2017, Number 6
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Ann Hepatol 2017; 16 (6)
The Expression of PNPLA3 Polymorphism could be the Key for Severe Liver Disease in NAFLD in Hispanic Population
Martínez LA, Larrieta E, Calva JJ, Kershenobich D, Torre A
Language: English
References: 24
Page: 909-915
PDF size: 315.03 Kb.
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.
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