NDLI: Functional Characterization of Genetic Variation in the Frizzled 1 (FZD1) Promoter and Association With Bone Phenotypes: More to the LRP5 Story?

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Functional Characterization of Genetic Variation in the Frizzled 1 (FZD1) Promoter and Association With Bone Phenotypes: More to the LRP5 Story?

Content Provider	PubMed Central
Author	Yerges, Laura M. Zhang, Yingze Cauley, Jane A. Kammerer, Candace M. Nestlerode, Cara S. Wheeler, Victor W. Patrick, Alan L. Bunker, Clareann H. Moffett, Susan P. Ferrell, Robert E. Zmuda, Joseph M.
Copyright Year	2009
Abstract	WNT signaling is an important determinant of bone formation. The WNT co-receptor, Frizzled homolog 1 (FZD1), initiates WNT signal transduction. To study the influence of FZD1 genetic variation on measures of bone health, we first sequenced a 6.8-kb region surrounding FZD1 in 48 samples of African ancestry. We genotyped all common polymorphisms and performed association analysis with bone phenotypes in a larger sample. Only 3 of 35 SNPs identified were present in ≥5% of the sample and assayed further in 1084 men of African ancestry. Two of these SNPs were in the FZD1 promoter (rs2232157, rs2232158) and were associated with femoral neck areal BMD (p = 0.041 and 0.009, respectively). The minor alleles of these two SNPs were also associated with larger bone size at the radius (p < 0.05 for both), and rs2232158 was associated with greater strength-strain index, an indicator of bone's ability to withstand torsion. Functional experiments were completed to assess the influence of the rs2232158 promoter polymorphism on transcriptional regulation of FZD1. The minor C allele in rs2232158 creates a binding site for the transcription factor Egr1, has higher Egr1 binding affinity, and has greater FZD1 promoter activity in MG63 and SaOS-2 cells, providing a plausible molecular mechanism for the population associations. This study indicates that a cis-regulatory polymorphism in the FZD1 promoter region may have a functional role in determining bone structural geometry.
Related Links	http://dx.doi.org/10.1359/jbmr.080816
Ending Page	96
Page Count	10
Starting Page	87
File Format	PDF
ISSN	08840431
e-ISSN	15234681
Journal	Journal of Bone and Mineral Research
Issue Number	1
Volume Number	24
Language	English
Publisher	Amer Soc Bone & Mineral Res.
Publisher Date	2009-01-01
Access Restriction	Open
Rights Holder	Amer Soc Bone & Mineral Res.
Subject Keyword	Endocrinology, Diabetes and Metabolism Orthopedics and Sports Medicine Research in Higher Education
Content Type	Text
Resource Type	Article
Subject	Orthopedics and Sports Medicine Endocrinology, Diabetes and Metabolism

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