2009
DOI: 10.1038/ng.488
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Variant in PNPLA3 is associated with alcoholic liver disease

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Cited by 399 publications
(319 citation statements)
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“…The authors elegantly demonstrated an allele-dose effect of rs738409[G] from alcoholics without evidence of liver damage compared to ALD patients with elevated ALT without clinical, biological, or imaging signs of cirrhosis, and ultimately alcoholic cirrhotics [25]. This association was subsequently replicated in several independent cohorts, mostly among individuals of European descent [26,27], and summarized in two metaanalyses [28,29] (Table 1).…”
Section: Alcoholic Liver Diseasementioning
confidence: 95%
“…The authors elegantly demonstrated an allele-dose effect of rs738409[G] from alcoholics without evidence of liver damage compared to ALD patients with elevated ALT without clinical, biological, or imaging signs of cirrhosis, and ultimately alcoholic cirrhotics [25]. This association was subsequently replicated in several independent cohorts, mostly among individuals of European descent [26,27], and summarized in two metaanalyses [28,29] (Table 1).…”
Section: Alcoholic Liver Diseasementioning
confidence: 95%
“…Apart from its not completely understood role in adipose tissue, data relating an adiponutrin polymorphism with increased risk of hepatic steatosis in humans indicate an important role of this protein in lipid metabolism regulation in liver. [13][14][15] It has been recently demonstrated in cultured hepatocytes that wild-type adiponutrin hydrolyzes triacylglycerides, while a mutation disrupts this function, leading to fat accumulation. 16 These information suggest that adiponutrin role in liver could be different to that postulated in adipose tissue.…”
Section: Introductionmentioning
confidence: 99%
“…The PNPLA3-I148M variant is most common in individuals of Hispanic ancestry, the group with the highest prevalence of hepatic steatosis (5,6) and is associated with increased circulating levels of liver enzymes (7)(8)(9)(10), biopsy-proven hepatosteatosis (9), and alcohol-related cirrhosis (11,12).…”
mentioning
confidence: 99%