Could inherited predisposition drive non-obese fatty liver disease? Results from German tertiary referral centers

Journal of Human Genetics
Marcin KrawczykNAFLD Clinical Study Group (NAFLD CSG)

Abstract

Non-alcoholic fatty liver disease (NAFLD) is frequent among obese individuals with metabolic syndrome. Variants PNPLA3 p.I148M, TM6SF2 p.E167K and MBOAT7 rs641738 are associated with higher liver fat contents. Here we analyzed 63 biopsied non-obese, non-diabetic patients with NAFLD (39 men, age: 20-72 years) recruited within the German NAFLD CSG program. The frequencies of the PNPLA3, TM6SF2 and MBOAT7 polymorphisms were compared with the remaining patients in the NAFLD CSG cohort and with a control population (n = 174). Serum CK18-M30 was measured by ELISA. In non-obese NAFLD patients, the frequency of the PNPLA3 p.I148M allele (74.6%), but not of the TM6SF2 or MBOAT7 polymorphisms, was significantly (P < 0.05) higher as compared to the other patients in the NAFLD CSG cohort (54.9%) or controls (40.2%). The presence of the minor PNPLA3 p.I148M risk allele increased the risk of developing NAFLD (OR = 3.29, P < 0.001) and was associated with higher steatosis, fibrosis, and serum CK18-M30 levels (all P < 0.05). According to the population attributable fraction (PAF), 49.8% of NAFLD cases could be eliminated if the PNPLA3 mutation was absent. The MBOAT7 polymorphism was more frequent (P = 0.019) in patients with severe hepatic ste...Continue Reading

References

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Citations

Jun 27, 2020·European Journal of Clinical Investigation·Abdulrahman Ismaiel, Dan L Dumitrascu
Apr 4, 2021·Nutrition, Metabolism, and Cardiovascular Diseases : NMCD·C ZusiC Maffeis
May 1, 2021·International Journal of Molecular Sciences·Siarhei A DabravolskiAlexander N Orekhov
Jul 8, 2021·Hepatology : Official Journal of the American Association for the Study of Liver Diseases·Sílvia VilarinhoRohit Loomba

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Methods Mentioned

BETA
biopsy
genotyping
ELISA

Software Mentioned

SPSS
PARC
GraphPad Prism

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