Unique sex-based approach identifies transcriptomic biomarkers associated with non-syndromic craniosynostosis.

Gene regulation and systems biology Pub Date : 2012-01-01 Epub Date: 2012-05-16 DOI:10.4137/GRSB.S9693
Brendan D Stamper, Sarah S Park, Richard P Beyer, Theo K Bammler, Michael L Cunningham
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引用次数: 5

Abstract

Background: The premature fusion of one cranial suture, also referred to as non-syndromic craniosynostosis, most commonly involves premature fusion of the sagittal, coronal, or metopic sutures, in that order. Population-based epidemiological studies have found that the birth prevalence of single-suture craniosynostosis is both suture- and sex-dependent.

Methods: Transcriptomic data from 199 individuals with isolated sagittal (n = 100), unilateral coronal (n = 50), and metopic (n = 49) synostosis were compared against a control population (n = 50) to identify transcripts accounting for the different sex-based frequencies observed in this disease.

Results: Differential sex-based gene expression was classified as either gained (divergent) or lost (convergent) in affected individuals to identify transcripts related to disease predilection. Divergent expression was dependent on synostosis sub-type, and was extensive in metopic craniosynostosis specifically. Convergent microarray-based expression was independent of synostosis sub-type, with convergent expression of FBN2, IGF2BP3, PDE1C and TINAGL1 being the most robust across all synostosis sub-types.

Conclusions: Analysis of sex-based gene expression followed by validation by qRT-PCR identified that concurrent upregulation of FBN2 and IGF2BP3, and downregulation of TINAGL1 in craniosynostosis cases were all associated with increased RUNX2 expression and may represent a transcriptomic signature that can be used to characterize a subset of single-suture craniosynostosis cases.

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Abstract Image

独特的基于性别的方法识别与非综合征性颅缝闭合相关的转录组生物标志物。
背景:单侧颅骨缝合线的过早融合,也被称为无综合征性颅缝闭锁,最常见的顺序是矢状、冠状或位缝合线的过早融合。基于人群的流行病学研究发现,单缝合线颅缝闭合的出生患病率与缝合线和性别有关。方法:将199例分离的矢状面(n = 100)、单侧冠状面(n = 50)和异位面(n = 49)关节闭锁患者的转录组学数据与对照人群(n = 50)进行比较,以确定在该疾病中观察到的不同性别频率的转录本。结果:在受影响个体中,基于性别的差异基因表达被分类为获得(发散)或丢失(趋同),以确定与疾病偏好相关的转录本。发散性表达依赖于骨缝闭合亚型,并在异位性颅缝闭合中广泛存在。基于微阵列的趋同表达独立于骨膜融合亚型,FBN2、IGF2BP3、PDE1C和TINAGL1的趋同表达在所有骨膜融合亚型中最为稳健。结论:基于性别的基因表达分析和qRT-PCR验证发现,颅缝闭合病例中FBN2和IGF2BP3的同时上调以及TINAGL1的下调都与RUNX2表达增加有关,并且可能代表一种转录组学特征,可用于表征单缝线颅缝闭合病例的一个亚群。
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