Gene: PNPLA3

Alternate names for this Gene: ADPN|C22orf20|iPLA(2)epsilon

Gene Summary: The protein encoded by this gene is a triacylglycerol lipase that mediates triacylglycerol hydrolysis in adipocytes. The encoded protein, which appears to be membrane bound, may be involved in the balance of energy usage/storage in adipocytes.

Gene is located in Chromosome: 22

Location in Chromosome : 22q13.31

Description of this Gene: patatin like phospholipase domain containing 3

Type of Gene: protein-coding

rs12483959 in PNPLA3 gene and Alanine aminotransferase measurement PMID 30718733 2019 The Korea Biobank Array: Design and Identification of Coding Variants Associated with Blood Biochemical Traits.

PMID 21909109 2011 Large-scale genome-wide association studies in East Asians identify new genetic loci influencing metabolic traits.

PMID 18940312 2008 Population-based genome-wide association studies reveal six loci influencing plasma levels of liver enzymes.

PMID 31311600 2019 GWAS and enrichment analyses of non-alcoholic fatty liver disease identify new trait-associated genes and pathways across eMERGE Network.

PMID 20139978 2010 Genome-wide association study of hematological and biochemical traits in a Japanese population.

PMID 30589442 2019 Biomarker and Genomic Risk Factors for Liver Function Test Abnormality in Hazardous Drinkers.

PMID 31219225 2019 Genome-Wide Association Study Identifies Loci for Liver Enzyme Concentrations in Mexican Americans: The GUARDIAN Consortium.

PMID 28090653 2017 Genome-Wide Study Links PNPLA3 Variant With Elevated Hepatic Transaminase After Acute Lymphoblastic Leukemia Therapy.

PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

PMID 22001757 2011 Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma.

rs2896019 in PNPLA3 gene and Aspartate aminotransferase measurement PMID 20139978 2010 Genome-wide association study of hematological and biochemical traits in a Japanese population.

PMID 30589442 2019 Biomarker and Genomic Risk Factors for Liver Function Test Abnormality in Hazardous Drinkers.

PMID 31219225 2019 In the PNPLA3 gene, rs4823173 (P = 3.44 × 10<sup>-10</sup> ), rs2896019 (P = 7.29 × 10<sup>-9</sup> ), and rs2281135 (P = 8.73 × 10<sup>-9</sup> ) were significantly associated with AST levels.

PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

rs738409 in PNPLA3 gene and Diabetes Mellitus, Non-Insulin-Dependent PMID 29632382 2018 Refining the accuracy of validated target identification through coding variant fine-mapping in type 2 diabetes.

rs746140741 in PNPLA3 gene and FATTY LIVER DISEASE, NONALCOHOLIC, SUSCEPTIBILITY TO, 1 PMID 27288299 2016 Screening for rare variants in the PNPLA3 gene in obese liver biopsy patients.

PMID 19738004 2009 A nonsynonymous gene variant in the adiponutrin gene is associated with nonalcoholic fatty liver disease severity.

PMID 19224197 2009 A common variant in PNPLA3, which encodes adiponutrin, is associated with liver fat content in humans.

PMID 18820647 2008 Genetic variation in PNPLA3 confers susceptibility to nonalcoholic fatty liver disease.

rs1010022 in PNPLA3 gene and Fatty Liver Disease PMID 23477746 2013 The ERLIN1-CHUK-CWF19L1 gene cluster influences liver fat deposition and hepatic inflammation in the NHLBI Family Heart Study.

rs1977080 in PNPLA3 gene and Finding of Mean Corpuscular Hemoglobin PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs2281135 in PNPLA3 gene and Finding of liver enzyme levels PMID 18940312 2008 Population-based genome-wide association studies reveal six loci influencing plasma levels of liver enzymes.

rs738408 in PNPLA3 gene and Hematocrit procedure PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs738408 in PNPLA3 gene and Hemoglobin measurement PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs2896019 in PNPLA3 gene and Hepatitis B PMID 21750111 2011 A genome-wide association study of chronic hepatitis B identified novel risk locus in a Japanese population.

rs2294915 in PNPLA3 gene and High density lipoprotein measurement PMID 30275531 2018 Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program.

rs2896019 in PNPLA3 gene and Liver Cirrhosis PMID 23535911 2013 Genome-wide scan revealed that polymorphisms in the PNPLA3, SAMM50, and PARVB genes are associated with development and progression of nonalcoholic fatty liver disease in Japan.

rs738409 in PNPLA3 gene and Liver Cirrhosis, Alcoholic PMID 26482880 2015 A genome-wide association study confirms PNPLA3 and identifies TM6SF2 and MBOAT7 as risk loci for alcohol-related cirrhosis.

rs2896019 in PNPLA3 gene and Liver carcinoma PMID 29385134 2018 Risk estimation model for nonalcoholic fatty liver disease in the Japanese using multiple genetic markers.

rs2294433 in PNPLA3 gene and Mean Corpuscular Volume (result) PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

rs2281135 in PNPLA3 gene and Measurement of liver enzyme PMID 18940312 2008 Population-based genome-wide association studies reveal six loci influencing plasma levels of liver enzymes.

rs2294915 in PNPLA3 gene and Non-alcoholic Fatty Liver Disease PMID 31311600 2019 GWAS and enrichment analyses of non-alcoholic fatty liver disease identify new trait-associated genes and pathways across eMERGE Network.

