|(C;T)||1.3||increased risk for osteoporosis|
|(T;T)||1.7||increased risk for osteoporosis|
rs3736228(T) is associated with vertebral fractures and reduced bone mineral density (BMD), with an overall odds ratio for fractures of 1.06 per allele (CI: 1.01-1.12; 7802 fractures among 31,199 individuals studied). More specifically, the rs3736228(T) allele was associated with reduced lumbar spine BMD (p = 2.6 x 10-9), and femoral neck BMD (p = 5.0 x 10-6).[PMID 18349089]
news rs3736228 was associated with a 30% increase in the risk of both osteoporosis and osteoporotic fractures. Both increases were significant, at P=0.002 and P=0.008, respectively.
[PMID 18455228] rs3736228 associated with decreased bone mineral density (p=6.3x10(-12) for lumbar spine and p=1.9x10(-4) for femoral neck) and an increased risk of both osteoporotic fractures (odds ratio [OR] 1.3, 95% CI 1.09-1.52, p=0.002) and osteoporosis (OR 1.3, 1.08-1.63, p=0.008).
rs4355801 associated with decreased bone mineral density (p=7.6x10(-10) for lumbar spine and p=3.3x10(-8) for femoral neck) and increased risk of osteoporosis (OR 1.2, 95% CI 1.01-1.42, p=0.038).
The presence of both risk alleles increased the risk of osteoporotic fractures (OR 1.3, 1.08-1.63, p=0.006) and this effect was independent of bone mineral density.
A later study (2009) also found an association between rs3736228 and hip BMD; subjects with rs3736228(T;T) genotypes had 8.4% higher total-hip BMD compared to other genotypes (p = 0.009) at baseline in a study of 249 osteoporotic Caucasian men.[PMID 19148563]
|Condition||Bone mineral density|
|95% CI||NR) SD decreas|
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[PMID 19629617] Replication study of candidate genes/loci associated with osteoporosis based on genome-wide screening.
[PMID 20072603] Genome-wide association study identifies ALDH7A1 as a novel susceptibility gene for osteoporosis.
[PMID 20534768] OPG and RANK polymorphisms are both associated with cortical bone mineral density: findings from a metaanalysis of the Avon longitudinal study of parents and children and gothenburg osteoporosis and obesity determinants cohorts.
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[PMID 21432225] A1330V polymorphism of the low-density lipoprotein receptor-related protein 5 gene and bone mineral density in Japanese male workers.
|Title||Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.|
|Odds Ratio||0.0800 None|
[PMID 23054017] The joint effect of cigarette smoking and polymorphisms on LRP5, LEPR, near MC4R and SH2B1 genes on metabolic syndrome susceptibility in Taiwan
|qualified_impact||Low clinical importance, Uncertain pathogenic|
|summary||In a study of a UK population this variant was associated with a small increased risk of osteoporosis and osteoporotic bone fractures, with each copy of the variant presumed to have an additive effect. A study in Chinese young men failed to find an association with peak bone density.|
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