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Pediatr Gastroenterol Hepatol Nutr. 2021 Sep;24(5):455-469. doi: 10.5223/pghn.2021.24.5.455. Epub 2021 Sep 08.

The PNPLA3 rs738409 Variant but not MBOAT7 rs641738 is a Risk Factor for Nonalcoholic Fatty Liver Disease in Obese U.S. Children of Hispanic Ethnicity.

Pediatric gastroenterology, hepatology & nutrition

Sana Mansoor, Anshu Maheshwari, Matthew Di Guglielmo, Katryn Furuya, Makala Wang, Erin Crowgey, Zarela Molle-Rios, Zhaoping He

Affiliations

  1. Division of Pediatric Gastroenterology, Hepatology, and Nutrition, Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE, USA.
  2. Department of Pediatrics, Sidney Kimmel Medical College Thomas Jefferson University, Philadelphia, PA, USA.
  3. Department of Biomedical Research, Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE, USA.

PMID: 34557398 PMCID: PMC8443857 DOI: 10.5223/pghn.2021.24.5.455

Abstract

PURPOSE: The rs641738 C>T in membrane-bound O-acyltransferase domain-containing protein 7 (MBOAT7) is implicated, along with the rs738409 C>G polymorphism in patatin-like phospholipase domain-containing protein 3 (PNPLA3), in nonalcoholic fatty liver disease (NAFLD). The association of these polymorphisms and NAFLD are investigated in Hispanic children with obesity.

METHODS: Obese children with and without NAFLD were enrolled at a pediatric tertiary care health system and genotyped for MBOAT7 rs641738 C>T and PNPLA3 rs738409 C>G. NAFLD was characterized by the ultrasonographic presence of hepatic steatosis along with persistently elevated liver enzymes. Genetic variants and demographic and biochemical data were analyzed for the effects on NAFLD.

RESULTS: Among 126 enrolled subjects, 84 in the case group had NAFLD and 42 in the control group did not. The two groups had similar demographic distribution. NAFLD was associated with abnormal liver enzymes and elevated triglycerides and cholesterol (

CONCLUSION: In Hispanic children with obesity, PNPLA3 rs738409 C>G polymorphism increased the risk for NAFLD. The role of MBOAT7 rs641738 variant in NAFLD is less evident.

Copyright © 2021 by The Korean Society of Pediatric Gastroenterology, Hepatology and Nutrition.

Keywords: Hispanic Americans; Lipid metabolism; Nonalcoholic fatty liver disease; Pediatric obesity; Polymorphism, genetic

Conflict of interest statement

Conflict of Interest: The authors have no financial conflicts of interest.

References

  1. Ann Hepatol. 2018 Mar 1;17(2):250-255 - PubMed
  2. Gastroenterology. 2007 Dec;133(6):1814-20 - PubMed
  3. J Pediatr Gastroenterol Nutr. 2018 Jul;67(1):69-74 - PubMed
  4. BMC Med Genet. 2010 Dec 22;11:172 - PubMed
  5. Nat Genet. 2015 Dec;47(12):1443-8 - PubMed
  6. Pediatrics. 2006 Oct;118(4):1388-93 - PubMed
  7. Aliment Pharmacol Ther. 2015 Jul;42(1):99-105 - PubMed
  8. Pediatr Res. 2016 Nov;80(5):651-655 - PubMed
  9. Hepatol Commun. 2018 May 04;2(7):807-820 - PubMed
  10. Pediatr Res. 2019 Apr;85(5):671-677 - PubMed
  11. Liver Int. 2018 Jul;38(7):1300-1307 - PubMed
  12. Sci Rep. 2018 Mar 23;8(1):5097 - PubMed
  13. J Lipid Res. 2017 Jan;58(1):247-255 - PubMed
  14. Biomed Rep. 2014 Sep;2(5):633-636 - PubMed
  15. Gastroenterology. 2016 May;150(5):1219-1230.e6 - PubMed
  16. Hepatology. 2005 Jun;41(6):1313-21 - PubMed
  17. Hepatology. 2018 Oct;68(4):1376-1390 - PubMed
  18. Int J Mol Sci. 2018 Mar 19;19(3): - PubMed
  19. J Gastroenterol Hepatol. 2012 May;27(5):951-6 - PubMed
  20. Am J Gastroenterol. 2018 Mar;113(3):376-383 - PubMed
  21. J Pediatr. 2011 May;158(5):740-4 - PubMed
  22. Cell Mol Life Sci. 2018 Sep;75(18):3313-3327 - PubMed
  23. J Clin Gastroenterol. 2018 Apr;52(4):339-346 - PubMed
  24. J Clin Endocrinol Metab. 2006 Dec;91(12):4753-61 - PubMed
  25. J Pediatr. 2017 Nov;190:100-107.e2 - PubMed
  26. Clin Gastroenterol Hepatol. 2013 Sep;11(9):1183-1190.e2 - PubMed
  27. Diabetes Care. 2013 May;36(5):1353-60 - PubMed
  28. World J Gastroenterol. 2014 Jun 21;20(23):7347-55 - PubMed
  29. Int J Mol Sci. 2019 Mar 14;20(6): - PubMed
  30. Nat Genet. 2008 Dec;40(12):1461-5 - PubMed
  31. Dig Dis Sci. 2008 May;53(5):1358-63 - PubMed
  32. Gastroenterology. 2015 Dec;149(7):1784-93 - PubMed
  33. PLoS One. 2015 Oct 29;10(10):e0140908 - PubMed
  34. J Gastroenterol Hepatol. 2018 Jun;33(6):1277-1285 - PubMed
  35. Ann Hepatol. 2017 Oct 16;16(6):909-915 - PubMed
  36. Hepatology. 2010 Oct;52(4):1281-90 - PubMed
  37. PLoS One. 2018 Jan 31;13(1):e0185490 - PubMed

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