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 (hip). The EFO term hip bone mineral 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: hip bone mineral density

SCORE TYPE:

P-Value

DATE ADDED:

2017-05-02

DATE UPDATED:

2024-04-25

SPECIES:

AUTHORS:

U Styrkarsdottir, G Thorleifsson, SA Gudjonsson, A Sigurdsson, JR Center, SH Lee, TV Nguyen, TC Kwok, JS Lee, SC Ho, J Woo, PC Leung, BJ Kim, T Rafnar, LA Kiemeney, T Ingvarsson, JM Koh, NL Tang, JA Eisman, C Christiansen, G Sigurdsson, U Thorsteinsdottir, K Stefansson

TITLE:

Sequence variants in the PTCH1 gene associate with spine bone mineral density and osteoporotic fractures.

JOURNAL:

Nature communications Jan 2016, Vol 7, pp. 10129

ABSTRACT:

Bone mineral density (BMD) is a measure of osteoporosis and is useful in evaluating the risk of fracture. In a genome-wide association study of BMD among 20,100 Icelanders, with follow-up in 10,091 subjects of European and East-Asian descent, we found a new BMD locus that harbours the PTCH1 gene, represented by rs28377268 (freq. 11.4-22.6%) that associates with reduced spine BMD (P=1.0 × 10(-11), β=-0.09). We also identified a new spine BMD signal in RSPO3, rs577721086 (freq. 6.8%), that associates with increased spine BMD (P=6.6 × 10(-10), β=0.14). Importantly, both variants associate with osteoporotic fractures and affect expression of the PTCH1 and RSPO3 genes that is in line with their influence on BMD and known biological function of these genes. Additional new BMD signals were also found at the AXIN1 and SOST loci and a new lead SNP at the EN1 locus. PUBMED: 26733130
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