Association of HSD17B13 rs72613567:TA with non-alcoholic fatty liver disease in Hispanics/Latinos

Liver Int. 2020 Apr;40(4):889-893. doi: 10.1111/liv.14387. Epub 2020 Feb 3.


Introduction: Non-alcoholic fatty liver disease (NAFLD) disproportionately affects Hispanic/Latinos and rates of NAFLD vary among Hispanics from different background groups. Genetic variants and continental ancestry contribute to NAFLD disparities among Hispanics. We evaluated two newly identified NAFLD-associated single nucleotide polymorphisms of HSD17B13, rs72613567:TA and rs62305723:A in Hispanics/Latinos.

Methods: Clinical data, genotypes of variants of interest and estimates of continental ancestry were extracted from the Hispanic Community Health Study/Study of Latinos (HCHS/SOL) database, which includes a cohort of 16 415 US Hispanic/Latinos. Surrogate endpoints for NAFLD were suspected NAFLD based on unexplained aminotransferase elevation, continuous ALT levels and FIB-4 scores to estimate hepatic fibrosis.

Results: In all, 9342 participants were included for analysis. The rs72613567:TA allele was found in 15.3% and the rs62305723:A allele was identified in 4.5% of HCHS/SOL participants. rs72613567:TA was less frequent in persons with vs without suspected NAFLD (12.4% vs 15.7%, P < .001) and rs72613567:TA was associated with lower FIB-4 scores (P = .01). For persons with the NAFLD-associated PNPLA3 rs738409:G allele, the presence of rs72613567:TA was associated with a lower rate of suspected NAFD (odds ratio = 0.76, P < .001). rs72613567:TA was less frequent in Hispanic/Latino background groups with higher rates of suspected NAFLD. The rs62305723:A allele was not associated with suspected NAFLD or FIB-4 score.

Conclusion: The rs72613567:TA allele is associated with lower rates of suspected NAFLD and lower FIB-4 scores among Hispanic/Latinos and with lower rates of suspected NAFLD in persons with the PNPLA3 rs738409:G allele. The rs72613567:TA allele contributes to NAFLD disparities among Hispanic/Latino background groups.

Publication types

  • Research Support, N.I.H., Extramural

MeSH terms

  • 17-Hydroxysteroid Dehydrogenases / genetics*
  • Hispanic or Latino / genetics
  • Humans
  • Liver Cirrhosis
  • Non-alcoholic Fatty Liver Disease* / ethnology
  • Non-alcoholic Fatty Liver Disease* / genetics
  • Polymorphism, Single Nucleotide
  • Transaminases


  • 17-Hydroxysteroid Dehydrogenases
  • HSD17B13 protein, human
  • Transaminases