Expressive

rs10756038 - PTPRD

Magnitude 4.5 · 1 study on file

Reported associations

  • Genome-wide association meta-analysis identifies 17 loci associated with nonalcoholic fatty liver disease. - Nature genetics (2023) · Chen Y, Du X, Kuppa A, Feitosa MF, Bielak LF, O'Connell JR, Musani SK, Guo X, Kahali B, Chen VL, Smith AV, Ryan KA, Eirksdottir G, Allison MA, Bowden DW, Budoff MJ, Carr JJ, Chen YI, Taylor KD, Oliveri A, Correa A, Crudup BF, Kardia SLR, Mosley TH, Norris JM, Terry JG, Rotter JI, Wagenknecht LE, Halligan BD, Young KA, Hokanson JE, Washko GR, Gudnason V, Province MA, Peyser PA, Palmer ND, Speliotes EK · PubMed 37709864

    Nonalcoholic fatty liver disease (NAFLD) is common and partially heritable and has no effective treatments. We carried out a genome-wide association study (GWAS) meta-analysis of imaging (n = 66,814) and diagnostic code (3,584 cases versus 621,081 controls) measured NAFLD across diverse ancestries. We identified NAFLD-associated variants at torsin family 1 member B (TOR1B), fat mass and obesity associated (FTO), cordon-bleu WH2 repeat protein like 1 (COBLL1)/growth factor receptor-bound protein 14 (GRB14), insulin receptor (INSR), sterol regulatory element-binding transcription factor 1 (SREBF1) and patatin-like phospholipase domain-containing protein 2 (PNPLA2), as well as validated NAFLD-associated variants at patatin-like phospholipase domain-containing protein 3 (PNPLA3), transmemb

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Lifestyle context

Concrete actions anchored to the cited research. We do not prescribe, we describe.

Diet

  • Refined carbohydrates and added sugars Moderate

    High dietary refined carbohydrate and added sugar intake accelerates hepatic steatosis development in NAFLD-susceptible individuals

    Limit added sugars to <25g/day (women) or <36g/day (men); choose whole grains over refined carbs

Exercise

  • Aerobic and resistance exercise Moderate

    Physical activity improves insulin sensitivity, enhances fatty acid oxidation, and reduces hepatic lipid accumulation

    150 minutes moderate-intensity aerobic activity per week; add resistance training 2-3 days per week

Screening

  • Liver function testing and abdominal ultrasound Moderate

    PTPRD rs10756038 G-allele is strongly associated with increased NAFLD risk; baseline and periodic assessment enables early disease detection

    Baseline hepatic panel (ALT, AST, bilirubin, ALP) and abdominal ultrasound; repeat every 2-3 years