Functional relevance for associations between osteoporosis and genetic variants.
Osteoporosis is characterized by increased bone loss and deterioration of bone microarchitecture, which will lead to reduced bone strength and increased risk of fragility fractures. Previous studies have identified many genetic loci associated with osteoporosis, but functional mechanisms underlying...
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doaj-15bc38a2a85d4aab8dd3a04b41a612322020-11-25T02:47:26ZengPublic Library of Science (PLoS)PLoS ONE1932-62032017-01-01124e017480810.1371/journal.pone.0174808Functional relevance for associations between osteoporosis and genetic variants.Kun LiuLi-Jun TanPeng WangXiang-Ding ChenLi-Hua ZhuQin ZengYuan HuHong-Wen DengOsteoporosis is characterized by increased bone loss and deterioration of bone microarchitecture, which will lead to reduced bone strength and increased risk of fragility fractures. Previous studies have identified many genetic loci associated with osteoporosis, but functional mechanisms underlying the associations have rarely been explored. In order to explore the potential molecular functional mechanisms underlying the associations for osteoporosis, we performed integrative analyses by using the publically available datasets and resources. We searched 128 identified osteoporosis associated SNPs (P<10-6), and 8 SNPs exert cis-regulation effects on 11 eQTL target genes. Among the 8 SNPs, 2 SNPs (RPL31 rs2278729 and LRP5 rs3736228) were confirmed to impact the expression of 3 genes (RPL31, CPT1A and MTL5) that were differentially expressed between human subjects of high BMD group and low BMD group. All of the functional evidence suggested the important functional mechanisms underlying the associations of the 2 SNPs (rs2278729 and rs3736228) and 3 genes (RPL31, CPT1A and MTL5) with osteoporosis. This study may provide novel insights into the functional mechanisms underlying the osteoporosis associated genetic variants, which will help us to comprehend the potential mechanisms underlying the genetic association for osteoporosis.http://europepmc.org/articles/PMC5378394?pdf=render |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Kun Liu Li-Jun Tan Peng Wang Xiang-Ding Chen Li-Hua Zhu Qin Zeng Yuan Hu Hong-Wen Deng |
spellingShingle |
Kun Liu Li-Jun Tan Peng Wang Xiang-Ding Chen Li-Hua Zhu Qin Zeng Yuan Hu Hong-Wen Deng Functional relevance for associations between osteoporosis and genetic variants. PLoS ONE |
author_facet |
Kun Liu Li-Jun Tan Peng Wang Xiang-Ding Chen Li-Hua Zhu Qin Zeng Yuan Hu Hong-Wen Deng |
author_sort |
Kun Liu |
title |
Functional relevance for associations between osteoporosis and genetic variants. |
title_short |
Functional relevance for associations between osteoporosis and genetic variants. |
title_full |
Functional relevance for associations between osteoporosis and genetic variants. |
title_fullStr |
Functional relevance for associations between osteoporosis and genetic variants. |
title_full_unstemmed |
Functional relevance for associations between osteoporosis and genetic variants. |
title_sort |
functional relevance for associations between osteoporosis and genetic variants. |
publisher |
Public Library of Science (PLoS) |
series |
PLoS ONE |
issn |
1932-6203 |
publishDate |
2017-01-01 |
description |
Osteoporosis is characterized by increased bone loss and deterioration of bone microarchitecture, which will lead to reduced bone strength and increased risk of fragility fractures. Previous studies have identified many genetic loci associated with osteoporosis, but functional mechanisms underlying the associations have rarely been explored. In order to explore the potential molecular functional mechanisms underlying the associations for osteoporosis, we performed integrative analyses by using the publically available datasets and resources. We searched 128 identified osteoporosis associated SNPs (P<10-6), and 8 SNPs exert cis-regulation effects on 11 eQTL target genes. Among the 8 SNPs, 2 SNPs (RPL31 rs2278729 and LRP5 rs3736228) were confirmed to impact the expression of 3 genes (RPL31, CPT1A and MTL5) that were differentially expressed between human subjects of high BMD group and low BMD group. All of the functional evidence suggested the important functional mechanisms underlying the associations of the 2 SNPs (rs2278729 and rs3736228) and 3 genes (RPL31, CPT1A and MTL5) with osteoporosis. This study may provide novel insights into the functional mechanisms underlying the osteoporosis associated genetic variants, which will help us to comprehend the potential mechanisms underlying the genetic association for osteoporosis. |
url |
http://europepmc.org/articles/PMC5378394?pdf=render |
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