Topics

Development and validation of a novel and robust blood small nuclear RNA signature in diagnosing autism spectrum disorder.

08:00 EDT 1st November 2019 | BioPortfolio

Summary of "Development and validation of a novel and robust blood small nuclear RNA signature in diagnosing autism spectrum disorder."

Reliable molecular signatures are needed to improve the early and accurate diagnosis of autism spectrum disorder (ASD), and indicate physicians to provide timely intervention. This study aimed to identify a robust blood small nuclear RNA (snRNA) signature in diagnosing ASD. 186 blood samples in the microarray dataset were randomly divided into the training set (n = 112) and validation set (n = 72). Then, the microarray probe expression profiles were re-annotated into the expression profiles of 1253 snRNAs though probe sequence mapping. In the training set, least absolute shrinkage and selection operator (LASSO) penalized generalized linear model was adopted to identify the 9-snRNA signature (RNU1-16P, RNU6-1031P, RNU6-258P, RNU6-335P, RNU6-485P, RNU6-549P, RNU6-98P, RNU6ATAC26P, and RNVU1-15), and a diagnostic score was calculated for each sample according to the snRNA expression levels and the model coefficients. The score demonstrated a good diagnostic ability for ASD in the training set (area under receiver operating characteristic curve (AUC) = 0.90), validation set (AUC = 0.87), and the overall (AUC = 0.88). Moreover, the blood samples of 23 ASD patients and 23 age- and gender-matched controls were collected as the external validation set, in which the signature also showed a good diagnostic ability for ASD (AUC = 0.88). In subgroup analysis, the signature was robust when considering the confounders of gender, age, and disease subtypes, and displayed a significantly better performance among the female and younger cases (P = .039; P = .002). In comparison with a 55-gene signature deriving from the same dataset, the snRNA signature showed a better diagnostic ability (
AUC:
0.88 vs 0.80, P = .049). In conclusion, this study identified a novel and robust blood snRNA signature in diagnosing ASD, which might help improve the diagnostic accuracy for ASD in clinical practice. Nevertheless, a large-scale prospective study was needed to validate our results.

Affiliation

Journal Details

This article was published in the following journal.

Name: Medicine
ISSN: 1536-5964
Pages: e17858

Links

DeepDyve research library

PubMed Articles [27247 Associated PubMed Articles listed on BioPortfolio]

Machine learning algorithm validation with a limited sample size.

Advances in neuroimaging, genomic, motion tracking, eye-tracking and many other technology-based data collection methods have led to a torrent of high dimensional datasets, which commonly have a small...

Reproducibility of the European Society of Hypertension - International Protocol for validation of blood pressure measuring devices in obese patients.

Electronic devices for blood pressure (BP) measurements need to go through independent clinical validation as recommended by different authorities, both in general and special populations. Reproducibi...

Predicting 5-Year Progression and Survival Outcomes for Early-Stage Non-Small Cell Lung Cancer Treated with Stereotactic Ablative Radiotherapy: Development and Validation of Robust Prognostic Nomograms.

To develop predictive nomograms for overall survival (OS), progression-free survival (PFS), and time-to-progression (TTP) at 5-years in patients with early-stage non-small-cell lung cancer (ES-NSCLC) ...

Inhibiting pathways predicted from a steroid hormone gene signature yields synergistic anti-tumor effects in non-small cell lung cancer.

Mounting evidence supports a role for estrogen signaling in non-small cell lung cancer (NSCLC) progression. We previously reported a 7-gene signature that predicts prognosis in estrogen receptor β po...

Antibody Validation Strategy for Nuclear Receptors.

Antibodies are invaluable biological tools that we can use to detect the presence, location, or alteration of nuclear receptors. However, antibodies frequently cross-react with other proteins and thei...

Clinical Trials [13592 Associated Clinical Trials listed on BioPortfolio]

Validation of a Genetic Signature to Predict the Development of Sarcomas

The aim of the SARI study was to describe biomarkers of predisposition to the development of sarcomas in irradiated territory. This study included 120 patients with sarcoma in irradiated t...

Validation of the Genetic Signature 354849 as a Prognostic Method

This prospective study is focused on the validation of the genetic signature of 27 genes as a predictor of the response to concomitant chemotherapy treatment followed by brachytherapy in p...

Development and Validation of a cfDNA Assay for Predicting Early Non-response to Therapy in Metastatic Cancer

Accrue samples for the further development and clinical validation of a blood-based cell-free DNA (cfDNA) quantitative real-time polymerase chain reaction (qPCR) assay as a potential bioma...

Impact of Nuclear Human Sperm Quality on Embryo Devlopment

To date, none study shows the impact of human spermatozoa nuclear alteration on embryonic development kinetic with morpho-kinetics tools. In this study, Investigator analyze the possible i...

Development and Validation of Multi-nuclear Magnetic Resonance Imaging and Spectroscopy for Whole Body Human Applications

The purpose of this study is to develop and refine the techniques for using magnetic resonance imaging and magnetic resonance spectroscopy to understand the composition and function of the...

Medical and Biotech [MESH] Definitions

Short chains of RNA (100-300 nucleotides long) that are abundant in the nucleus and usually complexed with proteins in snRNPs (RIBONUCLEOPROTEINS, SMALL NUCLEAR). Many function in the processing of messenger RNA precursors. Others, the snoRNAs (RNA, SMALL NUCLEOLAR), are involved with the processing of ribosomal RNA precursors.

A nuclear RNA-protein complex that plays a role in RNA processing. In the nucleoplasm, the U2 snRNP along with other small nuclear ribonucleoproteins (U1, U4-U6, and U5) assemble into SPLICEOSOMES that remove introns from pre-mRNA by splicing. The U2 snRNA forms base pairs with conserved sequence motifs at the branch point, which associates with a heat- and RNAase-sensitive factor in an early step of splicing.

A nuclear RNA-protein complex that plays a role in RNA processing. In the nucleoplasm, the U1 snRNP along with other small nuclear ribonucleoproteins (U2, U4-U6, and U5) assemble into SPLICEOSOMES that remove introns from pre-mRNA by splicing. The U1 snRNA forms base pairs with conserved sequence motifs at the 5'-splice site and recognizes both the 5'- and 3'-splice sites and may have a fundamental role in aligning the two sites for the splicing reaction.

Small, punctate nuclear structures found in close proximity to COILED BODIES. They are enriched with SMN COMPLEX PROTEINS and may play a role in the processing of SMALL NUCLEAR RIBONUCLEOPROTEINS.

Highly conserved nuclear RNA-protein complexes that function in RNA processing in the nucleus, including pre-mRNA splicing and pre-mRNA 3'-end processing in the nucleoplasm, and pre-rRNA processing in the nucleolus (see RIBONUCLEOPROTEINS, SMALL NUCLEOLAR).

Quick Search


DeepDyve research library

Relevant Topics

DNA Microarray
A DNA microarray or biochip is a collection of microscopic DNA spots attached to a solid surface used to measure the expression levels of large numbers of genes simultaneously or to genotype multiple regions of a genome.

Bioinformatics
Bioinformatics is the application of computer software and hardware to the management of biological data to create useful information. Computers are used to gather, store, analyze and integrate biological and genetic information which can then be applied...


Searches Linking to this Article