Article
Targeted sequencing of genome wide significant loci associated with bone mineral density (BMD) reveals significant novel and rare variants: the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) targeted sequencing study.
Human molecular genetics - 1 Dec 2016
Hsu Yi-Hsiang, Li Guo, Liu Ching-Ti, Brody Jennifer A, Karasik David, Chou Wen-Chi, Demissie Serkalem, Nandakumar Kannabiran, Zhou Yanhua, Cheng Chia-Ho, Gill Richard, Gibbs Richard A, Muzny Donna, Santibanez Jireh, Estrada Karol, Rivadeneira Fernando, Harris Tamara, Gudnason Vilmundur, Uitterlinden Andre, Psaty Bruce M, Robbins John A, Adrienne Cupples L, Kiel Douglas P
Abstract excerpt
Background: Bone mineral density (BMD) is a heritable phenotype that predicts fracture risk. We performed fine-mapping by targeted sequencing at WLS, MEF2C, ARHGAP1/F2 and JAG1 loci prioritized by eQTL and bioinformatic approaches among 56 BMD loci from our previous GWAS meta-analysis. Targeted sequencing was conducted in 1,291 Caucasians from the Framingham Heart Study ( n = 925) and Cardiovascular Health Study...
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