Fatty Liver Disease, Nonalcoholic, Susceptibility To, 2

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Retrieved

2019-09-22

Source

Omim

Trials

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Genes

ACADM, PPARGC1A, CCL5, STAT3, TFRC, TLR4, TNF, UCP2, IRS2, ABCC3, ADIPOQ, MFN2, NR1H4, NR1H3, PGRMC1, ADAMTS13, RARRES2, SIRT2, SIRT4, SIRT3, SIRT1, CIDEB, SIDT2, SIRT6, RETN, HAMP, ABCG5, ABCG8, PNPLA3, DGAT2, CCL2, MAPK8, ACADVL, HMGCR, ACO1, ACTB, APOE, ATP5F1A, COL1A1, CYP2E1, CYP8B1, NQO1, EZH2, FOXO1, G6PD, GSR, HADHA, HP, PON2, IDE, IGF1, IGF1R, IL18, INSR, IRS1, JAK2, LEP, LEPR, LPL, NFE2L2, ABCB1, PHYH, NLRP3

Drugs

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For a general phenotypic description and a discussion of genetic heterogeneity of nonalcoholic fatty liver disease, see NAFLD1 (613282).

Molecular Genetics

In a study of 95 healthy Asian Indian men, Petersen et al. (2010) found that carriers of variant alleles in the APOC3 gene (107720) on 11q23, -455T-C (rs2854116) and/or -482C-T (rs2854117), which are in strong linkage disequilibrium, had a 30% increase in fasting plasma APOC3 and a 60% increase in fasting plasma triglycerides compared to individuals who were homozygous for the wildtype alleles. Carriers of the variant alleles also had a 2-fold increase in plasma triglyceride and retinyl fatty acid ester concentrations after an oral fat-tolerance test, as well as a 46% reduction in plasma triglyceride clearance. The prevalence of nonalcoholic fatty liver disease was 38% among carriers of the variant alleles compared to 0% among wildtype homozygotes, and those with NAFLD had marked insulin resistance. The findings were confirmed in a validation study involving 163 non-Asian Indian men.