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rs4988321

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 1.3 slightly increased (~1.3x) risk for osteoporosis
(A;G) 1.1
(G;G) 0 normal
ReferenceGRCh38 38.1/141
Chromosome11
Position68406721
GeneLRP5
is asnp
is mentioned by
dbSNPrs4988321
dbSNP (classic)rs4988321
ClinGenrs4988321
ebirs4988321
HLIrs4988321
Exacrs4988321
Gnomadrs4988321
Varsomers4988321
LitVarrs4988321
Maprs4988321
PheGenIrs4988321
Biobankrs4988321
1000 genomesrs4988321
hgdprs4988321
ensemblrs4988321
geneviewrs4988321
scholarrs4988321
googlers4988321
pharmgkbrs4988321
gwascentralrs4988321
openSNPrs4988321
23andMers4988321
23andMe allrs4988321
SNPshotrs4988321
SNPdbers4988321
MSV3drs4988321
GWAS Ctlgrs4988321
GMAF0.02204
Max Magnitude1.3
? (A;A) (A;G) (G;G) 28


rs4988321 is a SNP in the LRP5 gene that is also known as Val667Met or V667M; the more common (G) allele encodes the Val (valine), while the rarer (A) allele encodes the Met (methionine), which is the risk allele.

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 18349089OA-icon.png]

Note that rs3736228, another LRP5 SNP (also known as Ala1330Val), was independently associated with BMD in this same study.[PMID 18349089OA-icon.png]

[PMID 19148563] No association was found between rs4988321 and either hip or spine BMD in a study of 249 Caucasian osteoporotic or osteopenic men.

OMIM603506
DescOSTEOPOROSIS-PSEUDOGLIOMA SYNDROME
Variant0009
Relatedalso

triallelic and on a chip


ClinVar
Risk Rs4988321(A;A) rs4988321(C;C)
Alt Rs4988321(A;A) rs4988321(C;C)
Reference Rs4988321(G;G)
Significance Pathogenic
Disease Osteoporosis with pseudoglioma not provided not specified
Variation info
Gene LRP5
CLNDBN Osteoporosis with pseudoglioma not provided not specified
Reversed 0
HGVS NC_000011.9:g.68174189G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000006654.7, RCV000086953.1, RCV000250939.1,



[PMID 17137849OA-icon.png] 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 17903296OA-icon.png] Genome-wide association with bone mass and geometry in the Framingham Heart Study.

[PMID 18058054OA-icon.png] 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 18588671OA-icon.png] Association between LRP5 polymorphism and bone mineral density: a Bayesian meta-analysis.

[PMID 19629617OA-icon.png] 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 12579474OA-icon.png] 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.


[PMID 23242660] Association of LRP5 haplotypes with osteoporosis in Mexican women.


[PMID 29963786] The importance of the Wnt/β-catenin pathway and LRP5 protein in bone metabolism of postmenopausal women.