|
Waist-Hip Ratio
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry.
|
30239722 |
2019 |
|
Waist-Hip Ratio
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
New genetic loci link adipose and insulin biology to body fat distribution.
|
25673412 |
2015 |
|
Triglycerides measurement
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program.
|
30275531 |
2018 |
|
Triglycerides measurement
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Exome-wide association study of plasma lipids in >300,000 individuals.
|
29083408 |
2017 |
|
Triglyceride storage disease with ichthyosis
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
These data demonstrate that allele-specific ablation of estrogen receptor-DNA interaction in the PEMT locus prevents hormone-inducible PEMT expression, conferring risk of CDS in women.
|
21059658 |
2011 |
|
Steatohepatitis
|
0.050 |
Biomarker
|
disease |
BEFREE |
Genotype and allele frequency of PEMT, however, did not show a significant difference between control and fatty liver.
|
19262398 |
2009 |
|
Steatohepatitis
|
0.050 |
Biomarker
|
disease |
BEFREE |
Together this study shows that vitamin E treatment efficiently prevented the progression from simple steatosis to steatohepatitis in mice lacking PEMT.
|
30300671 |
2019 |
|
Steatohepatitis
|
0.050 |
AlteredExpression
|
disease |
BEFREE |
PEMT mRNA expression in liver tissues of NASH patients was significantly lower than those with simple steatosis and we postulated the distinct clinical entity of lean NASH with insufficiency of PEMT activities.
|
26883167 |
2016 |
|
Steatohepatitis
|
0.050 |
AlteredExpression
|
disease |
BEFREE |
PEMT, AHR, and PC levels are elevated in simple steatosis patients, but PC levels are robustly reduced in steatohepatitis-fibrosis patients.
|
29416063 |
2018 |
|
Steatohepatitis
|
0.050 |
GeneticVariation
|
disease |
BEFREE |
DNA samples from 59 humans without fatty liver and from 28 humans with NAFLD were genotyped for a single nucleotide polymorphism in exon 8 of PEMT, which leads to a V175M substitution.
|
16051693 |
2005 |
|
Skin lesion
|
0.010 |
GeneticVariation
|
group |
BEFREE |
In the discovery population, genetic variants in the one-carbon metabolism genes phosphatidylethanolamine N-methyltransferase (rs2278952, P for interaction = .004; rs897453, P for interaction = .05) and dihydrofolate reductase (rs1650697, P for interaction = .02), the inflammation gene interleukin 10 (rs3024496, P for interaction =.04), and the skin cancer genes inositol polyphosphate-5-phosphatase (INPP5A; rs1133400, P for interaction = .03) and xeroderma pigmentosum complementation group C (rs2228000, P for interaction = .01) significantly modified the association between arsenic and skin lesions after adjustments for multiple comparisons.
|
25759212 |
2015 |
|
Schizophrenia
|
0.320 |
Biomarker
|
disease |
PSYGENET |
No association of the rs4646396 SNP in the PEMT locus with schizophrenia in a Chinese case-control sample.
|
19647326 |
2009 |
|
Schizophrenia
|
0.320 |
GeneticVariation
|
disease |
BEFREE |
No association of the rs4646396 SNP in the PEMT locus with schizophrenia in a Chinese case-control sample.
|
19647326 |
2009 |
|
Schizophrenia
|
0.320 |
Biomarker
|
disease |
BEFREE |
The present results suggest that the PEMT gene may contribute to the etiology of schizophrenia.
|
17720317 |
2007 |
|
Schizophrenia
|
0.320 |
Biomarker
|
disease |
PSYGENET |
The present results suggest that the PEMT gene may contribute to the etiology of schizophrenia.
|
17720317 |
2007 |
|
Schizophrenia
|
0.320 |
Biomarker
|
disease |
LHGDN |
The present results suggest that the PEMT gene may contribute to the etiology of schizophrenia.
|
17720317 |
2007 |
|
Obesity
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Gene-by-environment interactions of the CLOCK, PEMT, and GHRELIN loci with average sleep duration in relation to obesity traits using a cohort of 643 New Zealand European children.
|
28899534 |
2017 |
|
Nonalcoholic Steatohepatitis
|
0.320 |
Biomarker
|
disease |
BEFREE |
Insufficiency of phosphatidylethanolamine N-methyltransferase is risk for lean non-alcoholic steatohepatitis.
|
26883167 |
2016 |
|
Nonalcoholic Steatohepatitis
|
0.320 |
Biomarker
|
disease |
CTD_human |
AhR and SHP regulate phosphatidylcholine and S-adenosylmethionine levels in the one-carbon cycle.
|
29416063 |
2018 |
|
Nonalcoholic Steatohepatitis
|
0.320 |
GeneticVariation
|
disease |
BEFREE |
Although genetic variation in the phosphatidylethanolamine N-methyltransferase (PEMT) enzyme synthesizing PC has been associated with disease, the functional mechanism linking PC metabolism to the pathogenesis of non-alcoholic steatohepatitis (NASH) remains unclear.
|
31199045 |
2019 |
|
Non-alcoholic Fatty Liver Disease
|
0.340 |
Biomarker
|
disease |
CTD_human |
AhR and SHP regulate phosphatidylcholine and S-adenosylmethionine levels in the one-carbon cycle.
|
29416063 |
2018 |
|
Non-alcoholic Fatty Liver Disease
|
0.340 |
GeneticVariation
|
disease |
BEFREE |
For the first time we report that a polymorphism of the human PEMT gene (V175M) is associated with diminished activity and may confer susceptibility to NAFLD.
|
16051693 |
2005 |
|
Non-alcoholic Fatty Liver Disease
|
0.340 |
Biomarker
|
disease |
BEFREE |
Vitamin E alleviates non-alcoholic fatty liver disease in phosphatidylethanolamine N-methyltransferase deficient mice.
|
30300671 |
2019 |
|
Non-alcoholic Fatty Liver Disease
|
0.340 |
GeneticVariation
|
disease |
BEFREE |
We investigated a large-scale analysis of the association between microsomal triglyceride transfer protein (MTTP) and phosphatidylethanolamine N-methyltransferase (PEMT) polymorphism in alcoholic and nonalcoholic fatty liver disease.
|
19262398 |
2009 |
|
Non-alcoholic Fatty Liver Disease
|
0.340 |
GeneticVariation
|
disease |
BEFREE |
This study provides evidence of a significant association between the PEMT rs7946 A-allele and a risk of NAFLD, with the effect being more prominent in East-Asians, but not in non-Asians.
|
26636496 |
2016 |