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rs2297480

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 normal
(A;C) normal
(C;C) reduced response to anti-osteoporosis drugs
ReferenceGRCh38 38.1/141
Chromosome1
Position155309691
GeneFDPS, PKLR
is asnp
is mentioned by
dbSNPrs2297480
ebirs2297480
HLIrs2297480
Exacrs2297480
Varsomers2297480
Maprs2297480
PheGenIrs2297480
hapmaprs2297480
1000 genomesrs2297480
hgdprs2297480
ensemblrs2297480
gopubmedrs2297480
geneviewrs2297480
scholarrs2297480
googlers2297480
pharmgkbrs2297480
gwascentralrs2297480
openSNPrs2297480
23andMers2297480
23andMe allrs2297480
SNP Nexus

SNPshotrs2297480
SNPdbers2297480
MSV3drs2297480
GWAS Ctlgrs2297480
GMAF0.4183
Max Magnitude0
? (A;A) (A;C) (C;C) 28
rs2297480 is a SNP in the FDPS gene, which encodes an enzyme in the mevalonate pathway and therefore might alter the response to amino-bisphonate (drug) treatment of postmenopausal osteoporosis.

A study of 234 Danish postmenopausal women treated for at least 2 years with amino-bisphonates concluded that rs2297480(C;C) homozygotes do not respond as successfully as (A;A) or (A;C) genotypes.[PMID 18687167]



[PMID 17368768OA-icon.png] Farnesyl diphosphate synthase: a novel genotype association with bone mineral density in elderly women.


[PMID 19150398OA-icon.png] Quantitative trait loci, genes, and polymorphisms that regulate bone mineral density in mouse.


[PMID 20191015OA-icon.png] Genetic polymorphism of geranylgeranyl diphosphate synthase (GGSP1) predicts bone density response to bisphosphonate therapy in Korean women.


[PMID 21151198] Common allelic variants of the farnesyl diphosphate synthase gene influence the response of osteoporotic women to bisphosphonates.


[PMID 21196316] Pharmacogenetics of bisphosphonate-associated osteonecrosis of the jaw.


GET Evidence
rs2297480
aa_change
aa_change_short
impact pharmacogenetic
qualified_impact Insufficiently evaluated pharmacogenetic
overall_frequency 0.289062
summary



ClinVar
Risk rs2297480(C;C)
Alt rs2297480(C;C)
Reference rs2297480(A;A)
Significance Drug-response
Disease Bisphosphonates response - Efficacy
Variation info
Gene FDPS PKLR
CLNDBN Bisphosphonates response - Efficacy
Reversed 1
HGVS NC_000001.10:g.155279482T>G
CLNSRC PharmGKB Clinical Annotation PharmGKB
CLNACC RCV000211252.1,