scholarly journals Genome-wide methylation analysis in monozygotic twins reveals epigenetic factors associated with progression of adolescent idiopathic scoliosis

2021 ◽  
Vol 1 ◽  
pp. 100070
Author(s):  
Wu Zhichong ◽  
Dai Zhicheng ◽  
Xu LeiLei ◽  
Zhu Zezhang ◽  
Qiu Yong
Spine ◽  
2012 ◽  
Vol 37 (15) ◽  
pp. 1297-1302 ◽  
Author(s):  
Baron S. Lonner ◽  
Meredith A. Lazar-Antman ◽  
Paul D. Sponseller ◽  
Suken A. Shah ◽  
Peter O. Newton ◽  
...  

2020 ◽  
Author(s):  
Nadja Makki ◽  
Jingjing Zhao ◽  
Zhaoyang Liu ◽  
Walter L. Eckalbar ◽  
Aki Ushiki ◽  
...  

AbstractAdolescent idiopathic scoliosis (AIS), a sideways curvature of the spine, is the most common pediatric musculoskeletal disorder, affecting ∼3% of the population worldwide. However, its genetic bases and tissues of origin remain largely unknown. Several genome-wide association studies (GWAS) have implicated nucleotide variants in noncoding sequences that control genes with important roles in cartilage, muscle, bone, connective tissue and intervertebral discs (IVDs) as drivers of AIS susceptibility. Here, we set out to define the expression of AIS-associated genes and active regulatory elements by performing RNA-seq and ChIP-seq against H3K27ac in these tissues in mouse and human. Our study highlights genetic pathways involving AIS-associated loci that regulate chondrogenesis, IVD development and connective tissue maintenance and homeostasis. In addition, we identify thousands of putative AIS-associated regulatory elements which may orchestrate tissue-specific expression in musculoskeletal tissues of the spine. Quantification of enhancer activity of several candidate regulatory elements from our study identifies three functional enhancers carrying AIS-associated GWAS SNPs at the ADGRG6 and BNC2 loci. Our findings provide a novel genome-wide catalog of AIS-relevant genes and regulatory elements and aid in the identification of novel targets for AIS causality and treatment.


2018 ◽  
Vol 27 (22) ◽  
pp. 3986-3998 ◽  
Author(s):  
Anas M Khanshour ◽  
Ikuyo Kou ◽  
Yanhui Fan ◽  
Elisabet Einarsdottir ◽  
Nadja Makki ◽  
...  

2011 ◽  
Vol 43 (12) ◽  
pp. 1237-1240 ◽  
Author(s):  
Yohei Takahashi ◽  
Ikuyo Kou ◽  
Atsushi Takahashi ◽  
Todd A Johnson ◽  
Katsuki Kono ◽  
...  

PLoS ONE ◽  
2018 ◽  
Vol 13 (11) ◽  
pp. e0207754 ◽  
Author(s):  
Aldo Córdova-Palomera ◽  
Helena Palma-Gudiel ◽  
Jaume Forés-Martos ◽  
Rafael Tabarés-Seisdedos ◽  
Lourdes Fañanás

2016 ◽  
Vol 18 (6) ◽  
pp. 730-736 ◽  
Author(s):  
Rafael De la Garza Ramos ◽  
C. Rory Goodwin ◽  
Nancy Abu-Bonsrah ◽  
Amit Jain ◽  
Emily K. Miller ◽  
...  

OBJECTIVE The aim of this study was to investigate the incidence of and factors associated with complications following idiopathic scoliosis surgery in adolescents. METHODS The Nationwide Inpatient Sample database was used to identify patients 10–18 years of age who had undergone spinal fusion for adolescent idiopathic scoliosis (AIS) from 2002 to 2011. Twenty-three unique in-hospital postoperative complications, including death, were examined. A series of logistic regressions was used to determine if any demographic, comorbid, or surgical parameter was associated with complication development. Results of multiple logistic regression analyses were reported as odds ratios with 95% confidence intervals. All analyses were performed after the application of discharge weights to produce national estimates. RESULTS A total of 36,335 patients met the study inclusion criteria, 7.6% of whom (95% CI 6.3%–8.9%) developed at least one in-hospital complication. The 3 most common complications were respiratory failure (3.47%), reintubation (1.27%), and implant related (1.14%). Major complications such as death, pancreatitis, disseminated intravascular coagulation, visual loss, spinal cord injury, cardiac arrest, sepsis, nerve root injury, deep vein thrombosis, pulmonary embolism, shock, malignant hyperthermia, myocardial infarction, and iatrogenic stroke each had an incidence ≤ 0.2%. On multiple logistic regression analysis, an increasing age (OR 0.80) was associated with significantly lower odds of complication development; patients who were male (OR 1.80) or who had anemia (OR 2.10), hypertension (OR 2.51), or hypothyroidism (OR 2.27) or underwent revision procedures (OR 5.55) were at a significantly increased risk for complication development. The rates of postoperative complications for posterior, anterior, and combined approaches were 6.7%, 10.0%, and 19.8%, respectively (p < 0.001). Length of fusion (< 8 vs ≥ 8 levels) was not associated with complication development (p = 0.311). CONCLUSIONS Analysis of 36,335 patients who had undergone surgery for AIS revealed that younger patients, male patients, patients with a history of anemia, hypertension, or hypothyroidism, as well as those undergoing revision or anterior or combined approaches may have higher rates of postoperative complications. However, the overall complication rate was low (7.6%), and major complications had a rate ≤ 0.2% for each event. These findings suggest that surgery for AIS remains relatively safe, and future prospective investigations may further help to decrease the postoperative morbidity rate.


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