Rs7946

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Orientationplus
Make rs7946(C;C)
Make rs7946(C;T)
Make rs7946(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position17506246
GenePEMT
is asnp
is mentioned by
dbSNPrs7946
Exacrs7946
PheGenIrs7946
nextbiors7946
hapmaprs7946
1000 genomesrs7946
hgdprs7946
ensemblrs7946
gopubmedrs7946
geneviewrs7946
scholarrs7946
googlers7946
pharmgkbrs7946
gwascentralrs7946
openSNPrs7946
23andMers7946
23andMe allrs7946
SNP Nexus

SNPshotrs7946
SNPdbers7946
MSV3drs7946
GMAF0.4614
Max Magnitude
? (C;C) (C;T) (T;T) 28
rs7946, a SNP in the phosphatidylethanolamine N-methyltransferase PEMT gene and also known as +5465G-A, leads to a V175M (valine to methionine at amino acid position 175) substitution in the PEMT protein, and is a loss of function mutation. Caucasians with nonalcoholic fatty liver are more likely to carry the rs7946 (A), with the effect being most pronounced for rs7946(A;A) genotypes. [PMID 16051693OA-icon.png]

However, rs7946(A) carriers are not more likely to have fatty liver, based on a study of many more patients, including ones of Hispanic and African-American descent. [PMID 17012264]

How can this be? One explanation [doi: 10.1096/fj.06-1005ufm] concludes the following:

  • Caucasians have a different distribution of this SNP than do Hispanics and African Americans;
  • Having this SNP may be necessary, but is not sufficient, to cause fatty liver, as many individuals with the SNP have normal liver fat;
  • Probably this SNP does slow the export of fat from liver, but only rs7946 carrying individuals who also take in too many calories too quickly (i.e. overeat) will wind up with fatty livers.


Venter snp
Source plos
Gene PEMT
allele T
frequency 0.733
sift TOLERATED
HuRef 1103645292864
Disease Association Deletion of PEMT may be related to liver cancer.



[PMID 21881829] PEMT G523A (V175M) Is Associated with Sporadic Alzheimer's Disease in a Chinese Population

[PMID 16816108OA-icon.png] Common genetic polymorphisms affect the human requirement for the nutrient choline.

[PMID 17613168OA-icon.png] Gene response elements, genetic polymorphisms and epigenetics influence the human dietary requirement for choline.

[PMID 18230680OA-icon.png] Choline metabolism and risk of breast cancer in a population-based study.

[PMID 18789905OA-icon.png] Genetic polymorphisms in methyl-group metabolism and epigenetics: lessons from humans and mouse models.

[PMID 19167960OA-icon.png] Genetic variants in phosphatidylethanolamine N-methyltransferase and methylenetetrahydrofolate dehydrogenase influence biomarkers of choline metabolism when folate intake is restricted.


GET Evidence
PEMT-V212M
aa_change Val212Met
aa_change_short V212M
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.609711
summary



[PMID 25240073] Maternal choline concentrations during pregnancy and choline-related genetic variants as risk factors for neural tube defects