Recombinant Human 1-acylglycerol-3-phosphate O-acyltransferase PNPLA3 (PNPLA3), partial

1. Intergroup comparisons showed that the severe grade of hepatic steatosis was more frequently observed in GG than in CC carriers (74% vs. 11.3%, p < 0.001, OR 21.8). PNPLA3 CG and GG carriers with CD have a higher susceptibility to hepatic steatosis, but not to metabolic syndrome. Moreover, patients with GG alleles display more severe forms of HS based on ultrasound. PMID: 30189691
2. The unaltered proportion of DAG (FA18:1) in I148M PNPLA3 carriers with fatty liver may explain the normal insulin sensitivity in these subjects. PMID: 30227635
3. PNPLA3 polymorphisms were associated with advanced liver fibrosis in patients with HCV mono-Infection and HCV/HIV Co-Infection. PMID: 30139224
4. In this longitudinal study with liver biopsy to stage liver fibrosis, we affirm there is no influence of the PNPLA3 rs738409 (GG) genotype on the occurrence of hepatocellular carcinoma in Asian chronic hepatitis C patients, including cirrhotic patients. PMID: 29089161
5. The authors results demonstrate that SNP in the PNPLA3 gene is significantly associated with the presence and severity of NAFLD in a Korean populations. PMID: 29271184
6. case-control study confirmed that PNPLA3 rs738409 Single Nucleotide Polymorphism is associated with Alcoholic Liver Disease. PMID: 29474507
7. These data indicate that the liver expression of the PNPLA3 p.148M variant confers a genetic predisposition to liver graft steatosis along with nutritional status and diabetes. PMID: 29396131
8. Findings suggest a significant association between variants in COL13A1, ADIPOQ, SAMM50, and PNPLA3, and risk of NAFLD/elevated transaminase levels in Mexican adults with an admixed ancestry. PMID: 29307798
9. PNPLA3 determines the risk of NASH and significant fibrosis. PMID: 29193269
10. Our study suggested that PNPLA3 loci (rs2294918, rs2294919) were associated with HBV-related HCC in Han Chinese. PMID: 28617615
11. In this Sri Lankan community cohort study, the annual incidence of non-alcoholic fatty liver disease (NAFLD) was 6.2%. Incident NAFLD was associated with general and central obesity, raised triglycerides and diabetes, and showed a tendency of association with PNPLA3 gene polymorphisms. PMID: 28544258
12. Although no single variant reached genome-wide significance, an association signal was observed for PNPLA3 rs738409, a common single nucleotide polymorphism that has been associated with a variety of liver-related pathologies including alcoholic cirrhosis. This preliminary analysis suggests a role for PNPLA3 variation and several gene sets/pathways that may influence risk for alcoholic hepatitis among heavy drinkers. PMID: 28776448
13. rs738409 polymorphism was not associated with premature coronary artery disease in the whole group of participants, however, when patients and controls were divided into those with and without type 2 diabetes mellitus patients, under additive model, the polymorphism was associated with the presence of coronary artery disease only in patients with type 2 diabetes mellitus patients PMID: 27615511
14. These findings suggest that PNPLA3 rs1010023 may predispose chronic hepatitis B patients to hepatic steatosis but protects them from glucose dysregulation by attenuating insulin resistance. PMID: 28695131
15. Its genotype showes an association with NAFLD, NASH, fibrosis, and cirrhosis. PMID: 28975533
16. Individuals misusing alcohol who carry a particular variant of the gene PNPLA3 are more at risk of developing severe alcoholic hepatitis. PMID: 28161471
17. PNPLA3 is the first locus to be reproducibly and strongly associated with steatosis, fibrosis/cirrhosis in various liver diseases with different etiologies and even HCC in fatty liver diseases. PMID: 29364097
18. The associations between PNPLA3 rs738409 GG genotype and steatosis was significant and was associated to advanced fibrosis. PMID: 29258449
19. Two single nucleotide polymorphisms (SNPs), rs430397 in glucose regulated protein 78 kDa (GRP78) and rs738409 in patatin-like phospholipase domain-containing 3 protein (PNPLA3), were shown to be significantly associated with the risk of developing hepatocellular carcinoma (HCC) in a Sicilian population. PMID: 27888630
20. Meta-analysis provided strong and unequivocal evidence for a significant role for rs738409 in PNPLA3 in the progression of Alcohol-related Cirrhosis with effect sizes in the range expected for a relatively frequent single nuclear polymorphism in a complex disease. PMID: 27575312
21. PNPLA3 SNP I148M occurs with high frequency in Mexican population and favors development of NAFLD. PMID: 29055919
22. Overall, we showed that novel variants in PNPLA3 are very rare in our liver biopsy cohort, thereby indicating that their impact on the etiology of nonalcoholic fatty liver disease is probably limited. Nevertheless, for the three rare coding variants that were identified in patients with advanced liver disease, further functional characterization will be essential to verify their potential disease causality. PMID: 27288299
23. PNPLA3 GG genotype was elevated in aggressive disease phenotype of non-alcoholic fatty liver disease. PMID: 28626169
