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:

Y Guo, LS Zhang, TL Yang, Q Tian, DH Xiong, YF Pei, HW Deng

TITLE:

IL21R and PTH may underlie variation of femoral neck bone mineral density as revealed by a genome-wide association study.

JOURNAL:

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research May 2010, Vol 25, pp. 1042-8

ABSTRACT:

Bone mineral density (BMD) measured at the femoral neck (FN) is the most important risk phenotype for osteoporosis and has been used as a reference standard for describing osteoporosis. The specific genes influencing FN BMD remain largely unknown. To identify such genes, we first performed a genome-wide association (GWA) analysis for FN BMD in a discovery sample consisting of 983 unrelated white subjects. We then tested the top significant single-nucleotide polymorphisms (SNPs; 175 SNPs with p < 5 x 10(-4)) for replication in a family-based sample of 2557 white subjects. Combing results from these two samples, we found that two genes, parathyroid hormone (PTH) and interleukin 21 receptor (IL21R), achieved consistent association results in both the discovery and replication samples. The PTH gene SNPs, rs9630182, rs2036417, and rs7125774, achieved p values of 1.10 x 10(-4), 3.24 x 10(-4), and 3.06 x 10(-4), respectively, in the discovery sample; p values of 6.50 x 10(-4), 5.08 x 10(-3), and 5.68 x 10(-3), respectively, in the replication sample; and combined p values of 3.98 x 10(-7), 9.52 x 10(-6), and 1.05 x 10(-5), respectively, in the total sample. The IL21R gene SNPs, rs8057551, rs8061992, and rs7199138, achieved p values of 1.51 x 10(-4), 1.53 x 10(-4), and 3.88 x 10(-4), respectively, in the discovery sample; p values of 2.36 x 10(-3), 6.74 x 10(-3), and 6.41 x 10(-3), respectively, in the replication sample; and combined p values of 2.31 x 10(-6), 8.62 x 10(-6), and 1.41 x 10(-5), respectively, in the total sample. The effect size of each SNP was approximately 0.11 SD estimated in the discovery sample. PTH and IL21R both have potential biologic functions important to bone metabolism. Overall, our findings provide some new clues to the understanding of the genetic architecture of osteoporosis. PUBMED: 19874204
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