An Osteoporosis Risk SNP at 1p36.12 Acts as an Allele-Specific Enhancer to Modulate LINC00339 Expression via Long-Range Loop Formation.

doi:10.1016/j.ajhg.2018.03.001

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Article

An Osteoporosis Risk SNP at 1p36.12 Acts as an Allele-Specific Enhancer to Modulate LINC00339 Expression via Long-Range Loop Formation.

American journal of human genetics - 3 May 2018

Chen Xiao-Feng, Zhu Dong-Li, Yang Man, Hu Wei-Xin, Duan Yuan-Yuan, Lu Bing-Jie, Rong Yu, Dong Shan-Shan, Hao Ruo-Han, Chen Jia-Bin, Chen Yi-Xiao, Yao Shi, Thynn Hlaing Nwe, Guo Yan, Yang Tie-Lin

Abstract excerpt

Genome-wide association studies (GWASs) have reproducibly associated variants within intergenic regions of 1p36.12 locus with osteoporosis, but the functional roles underlying these noncoding variants are unknown. Through an integrative functional genomic and epigenomic analyses, we prioritized rs6426749 as a potential causal SNP for osteoporosis at 1p36.12. Dual-luciferase assay and CRISPR/Cas9 experiments...

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PMID: 29706346
DOI: 10.1016/j.ajhg.2018.03.001
PMCID: PMC5986728

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CDC42
CTCF

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