ABCC2 p.Gln972Arg
| Predicted by SNAP2: | A: D (53%), C: D (53%), D: D (75%), E: D (63%), F: D (71%), G: N (61%), H: D (53%), I: D (63%), K: N (93%), L: D (66%), M: D (53%), N: N (53%), P: D (75%), R: N (87%), S: N (78%), T: D (53%), V: D (53%), W: D (75%), Y: D (59%), |
| Predicted by PROVEAN: | A: N, C: D, D: N, E: N, F: D, G: D, H: N, I: D, K: N, L: D, M: N, N: N, P: N, R: N, S: N, T: N, V: D, W: D, Y: D, |
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[hide] Genetics of alcoholic and nonalcoholic fatty liver... Semin Liver Dis. 2011 May;31(2):128-46. Epub 2011 May 2. Anstee QM, Daly AK, Day CP
Genetics of alcoholic and nonalcoholic fatty liver disease.
Semin Liver Dis. 2011 May;31(2):128-46. Epub 2011 May 2., [PMID:21538280]
Abstract [show]
Excess alcohol consumption with consequent alcoholic liver disease (ALD) and metabolic syndrome-related nonalcoholic fatty liver disease (NAFLD) are recognized as the most common causes of liver dysfunction worldwide. However, although the majority of heavy drinkers and individuals with obesity/insulin resistance will develop steatosis, only a minority progress to steatohepatitis, fibrosis, and cirrhosis. Both ALD and NAFLD are best considered complex disease traits where subtle interpatient genetic variations and environment interact to produce disease phenotype and determine disease progression. A decade after the sequencing of the human genome, the development of technologies to support the comprehensive study of genomic variation has begun to provide new insights into the modifier genes that contribute to this interpatient variation. Here we review the current status of the field with particular focus on advances from recent genome-wide association studies and their translation into a better mechanistic understanding of pathogenesis.
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No. Sentence Comment
139 Steatohepatitis risk132 or advanced disease/fibrosis.133 Other studies show no effect.134, 131,132 H63D Hepatic lipase LIPC C-514T Insulin receptor substrate-1 IRS-1 Q972R Associated with insulin resistance and hepatic fibrosis,82 but a second study was negative83 Interleukin-6 IL6 G-174C Associated with steatohepatitis risk83 Kruppel-like factor 6 KLF6 rs3750861 Severity of hepatic fibrosis31 Leptin Receptor LEPR G3057A Manganese superoxide dismutase SOD2 A16T Advanced fibrosis119,138 Methylenetetrahydrofolate reductase MTHFR C677T Increased risk of NASH182 A1298C Microsomal triglyceride transfer protein MTTP G-493T Conflicting; association with histologic steatosis and steatohepatitis in some studies,115,116 but not all121 Nucleotide-binding oligomerization domain containing 2 NOD2 R702W Not associated with steatohepatitis risk148 G908R 3020insC Patatin-like phospholipase domain-containing 3 PNPLA3 I148M (rs738409) See Table 1 for details S453I (rs6006460) Peroxisome proliferator-activated receptor A PPARA rs135539 No association with 1 H-MRS measured steatosis85 rs1800206 rs4253778 Peroxisome proliferator-activated receptor D PPARD rs6902123 No association with 1 H-MRS measured steatosis85 in SOD, myeloperoxidase, and glutathione peroxidase.141,178,179 Similarly, the C677T SNP in the methylenetetrahydrofolate reductase (MTHFR) gene has also been associated with an increased risk of HCC in ALD cirrhosis.180 The value of greater understanding of genetic risk for HCC may perhaps lie in tailored surveillance strategies for patients at greater risk; however, this remains some way off.
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ABCC2 p.Gln972Arg 21538280:139:166
status: PROTEIN_MISMATCH