rs7946
| Orientation | plus |
| Stabilized | plus |
| Make rs7946(C;C) |
| Make rs7946(C;T) |
| Make rs7946(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 17 |
| Position | 17506246 |
| Gene | PEMT |
| is a | snp |
| is | mentioned by |
| dbSNP | rs7946 |
| dbSNP (classic) | rs7946 |
| ClinGen | rs7946 |
| ebi | rs7946 |
| HLI | rs7946 |
| Exac | rs7946 |
| Gnomad | rs7946 |
| Varsome | rs7946 |
| LitVar | rs7946 |
| Map | rs7946 |
| PheGenI | rs7946 |
| Biobank | rs7946 |
| 1000 genomes | rs7946 |
| hgdp | rs7946 |
| ensembl | rs7946 |
| geneview | rs7946 |
| scholar | rs7946 |
| rs7946 | |
| pharmgkb | rs7946 |
| gwascentral | rs7946 |
| openSNP | rs7946 |
| 23andMe | rs7946 |
| SNPshot | rs7946 |
| SNPdbe | rs7946 |
| MSV3d | rs7946 |
| GWAS Ctlg | rs7946 |
| GMAF | 0.4614 |
| Max Magnitude | 0 |
| ? | (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(T), with the effect being most pronounced for rs7946(T;T) genotypes. [PMID 16051693
]
However, rs7946(T) carriers are in general 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 (10.1096/fj.06-1005ufm) suggests 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.
[PMID 28134761] Genetic Variation in Choline-Metabolizing Enzymes Alters Choline Metabolism in Young Women Consuming Choline Intakes Meeting Current Recommendations
[PMID 21881829] PEMT G523A (V175M) Is Associated with Sporadic Alzheimer's Disease in a Chinese Population
[PMID 16816108] Common genetic polymorphisms affect the human requirement for the nutrient choline.
[PMID 17613168] Gene response elements, genetic polymorphisms and epigenetics influence the human dietary requirement for choline.
[PMID 18230680] Choline metabolism and risk of breast cancer in a population-based study.
[PMID 18789905] Genetic polymorphisms in methyl-group metabolism and epigenetics: lessons from humans and mouse models.
[PMID 19167960] Genetic variants in phosphatidylethanolamine N-methyltransferase and methylenetetrahydrofolate dehydrogenase influence biomarkers of choline metabolism when folate intake is restricted.
[PMID 25240073] Maternal choline concentrations during pregnancy and choline-related genetic variants as risk factors for neural tube defects
[PMID 27488260] Dietary choline and betaine intake, choline-metabolising genetic polymorphisms and breast cancer risk: a case-control study in China.
