Sequence variants in the PTCH1 gene associate with spine bone mineral density and osteoporotic fractures.
Cast your vote
You can rate an item by clicking the amount of stars they wish to award to this item.
When enough users have cast their vote on this item, the average rating will also be shown.
Your vote was cast
Thank you for your feedback
Thank you for your feedback
Gudjonsson, Sigurjon A
Center, Jacqueline R
Lee, Seung Hun
Nguyen, Tuan V
Kwok, Timothy C Y
Lee, Jenny S W
Ho, Suzanne C
Kiemeney, Lambertus A
Tang, Nelson L S
Eisman, John A
MetadataShow full item record
CitationNat Commun. 2016, 7:10129
AbstractBone 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.
DescriptionTo access publisher's full text version of this article, please click on the hyperlink in Additional Links field or click on the hyperlink at the top of the page marked Files. This article is open access.
RightsArchived with thanks to Nature communications
- Association of JAG1 with bone mineral density and osteoporotic fractures: a genome-wide association study and follow-up replication studies.
- Authors: Kung AW, Xiao SM, Cherny S, Li GH, Gao Y, Tso G, Lau KS, Luk KD, Liu JM, Cui B, Zhang MJ, Zhang ZL, He JW, Yue H, Xia WB, Luo LM, He SL, Kiel DP, Karasik D, Hsu YH, Cupples LA, Demissie S, Styrkarsdottir U, Halldorsson BV, Sigurdsson G, Thorsteinsdottir U, Stefansson K, Richards JB, Zhai G, Soranzo N, Valdes A, Spector TD, Sham PC
- Issue date: 2010 Feb 12
- Associations of <i>IDUA</i> and <i>PTCH1</i> with Bone Mineral Density, Bone Turnover Markers, and Fractures in Chinese Elderly Patients with Osteoporosis.
- Authors: Wang Q, Tang C, Jia J, Zhang G, Liu Z
- Issue date: 2019
- Genome-wide association study using family-based cohorts identifies the WLS and CCDC170/ESR1 loci as associated with bone mineral density.
- Authors: Mullin BH, Walsh JP, Zheng HF, Brown SJ, Surdulescu GL, Curtis C, Breen G, Dudbridge F, Richards JB, Spector TD, Wilson SG
- Issue date: 2016 Feb 25
- Two Rare Mutations in the COL1A2 Gene Associate With Low Bone Mineral Density and Fractures in Iceland.
- Authors: Styrkarsdottir U, Thorleifsson G, Eiriksdottir B, Gudjonsson SA, Ingvarsson T, Center JR, Nguyen TV, Eisman JA, Christiansen C, Thorsteinsdottir U, Sigurdsson G, Stefansson K
- Issue date: 2016 Jan
- Meta-analysis of gene-based genome-wide association studies of bone mineral density in Chinese and European subjects.
- Authors: Cheung CL, Sham PC, Xiao SM, Bow CH, Kung AW
- Issue date: 2012 Jan