Title: 
Identification of 613 new loci associated with heel bone mineral density and a polygenic risk score for bone 
mineral density, osteoporosis and fracture

PLoS One. 2018; 13(7): e0200785.
PMID: 30048462

Author: Stuart K. Kim 

Abstract:
 
Low bone mineral density (BMD) leads to osteoporosis, and is a risk factor for bone fractures, including 
stress fractures. Using data from UK Biobank, a genome-wide association study identified 1,362 independent 
SNPs that clustered into 899 loci of which 613 are new. These data were used to train a genetic algorithm 
using 22,886 SNPs as predictors and showing a correlation with heel bone mineral density of 0.415. 
Combining this genetic algorithm with height, weight, age and sex resulted in a correlation with heel 
bone mineral density of 0.496. Individuals with low scores (2.2% of total) showed a change in BMD of 
-1.16 T-score units, an increase in risk for osteoporosis of 17.4 fold and an increase in risk for 
fracture of 1.87 fold. Genetic predictors could assist in the identification of individuals at risk 
for osteoporosis or fractures. 

Trait: Bone Mineral Density

Study population: UK Biobank (394,929 individuals).

Column descriptions:

SNP. Single Nucleotide Polymorphism
CHR. Chromosome
BP. Base Pair
GENPOS. Genetic Position
ALLELE1. Effect Allele.
ALLELE0. Other Allele.
A1FREQ. Effect Allele Frequency
INFO. Imputation information
KimBETA. Beta value for association with BMD (T-score units).
KimSE. Standard Error for Beta
P_BOLT_LMM_INF. P-valule for BOLT_LMM_INF (infinitesimal mixed model association statistics).
P_BOLT_LMM. P-value for BOLT_LMM.