24. PNPLA3 was strongly expressed in the liver and clearly detectable in subcutaneous adipose tissue of obese patients. Weight loss induced by Laparoscopic gastric banding (LAGB) of severely obese patients led to significantly increased adipose, but not hepatic, tissue expression of PNPLA3. Weight loss induced by LAGB restored adipose tissue PNPLA3 expression which is suppressed by tumour necrosis factor alpha. PMID: 27514759
25. Our study suggests that the pathogenic role of PNPLA3(148M) in nonalcoholic fatty liver disease is independent of the gene transcription in humans, which may be attributed to the high endogenous transcription level of PNPLA3 gene in human livers. PMID: 27744419
26. The association between the PNPLA3 variant and bipolar disorder may help guide further work on medication effectiveness, treatment options, prevention approaches, and understanding potential medication side effects among specific subgroups of individuals with the MM genotype. PMID: 27889599
27. The PNPLA3 rs738409 GG genotype is positively associated with hepatic steatosis in Asian patients with chronic hepatitis C. PMID: 28797039
28. 148M isoform accumulates on lipid drplets when expressed in the livers of mice PMID: 28520213
29. The study proposes that polymorphisms in the PNPLA3 gene have highly predictive value in the development of nonalcoholic fatty liver disease and are independently associated with the severity of liver histology in patients with NAFLD. PMID: 28253210
30. PNPLA3 association with adiposity and the risk of the nonalcoholic fatty liver disease PMID: 28436986
31. PNPLA3 gene variant is associated with the risk of developing liver fibrosis and cirrhosis in an Eastern European population. PMID: 28338112
32. PNPLA3 acts as a positive modulator of activated human hepatic stellate cells, affecting cytokines secretion. PMID: 28073161
33. The results show that in obese patients, the presence of the PNPLA3 p.I148M allele might be associated with greater improvement of hepatic steatosis after bariatric surgery in comparison to carriers of PNPLA3 wild-type alleles. The also lost more weight and had reduced liver fat content. PMID: 27576208
34. PNPLA3 rs738409 (C>G) was associated with the risk of both advanced liver fibrosis and steatosis in patients with chronic hepatitis C, especially among Caucasian populations PMID: 26419236
35. we provide evidence to indicate that PNPLA3-mediated retinol release may protect against liver fibrosis by inducing a specific signature of proteins involved in extracellular matrix remodelling PMID: 27742777
36. The percentage of the PNPLA3 rs738409 GG genotype in NAFLD patients was also significantly higher than that in the controls. PMID: 27059980
37. the rs738409 polymorphism in PNPLA3 is associated with liver fibrosis progression in HIV/HCV-coinfected patients PMID: 27973562
38. Lean non-alcoholic fatty liver disease subjects had a higher rate of the mutant PNPLA3 CG/GG variant compared to lean controls. PMID: 27527746
39. The results that in Japanese patients with NAFLD PNPLA3 genotype had some affect on the histological features, including stage of fibrosis. PMID: 26610348
40. This is the first study to report the interaction between the PNPLA3 rs738409 polymorphism and physical activity or sedentary behavior on Non-Alcoholic Fatty Liver Disease, providing new clues on the function of the PNPLA3 gene PMID: 27905898
41. Data show that the alleles of PNPLA3 locus with differential distribution in cohorts with non-alcoholic fatty liver disease, non-alcoholic steatohepatitis (NASH) and pericellular fibrosis. Heterozygosity at this locus is independently associated with higher risk of having NASH and pericellular fibrosis. PMID: 27596100
42. In NAFLD patients, carriage of the PNPLA3G allele, and particularly of the GG genotype, is significantly associated with the risk of cirrhotic evolution PMID: 27150500
43. The hepatic copper content and PNPLA3 mutations are associated with disease activity in NAFLD patients without MetS. Presence of MetS appears to mask the effects of hepatic copper and PNPLA3. PMID: 27908400
44. Regarding rs738409 polymorphism, GG genotype was positive correlated with the presence of non-alcoholic steatohepatitis. PMID: 27128907
45. SNPs rs2896019 and rs3810622 significantly associated with increased risk of nonalcoholic fatty liver disease in Han Chinese population PMID: 27537584
46. The PNPLA3 148 I/M or M/M variants and CD4(+) cell count were the only independent predictors of severe steatosis in patients with hepatitis C virus non-3 genotypes. PMID: 26806136
47. the PNPLA3 rs738409 was determined to be associated with hepatocellular carcinoma development in a cohort of Japanese patients with type 2 diabetes mellitus PMID: 26337813
48. PNPLA3 p.I148M variant represents the most important prosteatotic genetic risk factor. NAFLD carriers of this variant should be followed up carefully, with elastography being ideally suited for this purpose. PMID: 26264356
49. The PNPLA3 p.I148M variant is associated with non-alcoholic fatty liver disease. PMID: 26745555
50. based on data from the HALT-C trial, the PNPLA3 CG/GG SNP at rs738409 is associated with fibrosis progression but not development of Hepatocellular Carcinoma in patients with Hepatitis C Virus Infection PMID: 26305067

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HGNC: 18590

OMIM: 609567

KEGG: hsa:80339

STRING: 9606.ENSP00000216180

UniGene: Hs.654800