Varaico: Literature-Extracted Genetic Variants

Gene:PPARA
Variant:p.V227A
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PPARA

NM_005036.6:p.V227A

Associated Papers

PPARɑ variant V227A reduces plasma triglycerides through enhanced lipoprotein lipolysis.

Uchiyama LF et al.

Journal of Lipid Research, 2025

Oligogenic analysis across broad phenotypes of 46,XY differences in sex development associated with NR5A1/SF-1 variants: findings from the international SF1next study.

Kouri C et al.

Ebiomedicine, 2025

40037090 (PubMed )
Supplement: mmc2.pdf

Target gene variations of PPAR isoforms may contribute to MODY heterogeneity: A preliminary comparative study with type 2 diabetes.

Yilmaz-Aydogan H et al.

Diabetes Research and Clinical Practice, 2024

Population-specific putative causal variants shape quantitative traits.

Koyama S et al.

Nature Genetics, 2024

39363016 (PubMed )
Supplement: 41588_2024_1913_MOESM3_ESM.xlsx › ST4_GWAS_Loci_BBJ_NCGG_ToMMo

An association between PPARα-L162V polymorphism and increased plasma LDL cholesterol levels after risperidone treatment.

Nadalin S et al.

Prostaglandins, Leukotrienes, and Essential Fatty Acids, 2024

The Contribution of Genetic Variants of the Peroxisome Proliferator-Activated Receptor-Alpha Gene to High-Altitude Hypoxia Adaptation in Sherpa Highlanders.

Kinota F et al.

High Altitude Medicine & Biology, 2023

Associations between maternal mono-(2-ethylhexyl) phthalate levels, nuclear receptor gene polymorphisms, and fatty acid levels in pregnant Japanese women in the Hokkaido study.

Kobayashi S et al.

Reproductive Toxicology (elmsford, N.y.), 2022

Relationships between maternal perfluoroalkyl substance levels, polymorphisms of receptor genes, and adverse birth outcomes in the Hokkaido birth cohort study, Japan.

Kobayashi S et al.

Reproductive Toxicology (elmsford, N.y.), 2022

Whole-exome sequencing expands the roles of novel mutations of organic anion transporting polypeptide, ATP-binding cassette transporter, and receptor genes in intrahepatic cholestasis of pregnancy.

Liu X et al.

Frontiers in Genetics, 2022

36046230 (PubMed )
Supplement: Table3.XLSX › Sheet1

Associations among perfluorooctanesulfonic/perfluorooctanoic acid levels, nuclear receptor gene polymorphisms, and lipid levels in pregnant women in the Hokkaido study.

Kobayashi S et al.

Scientific Reports, 2021

Decoding variants in drug-metabolizing enzymes and transporters in solid tumor patients by whole-exome sequencing.

Aboul-Soud MAM et al.

Saudi Journal of Biological Sciences, 2021

33424349 (PubMed )
Supplement: mmc1.xlsx › Sheet1

Genetic and epigenetic disease modifiers: non-alcoholic fatty liver disease (NAFLD) and alcoholic liver disease (ALD).

Choudhary NS et al.

Translational Gastroenterology and Hepatology, 2021

Variants of Lipid-Related Genes in Adult Japanese Patients with Severe Hypertriglyceridemia.

Matsunaga A et al.

Journal of Atherosclerosis and Thrombosis, 2020

Impact of PPAR-Alpha Polymorphisms-The Case of Metabolic Disorders and Atherosclerosis.

Ruscica M et al.

International Journal of Molecular Sciences, 2019

Targeted next generation sequencing as a tool for precision medicine.

Gulilat M et al.

Bmc Medical Genomics, 2019

31159795 (PubMed )
Supplement: 12920_2019_527_MOESM1_ESM.xlsx › Table_S6

Genetic polymorphisms of PPAR genes and human cancers: evidence for gene-environment interactions.

Dhaini HR et al.

Journal of Environmental Science and Health. Part C, Environmental Carcinogenesis & Ecotoxicology Reviews, 2019

The genetic backgrounds in nonalcoholic fatty liver disease.

Seko Y et al.

Clinical Journal of Gastroenterology, 2018

Exome chip meta-analysis identifies novel loci and East Asian-specific coding variants that contribute to lipid levels and coronary artery disease.

Lu X et al.

Nature Genetics, 2017

The Association between Pediatric NAFLD and Common Genetic Variants.

Umano GR et al.

Children (basel, Switzerland), 2017

Significance of genetic polymorphisms in patients with nonalcoholic fatty liver disease.

Miyaaki H et al.

Clinical Journal of Gastroenterology, 2017

An association between the PPARα-L162V polymorphism and nicotine dependency among patients with schizophrenia.

Nadalin S et al.

Comprehensive Psychiatry, 2016

Genetic analysis of nonalcoholic fatty liver disease within a Caribbean-Hispanic population.

Edelman D et al.

Molecular Genetics & Genomic Medicine, 2015

Donor PPARα Gene Polymorphisms Influence the Susceptibility to Glucose and Lipid Disorders in Liver Transplant Recipients: A Strobe-Compliant Observational Study.

Ling Q et al.

