LDLR
| is a | gene |
| is | mentioned by |
| Full name | low density lipoprotein receptor |
| EntrezGene | 3949 |
| PheGenI | 3949 |
| VariationViewer | 3949 |
| ClinVar | LDLR |
| GeneCards | LDLR |
| dbSNP | 3949 |
| Diseases | LDLR |
| SADR | 3949 |
| HugeNav | 3949 |
| wikipedia | LDLR |
| LDLR | |
| gopubmed | LDLR |
| EVS | LDLR |
| HEFalMp | LDLR |
| MyGene2 | LDLR |
| 23andMe | LDLR |
| UniProt | P01130 |
| Ensembl | ENSG00000130164 |
| OMIM | 606945 |
| # SNPs | 1525 |
The LDLR gene encodes the low density lipoprotein receptor, perhaps best known in a genetic sense for its connection to familial hypercholesterolemia (FH). Over 1,400 mutations or other DNA changes have been observed in the LDLR gene, many associated with FH.
As pointed out in [PMID 17380167], "Only one or two LDLR mutations can genuinely be considered 'mild' (i.e., all carriers of the mutation have milder hypercholesterolemia than most patients with FH). For all other patients with FH caused by LDLR defects, environmental or other inherited factors seem to be more important than the type of mutation in determining the phenotype severity. These are often the same factors that predispose to CHD in the general population (i.e., smoking, low HDL cholesterol level, male sex, and increasing age)."
Practically speaking, the most important thing for a carrier of a single pathogenic LDLR mutation to do is to check their cholesterol levels; if they are high, then there's an increased risk of cardiovascular disease, which cardiologists will typically choose to treat proactively.
Note that SNPs in the LDLR gene within SNPedia are in the orientation specified by dbSNP; many publications, though, refer to the opposite orientation. For a list of LDLR-SNPs in SNPedia, click on the "What links here" tab located on the bottom left of this page.
