rs2596542, MICA-AS1;MICA

N. diseases: 18
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO
0.700 GeneticVariation GWASDB Common genetic variation and the control of HIV-1 in humans. 20041166 2009
HIV-1, RESISTANCE TO
CUI: C1836231
Disease: HIV-1, RESISTANCE TO
0.700 GeneticVariation GWASDB Common genetic variation and the control of HIV-1 in humans. 20041166 2009
Hepatitis C
CUI: C0019196
Disease: Hepatitis C
0.100 GeneticVariation BEFREE TT genotype at rs2596542 was a risk factor for the development of HCC in patients with HCV/HBV infection (OR = 1.248, 95% CI: 1.040-1.499, P = 0.017), particularly those with HCV infection (OR = 1.326, 95% CI: 1.101-1.599, P = 0.003) and Asians (OR = 1.273, 95% CI: 1.002-1.618, P = 0.048), or when the control group was patients with chronic hepatitis C (CHC) (OR = 1.506, 95% CI: 1.172-1.936, P = 0.001). 31419949 2019
Hepatitis C
CUI: C0019196
Disease: Hepatitis C
0.100 GeneticVariation BEFREE Taken together our study suggest that MICA rs2596542 SNP impacts HCV-induced HCC susceptibility suggesting that genetic variants in MICA are of clinical relevance to hepatocarcinogenesis by impacting host immune response in chronic HCV infection. 31471884 2019
Hepatitis C
CUI: C0019196
Disease: Hepatitis C
0.100 GeneticVariation BEFREE In summary, the MICA rs2596538 and rs2596542 variants warrant further research for their clinical validity and utility in relationship to the risk of developing HCV-related HCC in independent populations. 29584564 2018
Hepatitis C
CUI: C0019196
Disease: Hepatitis C
0.100 GeneticVariation BEFREE We enrolled 787 consecutive patients with chronic HCV infection, which included 174 cases of HCC, and 325 healthy subjects to clarify the involvement of HLA-Bw and C, KIRs, and major histocompatibility complex class I chain-related gene A (MICA) gene polymorphisms (rs2596542 and rs1051792) in chronic HCV infection and HCV-related HCC. 29731972 2018
Hepatitis C
CUI: C0019196
Disease: Hepatitis C
0.100 GeneticVariation BEFREE These results demonstrate that MICA rs2596542G/G, and particularly the rs2596538C/C polymorphism, are associated with the risk of developing HCV-related HCC in a Sicilian population sample. 29584564 2018
Hepatitis C
CUI: C0019196
Disease: Hepatitis C
0.100 GeneticVariation BEFREE Recently, two genetic variants, DEPDC5 rs1012068 and MICA rs2596542, were associated with the onset of HCC in Asian subjects with chronic HCV infection. 26517016 2016
Hepatitis C
CUI: C0019196
Disease: Hepatitis C
0.100 GeneticVariation BEFREE An extended region around rs2596542 was genotyped in 1924 HCV-infected patients from the Swiss Hepatitis C Cohort Study (SCCS). 23665287 2013
Hepatitis C
CUI: C0019196
Disease: Hepatitis C
0.100 GeneticVariation BEFREE Genome-wide association studies (GWAS) have identified three loci (rs17401966 in KIF1B, rs7574865 in STAT4, rs9275319 in HLA-DQ) as being associated with hepatitis B virus-related hepatocellular carcinoma (HBV-related HCC) in a Chinese population, two loci (rs2596542 in MICA, rs9275572 located between HLA-DQA and HLA-DQB) with hepatitis C virus-related HCC (HCV-related HCC) in a Japanese population. 24204805 2013
Hepatitis C
CUI: C0019196
Disease: Hepatitis C
0.100 GeneticVariation BEFREE We previously identified the association of SNP rs2596542 in the 5' flanking region of the MHC class I polypeptide-related sequence A (MICA) gene with the risk of HCV-induced HCC. 23593449 2013
Hepatitis C
CUI: C0019196
Disease: Hepatitis C
0.100 GeneticVariation BEFREE A recent genome-wide association study has identified a single nucleotide polymorphism (SNP) of MICA, rs2596542 to be significantly associated with hepatitis C-induced hepatocellular carcinoma (HCC) in a Japanese population. 23994040 2013
Hepatitis C
CUI: C0019196
Disease: Hepatitis C
0.100 GeneticVariation BEFREE We recently reported that a single nucleotide polymorphism (SNP) rs2596542 located in the MICA promoter region was significantly associated with the risk for hepatitis C virus (HCV)-induced hepatocellular carcinoma (HCC) and also with serum levels of soluble MICA (sMICA). 23024757 2012
Liver Cirrhosis
CUI: C0023890
Disease: Liver Cirrhosis