Medicine, 2015

Association of adiponectin gene polymorphism with nonalcoholic fatty liver disease in Taiwanese patients with type 2 diabetes.

Hsieh CJ et al.

Plos One, 2015

Intake levels of dietary polyunsaturated fatty acids modify the association between the genetic variation in PCSK5 and HDL cholesterol.

Jang HB et al.

Journal of Medical Genetics, 2014

Is PPARα intron 7 G/C polymorphism associated with muscle strength characteristics in nonathletic young men?

Broos S et al.

Scandinavian Journal of Medicine & Science in Sports, 2013

PPAR-α as a key nutritional and environmental sensor for metabolic adaptation.

Contreras AV et al.

Advances in Nutrition (bethesda, Md.), 2013

Genetic predisposition in NAFLD and NASH: impact on severity of liver disease and response to treatment.

Dongiovanni P et al.

Current Pharmaceutical Design, 2013

Peroxisome proliferator-activated receptor genetic polymorphisms and nonalcoholic Fatty liver disease: any role in disease susceptibility?

Dongiovanni P et al.

Ppar Research, 2013

Combined effects of peroxisome proliferator-activated receptor alpha and apolipoprotein E polymorphisms on risk of breast cancer in a Taiwanese population.

Wu CT et al.

Journal of Investigative Medicine : the Official Publication of the American Federation for Clinical Research, 2012

Genetic variants in candidate genes influencing NAFLD progression.

Di Rosa M et al.

Journal of Molecular Medicine (berlin, Germany), 2012

Retinoid X receptor heterodimer variants and cardiovascular risk factors.

Nohara A et al.

Journal of Atherosclerosis and Thrombosis, 2009

Influence of cholesteryl ester transfer protein, peroxisome proliferator-activated receptor alpha, apolipoprotein E, and apolipoprotein A-I polymorphisms on high-density lipoprotein cholesterol, apolipoprotein A-I, lipoprotein A-I, and lipoprotein A-I:A-II concentrations: the Prospective Epidemiological Study of Myocardial Infarction study.

Do HQ et al.

Metabolism: Clinical and Experimental, 2009

Differences in transcriptional activation by the two allelic (L162V Polymorphic) variants of PPARα after Omega-3 fatty acids treatment.

Rudkowska I et al.

Ppar Research, 2009

PPAR-alpha L162V and PGC-1 G482S gene polymorphisms, but not PPAR-gamma P12A, are associated with alcohol consumption in a Spanish Mediterranean population.

Francès F et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2008

A Val227Ala substitution in the peroxisome proliferator activated receptor alpha (PPAR alpha) gene associated with non-alcoholic fatty liver disease and decreased waist circumference and waist-to-hip ratio.

Chen S et al.

Journal of Gastroenterology and Hepatology, 2008

Peroxisome proliferator-activated receptor [alpha] genetic variation interacts with n-6 and long-chain n-3 fatty acid intake to affect total cholesterol and LDL-cholesterol concentrations in the Atherosclerosis Risk in Communities Study.

Volcik KA et al.

The American Journal of Clinical Nutrition, 2008

A natural polymorphism in peroxisome proliferator-activated receptor-alpha hinge region attenuates transcription due to defective release of nuclear receptor corepressor from chromatin.

Liu MH et al.

Molecular Endocrinology (baltimore, Md.), 2008

Single gene contributions: genetic variants of peroxisome proliferator-activated receptor (isoforms alpha, beta/delta and gamma) and mechanisms of dyslipidemias.

Yong EL et al.

Current Opinion in Lipidology, 2008

Differential effects of aging, drinking and exercise on serum cholesterol levels dependent on the PPARA-V227A polymorphism.

Naito H et al.

Journal of Occupational Health, 2007

[The association of Val227Ala polymorphism of the peroxisome proliferator activated receptor alpha (PPAR alpha) gene with non-alcoholic fatty liver disease].

Chen SH et al.

Zhonghua Gan Zang Bing Za Zhi = Zhonghua Ganzangbing Zazhi = Chinese Journal of Hepatology, 2007

The V227A polymorphism at the PPARA locus is associated with serum lipid concentrations and modulates the association between dietary polyunsaturated fatty acid intake and serum high density lipoprotein concentrations in Chinese women.

Chan E et al.

Atherosclerosis, 2006

Association of V227A PPARalpha polymorphism with altered serum biochemistry and alcohol drinking in Japanese men.

Naito H et al.

Pharmacogenetics and Genomics, 2006

Gly395Arg polymorphism of PPARalpha gene was not detected in Japanese population of 729 individuals.

Kamei Y et al.

Journal of Nutritional Science and Vitaminology, 2006

A Val227Ala polymorphism in the peroxisome proliferator activated receptor alpha (PPARalpha) gene is associated with variations in serum lipid levels.

Yamakawa-Kobayashi K et al.

Journal of Medical Genetics, 2002

Mutation analysis of the retinoid X receptor beta, nuclear-related receptor 1, and peroxisome proliferator-activated receptor alpha genes in schizophrenia and alcohol dependence: possible haplotype association of nuclear-related receptor 1 gene to alcohol dependence.

Ishiguro H et al.

American Journal of Medical Genetics, 2002

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."