rs4988321, LRP5

N. diseases: 4
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Osteoporosis
CUI: C0029456
Disease: Osteoporosis
0.040 GeneticVariation BEFREE In contrast, there was an increased value of OR in heterozygotes for rs4988321, both in patients with osteopenia (OR = 1.47) and in those with osteoporosis (OR = 1.33). 29963786 2019
Osteoporosis
CUI: C0029456
Disease: Osteoporosis
0.040 GeneticVariation BEFREE The less common Val667Met polymorphism showed no association with osteoporosis. 24885293 2014
Osteoporosis
CUI: C0029456
Disease: Osteoporosis
0.040 GeneticVariation BEFREE In this study were determined the allelic and genotypic frequencies of four polymorphic markers (C/T rs3736228, G/A rs4988321, T/C rs627174 and T/C rs901824) in the low-density lipoprotein receptor-related protein 5 gene (LRP5) and their association with osteoporosis in 100 pos-menopausal osteoporotic Mexican women and their controls, using real time-PCR and TaqMan probes. 23242660 2013
Osteoporosis
CUI: C0029456
Disease: Osteoporosis
0.040 GeneticVariation BEFREE Genotypes and haplotypes were based on LRP5 missense substitutions in exons 9 (c.2047G > A, p.V667M) and 18 (c.4037C > T, p.A1330V), and their association with osteoporosis evaluated after adjustment for multiple clinical and environmental variables using logistic regression. 16168727 2005
Osteopenia
CUI: C0029453
Disease: Osteopenia
0.010 GeneticVariation BEFREE In contrast, there was an increased value of OR in heterozygotes for rs4988321, both in patients with osteopenia (OR = 1.47) and in those with osteoporosis (OR = 1.33). 29963786 2019
Rheumatoid Arthritis
CUI: C0003873
Disease: Rheumatoid Arthritis
0.010 GeneticVariation BEFREE Significant associations between LRP5 SNPs (p.A1330V, p.N740N, and p.V667M) and the severity of radiographic damage reinforce the evidence of bone destruction heritability in RA. 30019084 2018
bone destruction
CUI: C0238790
Disease: bone destruction
0.010 GeneticVariation BEFREE Significant associations between LRP5 SNPs (p.A1330V, p.N740N, and p.V667M) and the severity of radiographic damage reinforce the evidence of bone destruction heritability in RA. 30019084 2018