0.030 GeneticVariation BEFREE Finally, sMICA levels significantly increased during HCV-related liver disease progression, while a significant relationship between both rs2596542 and rs2596538 genotypes and sMICA plasma levels was identified in patients with LC and HCC. 29584564 2018
Liver Cirrhosis
CUI: C0023890
Disease: Liver Cirrhosis
0.030 GeneticVariation BEFREE Studying SNP rs2596542C/T association with HCC and LC susceptibility revealed that statistical significant differences (<i>P</i> = 0.013, <i>P</i> = 0.027) were only observed between SNP rs2596542C/T and each of HCC and LC, respectively, versus healthy controls, indicating that the rs2596542C/T genetic variation is not a significant contributor to HCC development in LC patients. 28417047 2017
Liver Cirrhosis
CUI: C0023890
Disease: Liver Cirrhosis
0.030 GeneticVariation BEFREE Therefore, this study aims to investigate whether the SNP rs2596542 plays any role in hepatitis B virus (HBV) sero-clearance or in the development of complications associated with chronic HBV such as cirrhosis and/or HCC. 23994040 2013
Hepatitis B
CUI: C0019163
Disease: Hepatitis B
0.020 GeneticVariation BEFREE TT genotype at rs2596542 was a risk factor for the development of HCC in patients with HCV/HBV infection (OR = 1.248, 95% CI: 1.040-1.499, P = 0.017), particularly those with HCV infection (OR = 1.326, 95% CI: 1.101-1.599, P = 0.003) and Asians (OR = 1.273, 95% CI: 1.002-1.618, P = 0.048), or when the control group was patients with chronic hepatitis C (CHC) (OR = 1.506, 95% CI: 1.172-1.936, P = 0.001). 31419949 2019
Hepatitis C, Chronic
CUI: C0524910
Disease: Hepatitis C, Chronic
0.020 GeneticVariation BEFREE Association between MICA rs2596542 Polymorphism with the Risk of Hepatocellular Carcinoma in Chronic Hepatitis C Patients. 31471884 2019
Hepatocarcinogenesis
CUI: C1512409
Disease: Hepatocarcinogenesis
0.020 GeneticVariation BEFREE Taken together our study suggest that MICA rs2596542 SNP impacts HCV-induced HCC susceptibility suggesting that genetic variants in MICA are of clinical relevance to hepatocarcinogenesis by impacting host immune response in chronic HCV infection. 31471884 2019
Hepatitis C, Chronic
CUI: C0524910
Disease: Hepatitis C, Chronic
0.020 GeneticVariation BEFREE TT genotype at rs2596542 was a risk factor for the development of HCC in patients with HCV/HBV infection (OR = 1.248, 95% CI: 1.040-1.499, P = 0.017), particularly those with HCV infection (OR = 1.326, 95% CI: 1.101-1.599, P = 0.003) and Asians (OR = 1.273, 95% CI: 1.002-1.618, P = 0.048), or when the control group was patients with chronic hepatitis C (CHC) (OR = 1.506, 95% CI: 1.172-1.936, P = 0.001). 31419949 2019
Hepatocarcinogenesis
CUI: C1512409
Disease: Hepatocarcinogenesis
0.020 GeneticVariation BEFREE The C allele in MICA rs2596542 is a protective factor for hepatocarcinogenesis, whereas the T allele is a risk factor. 30882647 2019
Hepatitis B
CUI: C0019163
Disease: Hepatitis B
0.020 GeneticVariation BEFREE The TT genotype was found to occur more frequently among active HBV carriers (groups II, III and IV) when compared to inactive HBV carriers, thus suggesting that the rs2596542-T may be recessively associated with an active HBV infection. 23994040 2013
Pseudohyperkalemia Cardiff
CUI: C1861453
Disease: Pseudohyperkalemia Cardiff
0.010 GeneticVariation BEFREE TT genotype at rs2596542 was a risk factor for the development of HCC in patients with HCV/HBV infection (OR = 1.248, 95% CI: 1.040-1.499, P = 0.017), particularly those with HCV infection (OR = 1.326, 95% CI: 1.101-1.599, P = 0.003) and Asians (OR = 1.273, 95% CI: 1.002-1.618, P = 0.048), or when the control group was patients with chronic hepatitis C (CHC) (OR = 1.506, 95% CI: 1.172-1.936, P = 0.001). 31419949 2019
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.010 GeneticVariation BEFREE Patients with the SNP rs2596542 A allele had significantly lower MICA expression in tumor tissue than did those with the GG genotype (24.7 ± 15.1% vs. 41.5 ± 23.4%, P < 0.001). 30361527 2018
Liver diseases
CUI: C0023895
Disease: Liver diseases
0.010 GeneticVariation BEFREE Therefore, SNP (rs2596542C/T) in MICA promoter region and sMICA levels might be potential useful markers in the assessment of liver disease progression to LC and HCC. 28417047 2017