between exons 2 and 3. Several SNPs in the gene have been significantly association with Behcet's Disease [18], diabetes risk [11], hepatitis B virus-related hepatocellular carcinoma [6,10,19,20], inflammatory bowel disease [21], juvenile idiopathic arthritis [22], primary biliary cirrhosis and Crohn's disease [23], severe renal insufficiency in lupus nephritis [8], systemic lupus erythematosus [5] and ulcerative colitis [24] ( Table 1).…”

Section: Introductionmentioning

confidence: 99%

“…The rs7574865 STAT4 SNP has been found to be significantly associated with diabetes [11], hepatitis B virus-related hepatocellular carcinoma [6,10,19,20], inflammatory bowel disease [21], juvenile idiopathic arthritis [22], primary biliary cirrhosis and Crohn's disease [23], severe renal insufficiency in lupus nephritis [8], systemic lupus erythematosus [5] and ulcerative colitis [24]. The rs11889341 STAT4 SNP has been found to be significantly associated with diabetes [11], hepatitis B virus (HBV) infection, HBV-related cirrgisus and hepatocellular carcinoma [23], severe renal insufficiency in lupus nephritis [8], and systemic lupus erythematosus [5].…”

Section: Introductionmentioning

confidence: 99%

Computational STAT4 rSNP Analysis, Transcriptional Factor Binding Sites And Disease

Buroker

2016

JBD

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Purpose -Signal Transducer and Activator of Transcription 4 (STAT4) is important for signaling by interleukins and type 1 interferons and has been found to have several simple nucleotide polymorphisms (SNPs) associated with human disease. STAT4 SNPs were computationally examined with respect to changes in potential transcriptional factor binding sites (TFBS) and these changes were discussed in relation to human disease. Methods -The JASPAR CORE and ConSite databases were instrumental in identifying the TFBS. TheVector NTI Advance 11.5 computer program was employed in locating all the TFBS in the STAT4 gene from 4 kb upstream of the transcriptional start site to 8.3 kb past the 3'UTR. The JASPAR CORE database was also involved in computing each nucleotide occurrence (%) within the TFBS.Results -The STAT4 SNPs in the 70 kb intron between exon 2 and 3 are in linkage disequilibrium and have previously been found to be significantly associated with several vasculitis diseases as well as diabetes. The SNP alleles were found to alter the DNA landscape for potential transcriptional factors (TFs) to attach resulting in changes in TFBS and thereby, alter which transcriptional factors potentially regulate the STAT4 gene. These STAT4 SNPs should be considered as regulatory (r) SNPs.Conclusion -The alleles of each rSNP were found to generate unique TFBS resulting in potential changes in TF STAT4 regulation. These regulatory changes were discussed with respect to changes in human health that result in disease.

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Replication of genome wide association studies on hepatocellular carcinoma susceptibility loci of STAT4 and HLA-DQ in a Korean population

Cited by 27 publications

References 16 publications

Human Genetic Determinants of Viral Diseases

Human Genetic Determinants of Viral Diseases

SNPs, transcriptional factor binding sites and disease

Computational STAT4 rSNP Analysis, Transcriptional Factor Binding Sites And Disease

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