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

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

doi:10.5223/pghn.2021.24.5.455

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저자정보: Sana Mansoor (Nemours/Alfred I. duPont Hospital for Children) Anshu Maheshwari (Nemours/Alfred I. duPont Hospital for Children) Matthew Di Guglielmo (Nemours/Alfred I. duPont Hospital for Children) Katryn Furuya (Nemours/Alfred I. duPont Hospital for Children) Makala Wang (Nemours/Alfred I. duPont Hospital for Children) Erin Crowgey (Nemours/Alfred I. duPont Hospital for Children) Zarela Molle-Rios (Nemours/Alfred I. duPont Hospital for Children) Zhaoping He (Nemours/Alfred I. duPont Hospital for Children)

저널정보: 대한소아소화기영양학회 Pediatric Gastroenterology, Hepatology & Nutrition Pediatric Gastroenterology, Hepatology & Nutrition 제24권 제5호

발행연도: 2021.9

수록면: 455 - 469 (15page)

DOI: 10.5223/pghn.2021.24.5.455

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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 patatinlike 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 (p<0.05). Children with NAFLD had higher percentage of PNPLA3 GG genotype at 70.2% versus 31.0% in non- NAFLD, and lower MBOAT7 TT genotype at 4.8% versus 16.7% in non-NAFLD (p<0.05). PNPLA3 rs738409 C>G had an additive effect in NAFLD; however, MBOAT7 rs641738 C>T had no effects alone or synergistically with PNPLA3 polymorphism. NAFLD risk increased 3.7-fold in subjects carrying PNPLA3 GG genotype and decreased in MBOAT7 TT genotype. 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.

#Polymorphism #genetic #Nonalcoholic fatty liver disease #Lipid metabolism #Pediatric obesity #Hispanic Americans

참고문헌 (37)

참고문헌 신청

Schwimmer JB / 2006 / Prevalence of fatty liver in children and adolescents / Pediatrics 118:1388~1393

Doycheva I / 2018 / Nonalcoholic steatohepatitis is the most rapidly increasing indication for liver transplantation in young adults in the United States / J Clin Gastroenterol 52:339~346

Anderson EL / 2015 / The prevalence of non-alcoholic fatty liver disease in children and adolescents: a systematic review and meta-analysis / PLoS One 10:e0140908

Marzuillo P / 2014 / Pediatric fatty liver disease : role of ethnicity and genetics / World J Gastroenterol 20:7347~7355

Fraser A / 2007 / Prevalence of elevated alanine aminotransferase among US adolescents and associated factors : NHANES 1999-2004 / Gastroenterology 133:1814~1820

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