{{Rsnum
|rsid=7946
|Gene=PEMT
|Chromosome=17
|position=17506246
|Orientation=plus
|ReferenceAllele=G
|MissenseAllele=A
|GMAF=0.4614
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene_s=PEMT
}}{{ population diversity
| geno1=(C;C)
| geno2=(C;T)
| geno3=(T;T)
| CEU | 7.1 | 37.2 | 55.8
| HCB | 75.9 | 22.6 | 1.5
| JPT | 51.3 | 42.5 | 6.2
| YRI | 41.1 | 43.8 | 15.1
| ASW | 33.3 | 52.6 | 14.0
| CHB | 75.9 | 22.6 | 1.5
| CHD | 70.6 | 25.7 | 3.7
| GIH | 39.6 | 44.6 | 15.8
| LWK | 57.3 | 38.2 | 4.5
| MEX | 13.8 | 51.7 | 34.5
| MKK | 44.9 | 34.0 | 21.2
| TSI | 12.7 | 45.1 | 42.2
| HapMapRevision=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|16051693|OA=1
}}

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
|rsid=7946
|allele=T
|frequency=0.733
|uid=1103645292864
|type=homozygous_SNP
|hugo=PEMT
|ensembl gene=ENSG00000133027
|ensembl transcript=ENST00000343219
|sift=TOLERATED
|disease=Deletion of PEMT may be related to liver cancer.
}}

{{PMID Auto
|PMID=21881829
|Title=PEMT G523A (V175M) Is Associated with Sporadic Alzheimer's Disease in a Chinese Population
}}

{{PMID|16816108|OA=1
}} Common genetic polymorphisms affect the human requirement for the nutrient choline.

{{PMID|17613168|OA=1
}} Gene response elements, genetic polymorphisms and epigenetics influence the human dietary requirement for choline.

{{PMID|18230680|OA=1
}} Choline metabolism and risk of breast cancer in a population-based study.

{{PMID|18789905|OA=1
}} Genetic polymorphisms in methyl-group metabolism and epigenetics: lessons from humans and mouse models.

{{PMID|19167960|OA=1
}} Genetic variants in phosphatidylethanolamine N-methyltransferase and methylenetetrahydrofolate dehydrogenase influence biomarkers of choline metabolism when folate intake is restricted.

{{GET Evidence
|gene=PEMT
|aa_change=Val212Met
|aa_change_short=V212M
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs7946
|overall_frequency_n=6530
|overall_frequency_d=10710
|overall_frequency=0.609711
|n_genomes=34
|n_genomes_annotated=0
|n_haplomes=50
|n_articles=0
|n_articles_annotated=0
|nblosum100=0
|autoscore=0
|webscore=N
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | FTDNA2}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}