|(A;A)||increased risk for osteoporosis|
|(A;G)||increased risk for osteoporosis|
rs4988321(A) is associated with vertebral fractures and reduced bone mineral density (BMD), with an overall odds ratio for vertebral fractures of 1.26 per allele (CI: 1.08-1.47; 2001 fractures among 20,488 individuals studied). More specifically, the rs4988321(A) allele was associated with reduced lumbar spine BMD density (p = 3.3 x 10-8), and femoral neck BMD (p = 3.8 x 10-5).[PMID 18349089]
[PMID 19148563] No association was found between rs4988321 and either hip or spine BMD in a study of 249 Caucasian osteoporotic or osteopenic men.triallelic and on a chip
|Disease||Osteoporosis with pseudoglioma not provided not specified|
|CLNDBN||Osteoporosis with pseudoglioma not provided not specified|
|CLNSRC||OMIM Allelic Variant UniProtKB (protein)|
|CLNACC||RCV000006654.7, RCV000086953.1, RCV000250939.1,|
[PMID 17137849] Genetic variation at the low-density lipoprotein receptor-related protein 5 (LRP5) locus modulates Wnt signaling and the relationship of physical activity with bone mineral density in men.
[PMID 17903296] Genome-wide association with bone mass and geometry in the Framingham Heart Study.
[PMID 18058054] Polymorphisms in the low-density lipoprotein receptor-related protein 5 (LRP5) gene are associated with peak bone mass in non-sedentary men: results from the Odense androgen study.
[PMID 18588671] Association between LRP5 polymorphism and bone mineral density: a Bayesian meta-analysis.
[PMID 19629617] Replication study of candidate genes/loci associated with osteoporosis based on genome-wide screening.
[PMID 15767] The conjugation of benzoic acid in the African bat, Epomops franqueti.
[PMID 12579474] Six novel missense mutations in the LDL receptor-related protein 5 (LRP5) gene in different conditions with an increased bone density.
[PMID 15777745] LRP5 gene polymorphisms predict bone mass and incident fractures in elderly Australian women.
[PMID 15824861] Oropharyngeal skeletal disease accompanying high bone mass and novel LRP5 mutation.
[PMID 15850991] LRP5 mutations in osteoporosis-pseudoglioma syndrome and high-bone-mass disorders.
[PMID 17307038] LRP5 coding polymorphisms influence the variation of peak bone mass in a normal population of French-Canadian women.
|qualified_impact||High clinical importance, Uncertain pathogenic|
|summary||This variant has been implicated in causing osteoporosis-pseudoglioma syndrome in a recessive manner. The gene is strongly implicated in causing the disease, but an insufficient number of controls means this variant's observation lacks statistical significance. The condition manifests in childhood with early onset osteoporosis and eye problems.|
[PMID 23242660] Association of LRP5 haplotypes with osteoporosis in Mexican women.