GeneSet Information

Tier I GS268371 • GWAS Catalog Data for bone density in 5,833 European ancestry females, 2,639 European ancestry males, 784 Han Chinese ancestry females, 763 Han Chinese ancestry males, 712 African American females, 409 Hispanic females

DESCRIPTION:

List of positional candidate genes after correcting for multiple testing and controlling the false discovery rate from genome wide association studies (GWAS) retrieved from the NHGRI-EBI Catalog of published genome-wide association studies (http://www.ebi.ac.uk/gwas/). The disease/trait examined in this study, as reported by the authors, was Bone mineral density. The EFO term bone density was annotated to this set after curation by NHGRI-EBI. Intergenic SNPS were mapped to both the upstream and downstream gene. P-value uploaded. This gene set was generated using gwas2gs v. 0.1.8 and the GWAS Catalog v. 1.0.1.

LABEL:

GWAS: bone density

SCORE TYPE:

P-Value

DATE ADDED:

2017-05-02

DATE UPDATED:

2024-04-25

SPECIES:

AUTHORS:

L Zhang, HJ Choi, K Estrada, PJ Leo, J Li, YF Pei, Y Zhang, Y Lin, H Shen, YZ Liu, Y Liu, Y Zhao, JG Zhang, Q Tian, YP Wang, Y Han, S Ran, R Hai, XZ Zhu, S Wu, H Yan, X Liu, TL Yang, Y Guo, F Zhang, YF Guo, Y Chen, X Chen, L Tan, L Zhang, FY Deng, H Deng, F Rivadeneira, EL Duncan, JY Lee, BG Han, NH Cho, GC Nicholson, E McCloskey, R Eastell, RL Prince, JA Eisman, G Jones, IR Reid, PN Sambrook, EM Dennison, P Danoy, LM Yerges-Armstrong, EA Streeten, T Hu, S Xiang, CJ Papasian, MA Brown, CS Shin, AG Uitterlinden, HW Deng

TITLE:

Multistage genome-wide association meta-analyses identified two new loci for bone mineral density.

JOURNAL:

Human molecular genetics Apr 2014, Vol 23, pp. 1923-33

ABSTRACT:

Aiming to identify novel genetic variants and to confirm previously identified genetic variants associated with bone mineral density (BMD), we conducted a three-stage genome-wide association (GWA) meta-analysis in 27 061 study subjects. Stage 1 meta-analyzed seven GWA samples and 11 140 subjects for BMDs at the lumbar spine, hip and femoral neck, followed by a Stage 2 in silico replication of 33 SNPs in 9258 subjects, and by a Stage 3 de novo validation of three SNPs in 6663 subjects. Combining evidence from all the stages, we have identified two novel loci that have not been reported previously at the genome-wide significance (GWS; 5.0 × 10(-8)) level: 14q24.2 (rs227425, P-value 3.98 × 10(-13), SMOC1) in the combined sample of males and females and 21q22.13 (rs170183, P-value 4.15 × 10(-9), CLDN14) in the female-specific sample. The two newly identified SNPs were also significant in the GEnetic Factors for OSteoporosis consortium (GEFOS, n = 32 960) summary results. We have also independently confirmed 13 previously reported loci at the GWS level: 1p36.12 (ZBTB40), 1p31.3 (GPR177), 4p16.3 (FGFRL1), 4q22.1 (MEPE), 5q14.3 (MEF2C), 6q25.1 (C6orf97, ESR1), 7q21.3 (FLJ42280, SHFM1), 7q31.31 (FAM3C, WNT16), 8q24.12 (TNFRSF11B), 11p15.3 (SOX6), 11q13.4 (LRP5), 13q14.11 (AKAP11) and 16q24 (FOXL1). Gene expression analysis in osteogenic cells implied potential functional association of the two candidate genes (SMOC1 and CLDN14) in bone metabolism. Our findings independently confirm previously identified biological pathways underlying bone metabolism and contribute to the discovery of novel pathways, thus providing valuable insights into the intervention and treatment of osteoporosis. PUBMED: 24249740
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bone density (EFO:0003923)

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