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The Expression of PNPLA3 Polymorphism could be the Key for Severe Liver Disease in NAFLD in Hispanic Population.
Ann Hepatol. 2017 November-December,; 16(6):909-915.AH

Abstract

BACKGROUND

Nonalcoholic fatty liver disease (NAFLD) encompasses: fatty liver (SS), steatohepatitis (NASH) with or without fibrosis and cirrhosis. Patatine-like phosphatas in domain 3 (PNPLA3; adiponutrin; SNP rs738409 C/G, M148I) shows anabolic and catabolic activities on lipid metabolism and significant association to fatty liver content; however, I148M demographics and ethnics, as its role with NAFLD have not been fully elucidated.

MATERIAL AND METHODS

PNPLA3 genotyping from peripheral blood DNA by polymerase chain reaction (PCR) and direct sequencing, 211 patients diagnosed with NAFLD including SS, NASH and fibrosis spectrum.

RESULTS

Eighty nine per cent showed the G risk allele [CC: 23 (10.5%), GC: 73 (34.7%), GG 115 (54.7%)], the allele frequency was 77%, NASH (71%), SS (80%) and fibrosis (73%). GG genotype carriers showed 3.8 times (CI 95%: 3.03 - 4.79) of increased risk of steatohepatitis and 2.3 times more (CI 95%: 1.77 ~ 3.23) risk of having liver fibrosis (CC). PNPLA3 (GC, GG) conditioned higher probability of low levels of HDL cholesterol (p < 0.010), SS even in normal weight (p < 0.007), insulin resistance by HOMA (p < 0.029), NAFLD fibrosis score showed > 0.675 (p < 0.001) and altered serum alanine aminotransferase (p < 0.05).

CONCLUSION

PNPLA3 expression in Hispanics could be decisive in NAFLD pathogenesis, it's highly prevalent and it's a key to condition and determine the spectrum associated, SS, NASH and fibrosis.

Authors+Show Affiliations

Department of Gastroenterology, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Mexico City.Department of Gastroenterology, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Mexico City.Institutional Director, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Mexico City.Department of Gastroenterology, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Mexico City.

Pub Type(s)

Journal Article

Language

eng

PubMed ID

29055919

Citation

Martínez, Leonardo A., et al. "The Expression of PNPLA3 Polymorphism Could Be the Key for Severe Liver Disease in NAFLD in Hispanic Population." Annals of Hepatology, vol. 16, no. 6, 2017, pp. 909-915.
Martínez LA, Larrieta E, Kershenobich D, et al. The Expression of PNPLA3 Polymorphism could be the Key for Severe Liver Disease in NAFLD in Hispanic Population. Ann Hepatol. 2017;16(6):909-915.
Martínez, L. A., Larrieta, E., Kershenobich, D., & Torre, A. (2017). The Expression of PNPLA3 Polymorphism could be the Key for Severe Liver Disease in NAFLD in Hispanic Population. Annals of Hepatology, 16(6), 909-915. https://doi.org/10.5604/01.3001.0010.5282
Martínez LA, et al. The Expression of PNPLA3 Polymorphism Could Be the Key for Severe Liver Disease in NAFLD in Hispanic Population. Ann Hepatol. 2017;16(6):909-915. PubMed PMID: 29055919.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - The Expression of PNPLA3 Polymorphism could be the Key for Severe Liver Disease in NAFLD in Hispanic Population. AU - Martínez,Leonardo A, AU - Larrieta,Elena, AU - Kershenobich,David, AU - Torre,Aldo, PY - 2017/10/23/entrez PY - 2017/10/23/pubmed PY - 2018/1/30/medline KW - Patatine-like phosphatas in domain 3. Hepatic steatosis. NAFLD. Sllele I148M. Mexico. SP - 909 EP - 915 JF - Annals of hepatology JO - Ann Hepatol VL - 16 IS - 6 N2 - BACKGROUND: Nonalcoholic fatty liver disease (NAFLD) encompasses: fatty liver (SS), steatohepatitis (NASH) with or without fibrosis and cirrhosis. Patatine-like phosphatas in domain 3 (PNPLA3; adiponutrin; SNP rs738409 C/G, M148I) shows anabolic and catabolic activities on lipid metabolism and significant association to fatty liver content; however, I148M demographics and ethnics, as its role with NAFLD have not been fully elucidated. MATERIAL AND METHODS: PNPLA3 genotyping from peripheral blood DNA by polymerase chain reaction (PCR) and direct sequencing, 211 patients diagnosed with NAFLD including SS, NASH and fibrosis spectrum. RESULTS: Eighty nine per cent showed the G risk allele [CC: 23 (10.5%), GC: 73 (34.7%), GG 115 (54.7%)], the allele frequency was 77%, NASH (71%), SS (80%) and fibrosis (73%). GG genotype carriers showed 3.8 times (CI 95%: 3.03 - 4.79) of increased risk of steatohepatitis and 2.3 times more (CI 95%: 1.77 ~ 3.23) risk of having liver fibrosis (CC). PNPLA3 (GC, GG) conditioned higher probability of low levels of HDL cholesterol (p < 0.010), SS even in normal weight (p < 0.007), insulin resistance by HOMA (p < 0.029), NAFLD fibrosis score showed > 0.675 (p < 0.001) and altered serum alanine aminotransferase (p < 0.05). CONCLUSION: PNPLA3 expression in Hispanics could be decisive in NAFLD pathogenesis, it's highly prevalent and it's a key to condition and determine the spectrum associated, SS, NASH and fibrosis. SN - 1665-2681 UR - https://www.unboundmedicine.com/medline/citation/29055919/The_Expression_of_PNPLA3_Polymorphism_could_be_the_Key_for_Severe_Liver_Disease_in_NAFLD_in_Hispanic_Population_ L2 - https://linkinghub.elsevier.com/retrieve/pii/01.3001.0010.5282 DB - PRIME DP - Unbound Medicine ER -