PMID 29385134 2018 Risk estimation model for nonalcoholic fatty liver disease in the Japanese using multiple genetic markers.

PMID 23535911 2013 Genome-wide scan revealed that polymorphisms in the PNPLA3, SAMM50, and PARVB genes are associated with development and progression of nonalcoholic fatty liver disease in Japan.

PMID 22719876 2012 Moreover, a subgroup analysis of NAFLD patients against controls showed a significant association of rs738409 with type4 (p = 1.7 × 10(-16), OR = 2.18, 95%CI: 1.81-2.63) whereas no association was obtained for type1 to type3 (p = 0.41).

PMID 29271184 2018 Genetic Polymorphisms of PNPLA3 and SAMM50 Are Associated with Nonalcoholic Fatty Liver Disease in a Korean Population.

PMID 21423719 2011 Genome-wide association analysis identifies variants associated with nonalcoholic fatty liver disease that have distinct effects on metabolic traits.

rs2896019 in PNPLA3 gene and Nonalcoholic Steatohepatitis PMID 29385134 2018 Risk estimation model for nonalcoholic fatty liver disease in the Japanese using multiple genetic markers.

rs4823173 in PNPLA3 gene and Obesity PMID 25246029 2015 Genome-wide analysis of hepatic lipid content in extreme obesity.

rs1977081 in PNPLA3 gene and Platelet Count measurement PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

rs738409 in PNPLA3 gene and Portal cirrhosis PMID 26482880 2015 A genome-wide association study confirms PNPLA3 and identifies TM6SF2 and MBOAT7 as risk loci for alcohol-related cirrhosis.

rs738408 in PNPLA3 gene and Precursor Cell Lymphoblastic Leukemia Lymphoma PMID 28090653 2017 Genome-Wide Study Links PNPLA3 Variant With Elevated Hepatic Transaminase After Acute Lymphoblastic Leukemia Therapy.

rs3747207 in PNPLA3 gene and RDW - Red blood cell distribution width result PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

PMID 28957414 2017 Red blood cell distribution width: Genetic evidence for aging pathways in 116,666 volunteers.

rs3747207 in PNPLA3 gene and Red cell distribution width determination PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

PMID 28957414 2017 Red blood cell distribution width: Genetic evidence for aging pathways in 116,666 volunteers.

rs12483959 in PNPLA3 gene and Serum Alanine Aminotransferase Measurement PMID 30718733 2019 The Korea Biobank Array: Design and Identification of Coding Variants Associated with Blood Biochemical Traits.

PMID 21909109 2011 Large-scale genome-wide association studies in East Asians identify new genetic loci influencing metabolic traits.

PMID 18940312 2008 Population-based genome-wide association studies reveal six loci influencing plasma levels of liver enzymes.

PMID 31311600 2019 GWAS and enrichment analyses of non-alcoholic fatty liver disease identify new trait-associated genes and pathways across eMERGE Network.

PMID 20139978 2010 Genome-wide association study of hematological and biochemical traits in a Japanese population.

PMID 30589442 2019 Biomarker and Genomic Risk Factors for Liver Function Test Abnormality in Hazardous Drinkers.

PMID 31219225 2019 Genome-Wide Association Study Identifies Loci for Liver Enzyme Concentrations in Mexican Americans: The GUARDIAN Consortium.

PMID 28090653 2017 Genome-Wide Study Links PNPLA3 Variant With Elevated Hepatic Transaminase After Acute Lymphoblastic Leukemia Therapy.

PMID 22001757 2011 Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma.

PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

rs12483959 in PNPLA3 gene and Serum albumin measurement PMID 21909109 2011 Large-scale genome-wide association studies in East Asians identify new genetic loci influencing metabolic traits.

rs2076211 in PNPLA3 gene and Serum total cholesterol measurement PMID 28334899 2017 Association analyses of East Asian individuals and trans-ancestry analyses with European individuals reveal new loci associated with cholesterol and triglyceride levels.

PMID 29507422 2018 A large electronic-health-record-based genome-wide study of serum lipids.

PMID 31217584 2019 Genetic analyses of diverse populations improves discovery for complex traits.

PMID 30275531 2018 Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program.

rs2896019 in PNPLA3 gene and Steatohepatitis PMID 29385134 2018 Risk estimation model for nonalcoholic fatty liver disease in the Japanese using multiple genetic markers.

rs4823178 in PNPLA3 gene and Triglycerides measurement PMID 31560688 2019 Using metabolite profiling to construct and validate a metabolite risk score for predicting future weight gain.

rs12484795 in PNPLA3 gene and Uric acid measurement (procedure) PMID 31578528 2019 Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels.

PMID 30993211 2019 Genome-wide meta-analysis identifies multiple novel loci associated with serum uric acid levels in Japanese individuals.

rs1977080 in PNPLA3 gene and White Blood Cell Count procedure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.