Functional characterisation of ADIPOQ variants using individuals recruited by genotype
Functional characterisation of ADIPOQ variants using individuals recruited by genotype
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DOI：
10.1016/j.mce.2016.03.020
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发表时间：
2016-06-15
影响因子：
4.1
通讯作者：
Harries, Lorna W.
中科院分区：
文献类型：
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作者：
Lee, Benjamin P.;Lloyd-Laney, Henry O.;Harries, Lorna W.
ADIPOQ基因内或附近的四个非编码GWAS变异（rs17300539、rs17366653、rs3821799和rss56354395）共同解释了4%的循环脂联素变异。其功能基础尚不清楚。我们分别在rs17366653基因型参与者的脂肪组织样本中测试了这些变异对ADIPOQ转录、剪接和稳定性的影响。携带rs17300539的转录本表达增加17% （p = 0.001）。变异rs17366653与ADIPOQ剪接的破坏相关，导致无功能转录物水平增加7倍（p = 0.002）。携带rs56354395的转录本表达减少59% (p =
Four non-coding GWAS variants in or near the ADIPOQ gene (rs17300539, rs17366653, rs3821799 and rs56354395) together explain 4% of the variation in circulating adiponectin. The functional basis for this is unknown.We tested the effect of these variants on ADIPOQ transcription, splicing and stability respectively in adipose tissue samples from participants recruited by rs17366653 genotype.Transcripts carrying rs17300539 demonstrated a 17% increase in expression (p = 0.001). Variant rs17366653 was associated with disruption of ADIPOQ splicing leading to a 7 fold increase in levels of a non-functional transcript (p = 0.002). Transcripts carrying rs56354395 demonstrated a 59% decrease in expression (p =